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Retina International		Scientific Newsletter
Contact the Editor	DATABASES Mutation Databases Human Homologue of the Mouse Pink-eyed Dilution Gene (OCA2)	Recent update from: 16.05.2010 This site is maintained and edited by Dr. rer. medic. Markus Preising, Dipl.Biol. Laboratory of Molecular Ophthalmology Department of Opthalmology Justus-Liebig-University, Giessen, Germany Head: Prof. Dr. med. Birgit Lorenz This site includes links which are off influence of Retina International and do not neccessarily reflect the opinion of Retina International. Therefore, we refrain from any responsibility for these external links.
Mutation Map NCBI GenBank: 4948 - Gen Map (Built: GRCH37): 28000020-28344457	The sequence data are adjusted to a sequence given in a WORD file which can be downloaded here. Nucleotides are counted from the first nucleotide of the starting Methionine codon.

Phenotype	Mutation	Basechange	Codon (Nucleotide)	Exon	Restriction site	HGMD / dbSNP	OMIM	Remarks	Reference
OCA2	Arg 10 Trp	CGG>TGG	010 (c.0028)	01				Compound: A481T Patients: Japanese	(34)
Polymorphism	Ala 16 Ala	GCG>GCA	016 (c.0048)	01					(34)
SNP	Gln 21 Gln	CAG>CAA	021 (c.0063)	02		rs61742223		Patients:	dbSNP
SNP	Gln 21 His	CAG>CAC	021 (c.0063)	02		rs61742223		Patients:	dbSNP
OCA2	Gly 27 Arg	GGA>AGA	027 (c.0079)	01		HGMD listed rs61738394		Typical Homozygous Compound: single S736L Patients: Israelites	(33) (7) (22) (28)
SNP	Arg 37 Arg	AGG>AGA	037 (c.0111)	02		rs41309258		Patients:	dbSNP
OCA2	c.157delA	CCC AGG GGG>CCC _GG GGG	053 (c.0157)	01				Patients: Danish	(8)
OCA2	c.158delG	AGG GGG GCT>A_G GGG GCT	053 (c.0158)	01		HGMD listed		Compound: V833del	(24)
OCA2	c.168delC	GCT GCC GGG>GCT GC_ GGG	056 (c.0168)	02				Compound: R243C	(36)
OCA2	Trp 61 ter	TGG>TAG	061 (c.0182)	01				Compound: IVS15-19a>g Patients: Netherlands	(27)
OCA2	Ser 86 Arg	AGC>AGG	086 (c.0258)	03		HGMD listed		Compound: single Patients: 172	(21)
OCA2	Glu 96 Ala	GAA>GCA	096 (c.0287)	03				homozygous Patients: Danish	(8)
Polymorphism	IVS3+42g>t	gagca>gatca	109 (c.0326)	IVS03				Patients: Caucasian, African American	(21)
OCA2	IVS3-n_IVS20+n	gross deletion	109 (c.0327)	IVS3				Homozygous Compound: A334V Patients: Spain Poland	(27)
OCA2	Cys 112 Phe	TGC>TTC	112 (c.0335)	04		HGMD listed		Compound: single Patients: 530	(21)
SNP	Thr 122 Ile	ACT>ATT	122 (c.0365)	04		rs34385677		Patients:	dbSNP
OCA2	Arg 136 ter	CGA>TGA	136 (c.0406)	04				Compound: single	(36)
SNP	Arg 136 Gln	CGA>CAA	136 (c.0407)	04		rs35764631		Patients:	dbSNP
OCA2	Lys 155 Asn	AAG>AAT	155 (c.0465)	04				Compound: A776D	(36)
OCA2	c.482delG	AGC CCG>A_C CCG	161 (c.0482)	04				Typical Compound: single	(33) (8)
Polymorphism	IVS4-53t>a	gtctg>gtcag	172 (c.0516)	IVS04				Patients: Caucasian	(21)
Polymorphism	IVS5-39t>c	catac>cacac	192 (c.0574)	IVS05					(14)
OCA2	IVS5-19a>g	caacg>cagcg	192 (c.0574)	IVS05		HGMD listed		Compound: IVS3-n_IVS20+n R419Q Patients: Tanzanian Spain	(32) (15) (25)
Polymorphism	IVS5-18c>t	aacgt>aatgt	192 (c.0574)	IVS05					(18)
Polymorphism	IVS5-53c>g	tacct>tagct	192 (c.0574)	IVS05					(5)
OCA2	Pro 198 Leu	CCG>TCG	198 (c.0592)	06				Homozygous Compound: Single Patients: Japanese	(34) (36)
OCA2	Trp 204 ter	TGG>TGA	204 (c.0612)	06				Patients: Northern Europe	(22)
OCA2	c.615del18bp	CAG CTG TTG GCC TTA TCA CCG>CA_ ___ ___ ___ ___ ___ __G	205 (c.0615)	06		HGMD listed			(17) (15)
OCA2	Pro 211 Leu	CCG>TCG	211 (c.0631)	06				Compound: V443I IVS24-1g>c Patients: Japanese	(34) (8)
OCA2	2.7 kb del	2.7 kb del	216 (c.0647)	IVS06		HGMD listed		Homozygous Heterozygous Compound: single G485V P743R Patients: African family presenting OCA2 and OCA3 France Cameroon Spain	(6) (24) (20) (2) (29) (27)
SNP	Pro 241 Arg	CCG>CGG	241 (c.0722)	07		rs2305253		Patients:	(5)
OCA2	Arg 243 Cys	CGT>TGT	243 (c.0727)	07				Compound: c.168delC single	(36)
OCA2	His 249 Asp	CAC>CAG	249 (c.0747)	07				Compound: 2.7 kb del Patients: Cameroon	(27)
Polymorphism	Asp 257 Ala	GAT>GCT	257 (c.0770)	07		rs1050968		Patients: Caucasian African American Asian German	(21) (25)
SNP	Arg 266 Trp	CGG>TGG	266 (c.0796)	07		rs33929465		Patients:	(31)
Polymorphism	IVS7+23a>t	gaaag>gatag	269 (c.0807)	IVS07					(18)
Polymorphism	IVS7+25g>c	gaaag>gaaac	269 (c.0807)	IVS07				Patients: Caucasian, African American	(21)
Polymorphism	IVS7-3c>g	tacag>tagag	270 (c.0808)	IVS07					(3)
OCA2	c.819invCTGG	AAC TGG ACG>AAG GTC ACG	273 (c.0819)	08				Compound: T450M Patients: Africa	(27) (4)
OCA2	Asn 273 Lys	AAC>AAG	273 (c.0819)	08				Compound: W274V	(17) (15) (7) (25)
OCA2	Trp 274 Val	TGG>GTC	274 (c.0822)	08				Compound: N273K	(17) (15) (7) (25)
OCA2	c.860del24bp	TCA GTG ATG AGC AGG ACC TTT GAG GTA CTG ACC>TCA G__ ___ ___ ___ ___ ___ ___ ___ _TG ACC	287 (c.0860)	08				Compound: c.2351del26bp	(36)
OCA2 / OA	Arg 290 Gly	AGG>GGG	290 (c.0868)	08	AciI+	HGMD listed		Homozygous Compound: V443I	(24) (15) (25)
Polymorphism	IVS8-53g>t	gaggt>gatgt	297 (c.0891)	IVS8					(22)
OCA2	c.897insG	ACG GTG>ACGGGTG	300 (c.0897)	10				Compound: S732L Patients: Turkey	(27)
Polymorphism / OCA / OA	Arg 305 Trp	CGG>TGG	305 (c.0913)	09	MspI-	rs1800401		Homozygous = OCA Compound: [V443I, A765T] = OCA V443I = OA / OCA N489D = OCA R419Q = OCA W679C = OCA	(24) (18) (11) (26) (14) (2) (25) (31)
Polymorphism	Leu 308 Leu	CTG>TTG	308 (c.0922)	09		rs1800402		Patients: Caucasian	(21)
OA	Pro 315 Ser	CCT>TCT	315 (c.0943)	09				Compound: single	(25)
OCA2	Gln 321 Pro	CAG>CCG	321 (c.0962)	09				Compound: single	(36)
Polymorphism	Gln 321 Gln	CAG>CAA	321 (c.0963)	09					(14)
OCA2	c.980insT	AGT GTA GAA >AGT GTT AGA A	325 (c.0980)	09				Compound: G782R	(36)
OCA2	Ala 334 Val	GCG>GTG	334 (c.1001)	09		HGMD listed rs34010619		Compound: IVS3-n_IVS20+n Patients: Spain	(14) (27)
Polymorphism	Ala 336 Ala	GCC>GTC	336 (c.1007)	09					(14)
OCA2	Tyr 342 Cys	TAC>TGC	342 (c.1025)	09				Compound: single Patients: Danish	(8)
Polymorphism	Tyr 342 Tyr	TAC>TAT	342 (c.1026)	09		rs1800403			(18) (14)
OCA2	c.1045delAT	ccag __C>ccag ATC	349 (c.1045)	10				Patients: Caucasian	(22)
OCA2	IVS9-2a>g	tccag ATC>tccgg ATC	349 (c.1045)	IVS09				Homozygous Patients: Indian	(31)
OCA2	IVS9-1363del6592bp	Deletion of Exon 10 - 20	349 (c.1045)	IVS09				Patients: Japanese	(37)
OCA2	c.1047del7bp	ATC GTG CAC AGA>AT_ ___ ___ AGA	349 (c.1047)	10		HGMD listed		Compound: Del exon 7 Patients: 733	(21)
OCA2	Val 350 Met	GTG>ATG	350 (c.1048)	10		HGMD listed			(14)
Polymorphism	Ala 355 Ala	GCG>GCA	355 (c.1065)	10		rs1800404			(24) (18) (14) (31)
Polymorphism	Ser 360 Ser	TCC>TCT	360 (c.1080)	10					(22)
OCA2	Leu 361 Val	CTT>GTT	361 (c.1081)	10				Compound: single Patients: German	(25)
SNP	Ala 368 Gly	GCT>GGT	368 (c.1103)	10		rs61745150		Patients:	dbSNP
SNP	Ala 368 Asp	GCT>GAT	368 (c.1103)	10		rs61745150		Patients:	dbSNP
OCA2	Ala 368 Val	GCT>GTT	368 (c.1103)	10		HGMD listed		Homozygous Patients: 722	(21)
OCA2	Ile 370 Thr	ATT>ACT	370 (c.1109)	10		HGMD listed rs34731820			(14)
OCA / Polymorphism	Gly 371 Gly	GGC>GGG	371 (c.1113)	10		rs1800405		Homozygous Compound: R419Q = OCA in cis G775S	(18) (25)
OCA2	IVS10+6t>c	agttg>agctg	372 (c.1116)	IVS10	HpnI+	HGMD listed rs34010619		Compound: V443I Patients: France	(25) (27)
Polymorphism	Leu 376 Leu	CTG>CTT	376 (c.1128)	11		rs1800406		Patients: Caucasian, African American, Asian	(21)
SNP	Val 380 Met	GTG>ATG	380 (c.1138)	11		rs41529845		Patients:	(5)
OCA2	Phe 385 Ile	TTT>ATT	385 (c.1153)	11		HGMD listed			(17)
Polymorphism	Thr 387 Met	ACG>ATG	387 (c.1160)	11				Patients: Japanese	(34)
Polymorphism	IVS11-4a>g	ccata>ccgta	393 (c.1183)	IVS11		rs10852218		Patients: Indian	(24) (18) (14) (30) (12) (31)
OCA2	Met 394 Ile	ATG>ATA	394 (c.1182)	11				Compound: single A481T Patients: Japanese	(34) (13)
Polymorphism	IVS11+19g>a	ccgtg>ccatg	394 (c.1182)	IVS11					(34) (14)
OCA2	Met 395 Leu	ATG>CTG	395 (c.1183)	12		HGMD listed		Splice defect?	(17)
Unclassified	Glu 403 Gly	GAA>GGA	403 (c.1208)	12				Patients: Indian	(31)
OCA2	Leu 404 Met	ACG>ATG	404 (c.1211)	12				Compound: single	(23) (8)
OCA2	IVS12+5g>a	AAG gtagg tat>AAG gtaga tat	413 (c.1239)	IVS12				Patients: African-American West Indian Puerto Rican	(15)
OCA2	Tyr 415 His	TAC>CAC	415 (c.1243)	13				homozygous Patients: Danish	(8)
OCA2	Arg 419 Trp	CGG>TGG	419 (c.1255)	13	MspI-, SmaI-	HGMD listed		Typical homozygous Compound: I473S V443I = OCA / OA c.1113C>T IVS5-19a>g = OCA I491T = OCA N741K = OA I722T = OA M816K = OA c.2502delG = OA	(33) (25)
Polymorphism	Arg 419 Gln	CGG>CAG	419 (c.1256)	13	MspI-, SmaI-	rs1800407			(24) (5) (18) (26) (11)
OCA2	c.1273delATG	GCC ATG ATC>GCC ___ ATC	425 (c.1273)	13		HGMD listed			(17)
Polymorphism	Leu 440 Phe	TTG>TTC	440 (c.1320)	13		rs1800408			(18) (11)
OCA2 / OA	Val 443 Ile	GTC>ATC	443 (c.1327)	13	PsyI-	HGMD listed rs28934272		Homozygous = OCA Compound: OCA IVS16+2T>C G775R IVS10+6t>c R419Q OA N489D P211L [R419Q, N741K] in cis G765T in cis M816K C793F R419Q R305W R290G c.2502delG	(19) (24) (17) (15) (16) (22) (9) (8)
OA	Met 446 Val	ATG>GTG	446 (c.1336)	13		HGMD listed		Typical Compound: single	(33)
OCA2	Thr 450 Lys	ACG>AAG	450 (c.1349)	13				Compound: L727P	(36)
OCA2	Thr 450 Met	ACG>ATG	450 (c.1349)	13	HpnI+	HGMD listed rs34010619		Compound: c.819invCTGG Patients: Africa	(27)
OCA2	Arg 455 Gly	AGG>GGG	455 (c.1363)	13				Compound: C430X single	(36)
Polymorphism	IVS13+4c>a	gtacg>gtaag	455 (c.1364)	IVS13					(18) (14)
Polymorphism	IVS13+180c>t	tttgt>ttcgt	455 (c.1364)	IVS13		rs1800401			(11)
Polymorphism	IVS13+26a>g	agttg>ggttg	455 (c.1364)	IVS13		rs1800410		Patients: Indian	(18) (14) (2) (31)
Polymorphism	IVS13+25a>g	gggag>ggggg	455 (c.1364)	IVS13					(11)
Polymorphism	IVS13+122a>g	aaaag>aagag	455 (c.1364)	IVS13		rs1800401			(11) (2)
Polymorphism	IVS13-15t>c	cttcc>cctcc	455 (c.1365)	IVS13				Not involved in variations of skin pigmentation Patients: Tibetian	(24) (1) (18) (14) (13) (11)
Polymorphism	IVS13-11a>t	ccatt>ccttt	455 (c.1365)	IVS13				Patients: Caucasian	(21) (14)
Polymorphism	Glu 458 Glu	GAG>GAA	458 (c.1374)	14					(18)
OCA2	Ile 473 Ser	ATC>AGC	473 (c.1418)	14		HGMD listed		Typical Compound: R419W	(19) (33)
OCA2	Asn 476 Asp	AAC>GAC	476 (c.1426)	14				Compound Y827H Patients: Chinese	(9)
OA	Asn 476 Ser	AAC>AGC	476 (c.1427)	14				Homozygous Compound: C793F Patients: German	(25)
OCA2	Ala 481 Thr	GCC>ACC	481 (c.1441)	14		HGMD listed		Compound: single IVS15+1g>a R10W M394I c.2106delGinsTTC Patients: France Germany	(19) (34) (12) (33) (35) (27) (8) (13) Preising 2010
OCA2	Gly 485 Val	GGG>GTG	485 (c.1454)	14				Compound: N489D c.647insC Patients: France Denmark	(27) (8)
OCA2, OA	Asn 489 Asp	AAT>GAT	489 (c.1465)	14	Hpy188I+	HGMD listed		Severe Homozygous Compound: single L727P C626R V443I R305W = OCA V443I = OA c.2326delG W679C	(33) (15) (16) (8) (25)
OA	Ile 491 Thr	ATT>ACT	491 (c.1472)	14				Compound: R419Q Same allele: c.2502delA Patients: German	(25)
Polymorphism	IVS14+5g>a	gtacg>gtaca	501 (c.1503)	IVS14					(14) (22)
OCA2	IVS14-2a>g	ccagg>ccggg	502 (c.1504)	IVS14		HGMD listed			(14)
Polymorphism	Cys 517 Cys	TGC>TGT	517 (c.1551)	15		rs1800411			(18) (14) (24) (34) (31)
OCA2	c.1555delG	CTT GTT>CTT_TT	519 (c.1555)	15		HGMD listed		Patients: Mexican	(22)
OCA2	Val 519 Ala	GTT>GCT	519 (c.1556)	15		rs41446944		Compound: single Patients: Japanese Danish	(5) (15) (8)
SNP	Ile 544 Thr	ATT>ACT	544 (c.1631)	15		rs34141095		Patients:	dbSNP
OCA2	IVS15+1g>a	GTT G gtgag>GTT G atgag	546 (c.1636)	IVS15				Compound: A481T Patients: Northern Europe	(22) (34)
Polymorphism	IVS15+78c>t	attag>atcag	546 (c.1636)	IVS16					(5)
OCA2	His 549 Gln	CAC>CAA	549 (c.1647)	16		HGMD listed			(23)
OCA2	Arg 555 Cys	CGC>TGC	555 (c.1663)	16				Compound: single	(36)
OCA2	Ala 558 Pro	GCT>CCT	558 (c.1672)	16				Homozygous Patients: France	(27)
SNP	Arg 560 His	CGC>CAC	560 (c.1679)	16		rs35110389		Patients:	dbSNP
SNP	Leu 582 Val	CTG>GTG	582 (c.1744)	16		rs61751032		Patients:	dbSNP
SNP	Leu 582 Met	CTG>ATG	582 (c.1744)	16		rs61751032		Patients:	dbSNP
Polymorphism	His 584 His	ccatg>ccgtg	584 (c.1752)	16				Patients: Indian	(31)
OCA2	c.1757delT	caacg>cagcg	586 (c.1757)	16				Patients: Northern European	(16)
Polymorphism	His 591 His	CAC>CAT	591 (c.1773)	16		rs1800412		Patients: Caucasian, African American	(21)
OCA2	Thr 592 Ile	ACC>ATC	592 (c.1775)	16		HGMD listed rs1800413		Compound: single Patients: 688	(21)
Polymorphism	IVS16+71g>a	gcgac>gcaac	595 (c.1784)	IVS16					(22)
OCA2	IVS16+2t>c	AGgta>Aggca	595 (c.1784)	IVS16		HGMD listed		Compound: V443I	(24)
Polymorphism	IVS16+93a>g	acgtg>acatg	595 (c.1784)	IVS16					(22)
Polymorphism	IVS16-49c>a	accgc>aacgc	595 (c.1785)	IVS16					(14)
Polymorphism	IVS16-47a>g	accgc>accac	595 (c.1785)	IVS16					(18) (14) (27)
OCA2	c.1835delA	CAA AAA AAG>C_A AAA AAG	612 (c.1835)	17		HGMD listed			(14) (25)
OCA1	Lys 614 Glu	AAG>GAG	614 (c.1840)	17	MnlI-	HGMD listed		Compond: W679C	(24) (25)
OCA2	Lys 614 Asn	AAG>AAT	614 (c.1842)	17		HGMD listed		Patients: Tanzanian	(32)
OCA2	IVS17+1g-t	AAG gt>AAG tt	614 (c.1842)	IVS17		HGMD listed			(19)
Polymorphism	His 615 Arg	ag CAT>ag CGT	615 (c.1844)	18		rs1800414		Patients: Asian German	(18) (34) (38) (25)
OCA2	Ile 617 Leu	ATA>TTA	617 (c.1849)	18		HGMD listed			(24)
Polymorphism	Asp 619 Asp	GAC>GTC	619 (c.1856)	18		rs7164127			(5)
SNP	Asp 619 Asp	GAC>GAT	619 (c.1857)	18		rs7164217		Patients:	dbSNP
OCA2	Cys 626 Arg	TGC>CGC	626 (c.1876)	18				Compound: N489D Patients: Danish	(8)
Polymorphism	Val 629 Val	GTG>GTT	629 (c.1887)	18		rs1800415			(18) (14)
OCA2	Ile 646 Val	ATT>GTT	646 (c.1936)	18				Patients: Northern Europe	(22)
OCA2	c.1939insC	ATT CAT>ATT CCA T	647 (c.1939)	18				Patients: Northern Europe	(22)
OCA2	IVS18+1g>a	CTT G gtgag>CTT G atgag	651 (c.1951)	IVS18				Patients: Northern Europe Phillipines	(22)
Polymorphism	IVS18+24c>g	ttcat>ttgat	651 (c.1951)	IVS18					(14)
Polymorphism	IVS18-59delt	tgtta>tg_ta	651 (c.1951)	IVS18				Homozygous	(18) (31)
Polymorphism	IVS18+45g>c	tggat>tgcat	651 (c.1951)	IVS18		rs66538504			(5)
OCA2	Trp 652 Arg	TGG>AGG	652 (c.1954)	20		HGMD listed		Typical Homozygous Compound: R811S	(32)
OCA2	c.1960delG	ATT GCT>ATT _CT	654 (c.1960)	20		HGMD listed			(19)
OCA2	Glu 678 Lys	GAA>AAA	678 (c.2032)	20		HGMD listed			(24) (14)
OCA2	Trp 679 Arg	TGG>CGG	679 (c.2035)	20		HGMD listed		Compound: K614E N489D R305W	(17)
OCA2	Trp 679 Cys	TGG>TGC	679 (c.2037)	20	CfoI-	HGMD listed			(24) (25)
OCA2	c.2050insT	CTG TTT>CTGTTTT	683 (c.2050)	20		HGMD listed			(14)
OCA2	c.2050delT	CTG TTT>CTG _TT	684 (c.2050)	20				Patients: Northern Europe	(22)
Polymorphism	Ala 686 Ala	GCA>GCC	686 (c.2058)	20		rs1800416			(18) (14)
OCA2	Ala 687 Val	GCG>GTG	687 (c.2060)	20				Compound: 2.7 kb del Patients: Spain	(4)
OCA2	Leu 688 Phe	CTC>TTC	688 (c.2062)	20		HGMD listed			(14)
OCA2	c.2106delAinsTTC	ATA GAA TAT>ATA GAT TCT AT	702 (c.2106)	21				Compound: A481T Patients: France	(27) (8)
Polymorphism	IVS21+22a>t	agaag>agtag	713 (c.2139)	IVS21					(18) (14)
Polymorphism	IVS21+18a>g	taata>tagta	713 (c.2139)	IVS21		rs66538505			(18) (14) (34)
Polymorphism	IVS21+25c>g	aggca>agcca	713 (c.2139)	IVS21					(18) (14) (22)
Polymorphism	IVS21+8ins a	ataaa>ataaa a	713 (c.2139)	IVS21					(22)
OCA2	IVS21-2a>g	cag ATG>cgg ATG	714 (c.2140)	IVS21		HGMD listed			(32)
OCA2	Glu 718 ter	GAG>TAG	718 (c.2152)	22				Homozygous Patients: German	(25)
OCA2	Arg 720 Cys	CGC>TGC	720 (c.2158)	22		HGMD listed			(24)
Polymorphism / OA	Ile 722 Thr	ATA>ACA	722 (c.2165)	22		rs1800417		Compound: R419Q = OA	(18) (14) (11) (25)
OCA2	Ala 724 Pro	GCC>CCC	724 (c.2170)	21		HGMD listed		Compound: G27R Patients: 812	(21) (32)
OCA2	c.2176delGTCCT	ATT GTC CTG GTG>ATT ___ __G GTG	726 (c.2176)	22					(23) (32)
OCA2	Leu 727 Pro	CTG>TTG	727 (c.2180)	22				Compound: N489D T450K Patients: Danish	(8) (36)
OCA2	c.2181insG	CTG GTG>CTGGGTG	727 (c.2181)	22		HGMD listed			(14)
OCA2	Cys 430 ter	TGT>TGA	730 (c.1290)	24				Compound: R455G	(36)
OCA2	Ser 732 Leu	TCA>TTA	732 (c.2195)	22				Compound: c.898insG Patients: Turkey	(27)
OCA2	Ser 736 Leu	TCG>TTG	736 (c.2207)	22				Typical Compound: G27R	(33) (7)
Polymorphism	Ser 736 Ser	TCG>TCA	736 (c.2208)	22		rs1800418			(18) (14)
SNP	Ile 737 Ser	TCC>ACC	737 (c.2209)	22		rs35039405		Patients:	dbSNP
OA	Asn 741 Lys	AAC>AAA	741 (c.2223)	22				Compound: V443I Patients: German	(25)
OCA2	Pro 743 Arg	CCG>CGG	743 (c.2228)	22				Compound: 2.7 kb del Patients: Spain	(27)
OCA2	Pro 743 Leu	CCG>CTG	743 (c.2228)	22		HGMD listed		Homozygous Patients: Indian	(17) (19) (16) (31)
SNP	Pro 743 Pro	CCG>CCA	743 (c.2229)	22		rs41301789		Patients:	dbSNP
SNP	Thr 745 Thr	ACT>ATT	745 (c.2234)	22		rs41301789		Patients:	dbSNP
Polymorphism	IVS22+18a>g	ccatg>ccgtg	748 (c.2244)	IVS22		rs41304383		Patients: Indian	(31)
Polymorphism	IVS22-94t>a	gctga>gcaga	749 (c.2245)	IVS22					(22)
OCA2	Ala 765 Thr	GCA>ACA	765 (c.2293)	23				Compound: single Patients: German	(25)
OCA2	Gly 775 Arg	GGT>CGT	775 (c.2323)	23				Patients: Chinese	(9)
OCA2	Gly 775 Ser	GGT>AGT	775 (c.2323)	23				Compound: single Patients: German	(25)
OCA2	Ala 776 Asp	GCT>GAT	776 (c.2327)	23				Compound: K155N	(36)
Polymorphism	Ala 776 Ala	GCT>GCC	776 (c.2328)	23		rs1800419			(24) (18) (14) (2) (11) (31)
OCA2	c.2334delG	CTG GGA>CT_ GGA	778 (c.2334)	23		HGMD listed		Compound: N489D	(24) (8)
Polymorphism	IVS23+37c>t	cacgc>catgc	780 (c.2338)	IVS23					(22)
Polymorphism	IVS23+75t>c	tacgt>gatgt	780 (c.2338)	IVS23		rs8025804			(2)
Polymorphism	Gly 780 Gly	tag GC>tag GT	780 (c.2340)	24		rs1800420		Not related to any variation in skin pigmentation	(18) (14) (12) (30) (1) (11)
OCA2	Gly 782 Arg	GCT>GAT	782 (c.2344)	24				Compound: c.980insT	(36)
OCA2	c.2351del26bp	ACA CTG ATT GGC GCG TCG GCA AAC GTC GTG TGT>ACA C__ ___ ___ ___ ___ ___ ___ ___ ___ TGT	784 (c.2351)	24				Compound: c.860del24bp	(36)
OCA2	Ala 787 Thr	GCG>ACG	787 (c.2359)	24				Homozygous Patients: Chinese Indian	(9) (31)
OCA2	Ala 787 Val	GCG>GTG	787 (c.2360)	24		HGMD listed		Compound: G27R Patients: 815	(21)
Polymorphism	Ser 788 Ser	TCG>TCA	788 (c.2364)	24		rs12592307			(24) (18) (14) (12) (30) (34) (31)
Polymorphism	Gln 789 Ala	GCA>CAA	789 (c.2365)	24					(22)
OCA2	c.2370delCGT	AAC GTC GTG>AA_ __C GTG	790 (c.2370)	24				Patients: Japanese	(10)
OCA2	c.2372delTC	AAC GTC GTG>AAC G__ GTG	791 (c.2372)	24				Patients: Ashkenazi Jews	(22)
OA	Cys 793 Phe	TGT>TTT	793 (c.2378)	24	BsgI-			Compound: V443I N476S Patients: German	(25)
OCA2	Gly 795 Arg	GGG>CGG	795 (c.2383)	24		HGMD listed			(24)
OCA2	Gln 799 His	CAG>CAC	799 (c.2397)	24				Patients: Japanese	(12)
Polymorphism	IVS24+21a>g	aaattt>aagtt	811 (c.2432)	IVS24					(22)
Polymorphism	IVS24+11g>c	cag GC>cac GC	811 (c.2432)	IVS24					(34)
OCA2	Arg 811 Ser	tcag G CTG>tcag T CTG	811 (c.2433)	25				Compound: T652R Patients: France	(27)
OCA2	IVS24-1g>c	cag GC>caa GC	811 (c.2433)	IVS24				Patients: Japanese	(34)
OCA2	Met 816 Lys	TGT>TTT	816 (c.2448)	25				Compound: P211L Patients: German	(25)
OCA2	Gly 824 Arg	TGT>TAT	824 (c.2477)	25				Homozygous Patients: Indian	(31)
OCA2	Tyr 827 His	GCG>ACG	827 (c.2466)	24				Compound: N476D Patients: Chinese	(9)
OA	c.2498delTGG	CAT GTG GTG>CAT G__ _TG	833 (c.2498)	25		HGMD listed		Compound: 163delG	(24)
SNP	Val 834 Met	GTG>ATG	834 (c.2500)	25		rs34704703		Patients:	dbSNP
OA	c.2502delG	GTG GTG GTG>GTG GT_ GTG	834 (c.2502)	25				Compound: I491T R419Q [V443I,M816K] Patients: German	(25)
Polymorphism	2899tc	cttgt>ctcgt	837 (c.2899)	3'UTR					(23)
Polymorphism	2564a>g	tcaca>tcgca	838 (c.2564)	3'UTR					(22)

References: Akey,J.M., Wang,H., Xiong,M., Wu,H., Liu,W., Shriver,M.D., and Jin,L. Interaction between the melanocortin-1 receptor and P genes contributes to inter-individual variation in skin pigmentation phenotypes in a Tibetan population. 2001; Hum.Genet. 108: 516-520. Goto Top Aquaron,R., Soufir,N., Berge-Lefranc,J.L., Badens,C., Austerlitz,F., and Grandchamp,B. Oculocutaneous albinism type 2 (OCA2) with homozygous 2.7-kb deletion of the P gene and sickle cell disease in a Cameroonian family. Identification of a common TAG haplotype in the mutated P gene. 2007; J.Hum.Genet. 52: 771-780. Goto Top Chiang,P.W., Fulton,A.B., Spector,E., and Hisama,F.M. Synergistic interaction of the OCA2 and OCA3 genes in a family. 2008; Am.J.Med.Genet.A. 146A: 2427-2430. Goto Top Chiang,P.W., Spector,E., and Tsai,A.C. Evidence suggesting the inheritance mode of the human P gene in skin complexion is not strictly recessive. 2008; Am.J.Med.Genet.A. 146A: 1493-1496. Goto Top Duffy,D.L., Montgomery,G.W., Chen,W., Zhao,Z.Z., Le,L., James,M.R., Hayward,N.K., Martin,N.G., and Sturm,R.A. A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation. 2007; Am.J.Hum.Genet. 80: 241-252. Goto Top Durham-Pierre,D., Gardner,J.M., Nakatsu,Y., King,R.A., Francke,U., Ching,A., Aquaron,R., del,M., V, and Brilliant,M.H. African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism. 1994; Nat.Genet. 7: 176-179. Goto Top Garrison,N.A., Yi,Z., Cohen-Barak,O., Huizing,M., Hartnell,L.M., Gahl,W.A., and Brilliant,M.H. P gene mutations in patients with oculocutaneous albinism and findings suggestive of Hermansky-Pudlak syndrome. 2004; J.Med.Genet. 41: e86 Goto Top Gronskov,K., Ek,J., Sand,A., Scheller,R., Bygum,A., Brixen,K., Brondum-Nielsen,K., and Rosenberg,T. Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism. 2009; Invest Ophthalmol Vis.Sci. 50: 1058-1064. Goto Top Hongyi,L., Haiyun,W., Hui,Z., Qing,W., Honglei,D., Shu,M., and Weiying,J. Prenatal diagnosis of oculocutaneous albinism type II and novel mutations in two Chinese families. 2007; Prenat.Diagn. 27: 502-506. Goto Top Ito,S., Suzuki,T., Inagaki,K., Suzuki,N., Kono,M., Tomita,Y., Iwamoto,T., and Mochizuki,N. Two novel mutations detected in Japanese patients with oculocutaneous albinism. 2006; J.Dermatol.Sci. 44: 116-118. Goto Top Jannot,A.S., Meziani,R., Bertrand,G., Gerard,B., Descamps,V., Archimbaud,A., Picard,C., Ollivaud,L., Basset-Seguin,N., Kerob,D., Lanternier,G., Lebbe,C., Saiag,P., Crickx,B., Clerget-Darpoux,F., Grandchamp,B., Soufir,N., and Melan,C. Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma. 2005; Eur.J.Hum.Genet. 13: 913-920. Goto Top Kato,A., Fukai,K., Oiso,N., Hosomi,N., Saitoh,S., Wada,T., Shimizu,H., and Ishii,M. A novel P gene missense mutation in a Japanese patient with oculocutaneous albinism type II (OCA2). 2003; J.Dermatol.Sci. 31: 189-192. Goto Top Kawai,M., Suzuki,T., Ito,S., Inagaki,K., Suzuki,N., and Tomita,Y. A patient with subclinical oculocutaneous albinism type 2 diagnosed on getting severely sunburned. 2005; Dermatology. 210: 322-323. Goto Top Kerr,R., Stevens,G., Manga,P., Salm,S., John,P., Haw,T., and Ramsay,M. Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa. 2000; Hum.Mutat. 15: 166-172. Goto Top King,R.A., Pietsch,J., Fryer,J.P., Savage,S., Brott,M.J., Russell-Eggitt,I., Summers,C.G., and Oetting,W.S. Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype. 2003; Hum.Genet. 113: 502-513. Goto Top King,R.A., Willaert,R.K., Schmidt,R.M., Pietsch,J., Savage,S., Brott,M.J., Fryer,J.P., Summers,C.G., and Oetting,W.S. MC1R Mutations Modify the Classic Phenotype of Oculocutaneous Albinism Type 2 (OCA2). 2003; Am.J.Hum.Genet. 73: 638-645. Goto Top Lee,S.T., Nicholls,R.D., Bundey,S., Laxova,R., Musarella,M., and Spritz,R.A. Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism. 1994; N.Engl.J.Med. 330: 529-534. Goto Top Lee,S.T., Nicholls,R.D., Jong,M.T., Fukai,K., and Spritz,R.A. Organization and sequence of the human P gene and identification of a new family of transport proteins. 1995; Genomics. 26: 354-363. Goto Top Lee,S.T., Nicholls,R.D., Schnur,R.E., Guida,L.C., Lu Kuo,J., Spinner,N.B., Zackai,E.H., and Spritz,R.A. Diverse mutations of the P gene among African-Americans with type II ( ) oculocutaneous albinism (OCA2). 1994; Hum.Mol.Genet. 3: 2047-2051. Goto Top Manga,P., Kromberg,J.G., Turner,A., Jenkins,T., and Ramsay,M. In Southern Africa, Brown Oculocutaneous Albinism (BOCA) Maps to the OCA2 Locus on Chromosome 15q: P-Gene Mutations Identified. 2001; Am.J.Hum.Genet. 68: 782-787. Goto Top Oetting,W.S., Gardner,J.M., Fryer,J.P., Ching,A., Durham Pierre,D., King,R.A., and Brilliant,M.H. Mutations of the human P gene associated with Type II oculocutaneous albinism (OCA2). 1998; Hum.Mutat. 12: 434 Goto Top Oetting,W.S., Garrett,S.S., Brott,M., and King,R.A. P gene mutations associated with oculocutaneous albinism type II (OCA2). 2005; Hum.Mutat. 25: 323 Goto Top Oetting,W.S. and King,R.A. Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism. 1999; Hum.Mutat. 13: 99-115. Goto Top Passmore,L., Käsmann-Kellner,B., and Weber,B.H.F. Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population. 1999; Hum.Genet. 105: 200-210. Goto Top Preising,M.N., Forster,H., and Lorenz,B. Mutations screening of TYR, OCA2, GPR143, and MC1R in Patients Identified by Congenital Nystagmus, Macular Hypoplasia and Hypopiogmentatof the Fundus; the Classical Features of Ocular and Oculocutaneous Albinism. 2010; submitted for publication. Goto Top Rebbeck,T.R., Kanetsky,P.A., Walker,A.H., Holmes,R., Halpern,A.C., Schuchter,L.M., Elder,D.E., and Guerry,D. P gene as an inherited biomarker of human eye color. 2002; Cancer Epidemiol.Biomarkers Prev. 11: 782-784. Goto Top Rooryck,C., Morice-Picard,F., Elcioglu,N.H., Lacombe,D., Taieb,A., and Arveiler,B. Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects. 2008; Pigment Cell Melanoma Res. 21: 583-587. Goto Top Rosenmann,A., Bejarano-Achache,I., Eli,D., Maftsir,G., Mizrahi-Meissonnier,L., and Blumenfeld,A. Prenatal molecular diagnosis of oculocutaneous albinism (OCA) in a large cohort of Israeli families. 2009; Prenat.Diagn. 29: 939-946. Goto Top Saadeh,R., Lisi,E.C., Batista,D.A., McIntosh,I., and Hoover-Fong,J.E. Albinism and developmental delay: the need to test for 15q11-q13 deletion. 2007; Pediatr.Neurol. 37: 299-302. Goto Top Saitoh,S., Oiso,N., Wada,T., Narazaki,O., and Fukai,K. Oculocutaneous albinism type 2 with a P gene missense mutation in a patient with Angelman syndrome. 2000; J.Med.Genet. 37: 392-394. Goto Top Sengupta,M., Mondal,M., Jaiswal,P., Sinha,S., Chaki,M., Samanta,S., and Ray,K. Comprehensive Analysis of the Molecular Basis of OCA in Indian Patients Lacking Mutation in Tyrosinase Gene. 2010; Br.J.Dermatol. Goto Top Spritz,R.A., Fukai,K., Holmes,S.A., and Luande,J. Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2). 1995; Am.J.Hum.Genet. 56: 1320-1323. Goto Top Spritz,R.A., Lee,S.T., Fukai,K., Brondum Nielsen,K., Chitayat,D., Lipson,M.H., Musarella,M.A., Rosenmann,A., and Weleber,R.G. Novel mutations of the P gene in type II oculocutaneous albinism (OCA2). 1997; Hum.Mutat. 10: 175-177. Goto Top Suzuki,T., Miyamura,Y., Matsunaga,J., Shimizu,H., Kawachi,Y., Ohyama,N., Ishikawa,O., Ishikawa,T., Terao,H., and Tomita,Y. Six novel P gene mutations and oculocutaneous albinism type 2 frequency in Japanese albino patients. 2003; J Invest Dermatol. 120: 781-783. Goto Top Suzuki,T., Miyamura,Y., and Tomita,Y. High frequency of the Ala481Thr mutation of the P gene in the Japanese population. 2003; Am J Med Genet A. 118: 402-403. Goto Top Wei,A., Wang,Y., Long,Y., Wang,Y., Guo,X., Zhou,Z., Zhu,W., Liu,J., Bian,X., Lian,S., and Li,W. A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism. 2010; J.Invest Dermatol. 130: 716-724. Goto Top Yi,Z., Garrison,N., Cohen-Barak,O., Karafet,T.M., King,R.A., Erickson,R.P., Hammer,M.F., and Brilliant,M.H. A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population. 2003; Am.J.Hum.Genet. 72: 62-72. Goto Top Yuasa,I., Umetsu,K., Harihara,S., Kido,A., Miyoshi,A., Saitou,N., Dashnyam,B., Jin,F., Lucotte,G., Chattopadhyay,P.K., Henke,L., and Henke,J. Distribution of two Asian-related coding SNPs in the MC1R and OCA2 genes. 2007; Biochem.Genet. 45: 535-542. Goto Top
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DATABASES

Mutation Databases

Human Homologue of the Mouse Pink-eyed Dilution Gene (OCA2)

Recent update from: 16.05.2010

This site is maintained and edited by
Dr. rer. medic. Markus Preising, Dipl.Biol.
Laboratory of Molecular Ophthalmology
Department of Opthalmology
Justus-Liebig-University, Giessen, Germany
Head: Prof. Dr. med. Birgit Lorenz

This site includes links which are off influence of Retina International and do not neccessarily reflect the opinion of Retina International. Therefore, we refrain from any responsibility for these external links.

Mutation Map

P-gene Mutation Map

NCBI GenBank: 4948 - Gen Map (Built: GRCH37): 28000020-28344457

The sequence data are adjusted to a sequence given in a WORD file which can be downloaded here. Nucleotides are counted from the first nucleotide of the starting Methionine codon.

Phenotype

Mutation

Basechange

Codon (Nucleotide)

Exon

Restriction site

HGMD / dbSNP

OMIM

Remarks

Reference

OCA2

Arg 10 Trp

CGG>TGG

010 (c.0028)

Compound:

A481T

Patients: Japanese

(34)

Polymorphism

Ala 16 Ala

GCG>GCA

016 (c.0048)

(34)

SNP

Gln 21 Gln

CAG>CAA

021 (c.0063)

rs61742223

Patients:

dbSNP

SNP

Gln 21 His

CAG>CAC

021 (c.0063)

rs61742223

Patients:

dbSNP

OCA2

Gly 27 Arg

GGA>AGA

027 (c.0079)

HGMD listed

rs61738394

Typical
Homozygous Compound:

single
S736L

Patients: Israelites

(33)

(7)

(22)

(28)

SNP

Arg 37 Arg

AGG>AGA

037 (c.0111)

rs41309258

Patients:

dbSNP

OCA2

c.157delA

CCC AGG GGG>CCC _GG GGG

053 (c.0157)

Patients: Danish

(8)

OCA2

c.158delG

AGG GGG GCT>A_G GGG GCT

053 (c.0158)

HGMD listed

Compound:

V833del

(24)

OCA2

c.168delC

GCT GCC GGG>GCT GC_ GGG

056 (c.0168)

Compound:

R243C

(36)

OCA2

Trp 61 ter

TGG>TAG

061 (c.0182)

Compound:

IVS15-19a>g

Patients: Netherlands

(27)

OCA2

Ser 86 Arg

AGC>AGG

086 (c.0258)

HGMD listed

Compound:

single

Patients: 172

(21)

OCA2

Glu 96 Ala

GAA>GCA

096 (c.0287)

homozygous
Patients: Danish

(8)

Polymorphism

IVS3+42g>t

gagca>gatca

109 (c.0326)

IVS03

Patients: Caucasian, African American

(21)

OCA2

IVS3-n_IVS20+n

gross deletion

109 (c.0327)

IVS3

Homozygous
Compound:

A334V

Patients: Spain
Poland

(27)

OCA2

Cys 112 Phe

TGC>TTC

112 (c.0335)

HGMD listed

Compound:

single

Patients: 530

(21)

SNP

Thr 122 Ile

ACT>ATT

122 (c.0365)

rs34385677

Patients:

dbSNP

OCA2

Arg 136 ter

CGA>TGA

136 (c.0406)

Compound:

single

(36)

SNP

Arg 136 Gln

CGA>CAA

136 (c.0407)

rs35764631

Patients:

dbSNP

OCA2

Lys 155 Asn

AAG>AAT

155 (c.0465)

Compound:

A776D

(36)

OCA2

c.482delG

AGC CCG>A_C CCG

161 (c.0482)

Typical
Compound:

single

(33)

(8)

Polymorphism

IVS4-53t>a

gtctg>gtcag

172 (c.0516)

IVS04

Patients: Caucasian

(21)

Polymorphism

IVS5-39t>c

catac>cacac

192 (c.0574)

IVS05

(14)

OCA2

IVS5-19a>g

caacg>cagcg

192 (c.0574)

IVS05

HGMD listed

Compound:

IVS3-n_IVS20+n
R419Q

Patients: Tanzanian
Spain

(32)

(15) (25)

Polymorphism

IVS5-18c>t

aacgt>aatgt

192 (c.0574)

IVS05

(18)

Polymorphism

IVS5-53c>g

tacct>tagct

192 (c.0574)

IVS05

(5)

OCA2

Pro 198 Leu

CCG>TCG

198 (c.0592)

Homozygous
Compound:

Single

Patients: Japanese

(34)

(36)

OCA2

Trp 204 ter

TGG>TGA

204 (c.0612)

Patients: Northern Europe

(22)

OCA2

c.615del18bp

CAG CTG TTG GCC TTA TCA CCG>CA_ ___ ___ ___ ___ ___ __G

205 (c.0615)

HGMD listed

(17)

(15)

OCA2

Pro 211 Leu

CCG>TCG

211 (c.0631)

Compound:

V443I
IVS24-1g>c

Patients: Japanese

(34)

(8)

OCA2

2.7 kb del

216 (c.0647)

IVS06

HGMD listed

Homozygous Heterozygous
Compound:

single
G485V
P743R

Patients: African family presenting OCA2 and OCA3
France
Cameroon
Spain

(6)

(24)

(20)

(2)

(29)

(27)

SNP

Pro 241 Arg

CCG>CGG

241 (c.0722)

rs2305253

Patients:

(5)

OCA2

Arg 243 Cys

CGT>TGT

243 (c.0727)

Compound:

c.168delC
single

(36)

OCA2

His 249 Asp

CAC>CAG

249 (c.0747)

Compound:

2.7 kb del

Patients: Cameroon

(27)

Polymorphism

Asp 257 Ala

GAT>GCT

257 (c.0770)

rs1050968

Patients: Caucasian
African American
Asian
German

(21) (25)

SNP

Arg 266 Trp

CGG>TGG

266 (c.0796)

rs33929465

Patients:

(31)

Polymorphism

IVS7+23a>t

gaaag>gatag

269 (c.0807)

IVS07

(18)

Polymorphism

IVS7+25g>c

gaaag>gaaac

269 (c.0807)

IVS07

Patients: Caucasian, African American

(21)

Polymorphism

IVS7-3c>g

tacag>tagag

270 (c.0808)

IVS07

(3)

OCA2

c.819invCTGG

AAC TGG ACG>AAG GTC ACG

273 (c.0819)

Compound:

T450M

Patients: Africa

(27)

(4)

OCA2

Asn 273 Lys

AAC>AAG

273 (c.0819)

Compound:

W274V

(17)

(15)

(7) (25)

OCA2

Trp 274 Val

TGG>GTC

274 (c.0822)

Compound:

N273K

(17)

(15)

(7) (25)

OCA2

c.860del24bp

TCA GTG ATG AGC AGG ACC TTT GAG GTA CTG ACC>TCA G__ ___ ___ ___ ___ ___ ___ ___ _TG ACC

287 (c.0860)

Compound:

c.2351del26bp

(36)

OCA2 / OA

Arg 290 Gly

AGG>GGG

290 (c.0868)

AciI+

HGMD listed

Homozygous
Compound:

V443I

(24)

(15) (25)

Polymorphism

IVS8-53g>t

gaggt>gatgt

297 (c.0891)

IVS8

(22)

OCA2

c.897insG

ACG GTG>ACGGGTG

300 (c.0897)

Compound:

S732L

Patients: Turkey

(27)

Polymorphism / OCA / OA

Arg 305 Trp

CGG>TGG

305 (c.0913)

MspI-

rs1800401

Homozygous = OCA
Compound:

[V443I, A765T] = OCA
V443I = OA / OCA
N489D = OCA
R419Q = OCA
W679C = OCA

(24)

(18)

(11)

(26)

(14)

(2) (25)

(31)

Polymorphism

Leu 308 Leu

CTG>TTG

308 (c.0922)

rs1800402

Patients: Caucasian

(21)

Pro 315 Ser

CCT>TCT

315 (c.0943)

Compound:

single

(25)

OCA2

Gln 321 Pro

CAG>CCG

321 (c.0962)

Compound:

single

(36)

Polymorphism

Gln 321 Gln

CAG>CAA

321 (c.0963)

(14)

OCA2

c.980insT

AGT GTA GAA >AGT GTT AGA A

325 (c.0980)

Compound:

G782R

(36)

OCA2

Ala 334 Val

GCG>GTG

334 (c.1001)

HGMD listed

rs34010619

Compound:

IVS3-n_IVS20+n

Patients: Spain

(14)

(27)

Polymorphism

Ala 336 Ala

GCC>GTC

336 (c.1007)

(14)

OCA2

Tyr 342 Cys

TAC>TGC

342 (c.1025)

Compound:

single

Patients: Danish

(8)

Polymorphism

Tyr 342 Tyr

TAC>TAT

342 (c.1026)

rs1800403

(18)

(14)

OCA2

c.1045delAT

ccag __C>ccag ATC

349 (c.1045)

Patients: Caucasian

(22)

OCA2

IVS9-2a>g

tccag ATC>tccgg ATC

349 (c.1045)

IVS09

Homozygous
Patients: Indian

(31)

OCA2

IVS9-1363del6592bp

Deletion of Exon 10 - 20

349 (c.1045)

IVS09

Patients: Japanese

(37)

OCA2

c.1047del7bp

ATC GTG CAC AGA>AT_ ___ ___ AGA

349 (c.1047)

HGMD listed

Compound:

Del exon 7

Patients: 733

(21)

OCA2

Val 350 Met

GTG>ATG

350 (c.1048)

HGMD listed

(14)

Polymorphism

Ala 355 Ala

GCG>GCA

355 (c.1065)

rs1800404

(24)

(18)

(14)

(31)

Polymorphism

Ser 360 Ser

TCC>TCT

360 (c.1080)

(22)

OCA2

Leu 361 Val

CTT>GTT

361 (c.1081)

Compound:

single

Patients: German

(25)

SNP

Ala 368 Gly

GCT>GGT

368 (c.1103)

rs61745150

Patients:

dbSNP

SNP

Ala 368 Asp

GCT>GAT

368 (c.1103)

rs61745150

Patients:

dbSNP

OCA2

Ala 368 Val

GCT>GTT

368 (c.1103)

HGMD listed

Homozygous
Patients: 722

(21)

OCA2

Ile 370 Thr

ATT>ACT

370 (c.1109)

HGMD listed

rs34731820

(14)

OCA / Polymorphism

Gly 371 Gly

GGC>GGG

371 (c.1113)

rs1800405

Homozygous
Compound:

R419Q = OCA
in cis G775S

(18)
(25)

OCA2

IVS10+6t>c

agttg>agctg

372 (c.1116)

IVS10

HpnI+

HGMD listed

rs34010619

Compound:

V443I

Patients: France

(25)

(27)

Polymorphism

Leu 376 Leu

CTG>CTT

376 (c.1128)

rs1800406

Patients: Caucasian, African American, Asian

(21)

SNP

Val 380 Met

GTG>ATG

380 (c.1138)

rs41529845

Patients:

(5)

OCA2

Phe 385 Ile

TTT>ATT

385 (c.1153)

HGMD listed

(17)

Polymorphism

Thr 387 Met

ACG>ATG

387 (c.1160)

Patients: Japanese

(34)

Polymorphism

IVS11-4a>g

ccata>ccgta

393 (c.1183)

IVS11

rs10852218

Patients: Indian

(24)

(18)

(14)

(30)

(12)

(31)

OCA2

Met 394 Ile

ATG>ATA

394 (c.1182)

Compound:

single
A481T

Patients: Japanese

(34)

(13)

Polymorphism

IVS11+19g>a

ccgtg>ccatg

394 (c.1182)

IVS11

(34)

(14)

OCA2

Met 395 Leu

ATG>CTG

395 (c.1183)

HGMD listed

Splice defect?

(17)

Unclassified

Glu 403 Gly

GAA>GGA

403 (c.1208)

Patients: Indian

(31)

OCA2

Leu 404 Met

ACG>ATG

404 (c.1211)

Compound:

single

(23)

(8)

OCA2

IVS12+5g>a

AAG gtagg tat>AAG gtaga tat

413 (c.1239)

IVS12

Patients: African-American West Indian Puerto Rican

(15)

OCA2

Tyr 415 His

TAC>CAC

415 (c.1243)

homozygous
Patients: Danish

(8)

OCA2

Arg 419 Trp

CGG>TGG

419 (c.1255)

MspI-, SmaI-

HGMD listed

Typical
homozygous Compound:

I473S
V443I = OCA / OA
c.1113C>T
IVS5-19a>g = OCA
I491T = OCA
N741K = OA
I722T = OA
M816K = OA
c.2502delG = OA

(33) (25)

Polymorphism

Arg 419 Gln

CGG>CAG

419 (c.1256)

MspI-, SmaI-

rs1800407

(24)

(5)

(18)

(26)

(11)

OCA2

c.1273delATG

GCC ATG ATC>GCC ___ ATC

425 (c.1273)

HGMD listed

(17)

Polymorphism

Leu 440 Phe

TTG>TTC

440 (c.1320)

rs1800408

(18)

(11)

OCA2 / OA

Val 443 Ile

GTC>ATC

443 (c.1327)

PsyI-

HGMD listed

rs28934272

Homozygous = OCA
Compound: OCA

IVS16+2T>C
G775R
IVS10+6t>c
R419Q

N489D
P211L
[R419Q, N741K]
in cis G765T
in cis M816K
C793F
R419Q
R305W
R290G
c.2502delG

(19)

(24)

(17)

(15)

(16)

(22)

(9)

(8)

Met 446 Val

ATG>GTG

446 (c.1336)

HGMD listed

Typical
Compound:

single

(33)

OCA2

Thr 450 Lys

ACG>AAG

450 (c.1349)

Compound:

L727P

(36)

OCA2

Thr 450 Met

ACG>ATG

450 (c.1349)

HpnI+

HGMD listed

rs34010619

Compound:

c.819invCTGG

Patients: Africa

(27)

OCA2

Arg 455 Gly

AGG>GGG

455 (c.1363)

Compound:

C430X
single

(36)

Polymorphism

IVS13+4c>a

gtacg>gtaag

455 (c.1364)

IVS13

(18)

(14)

Polymorphism

IVS13+180c>t

tttgt>ttcgt

455 (c.1364)

IVS13

rs1800401

(11)

Polymorphism

IVS13+26a>g

agttg>ggttg

455 (c.1364)

IVS13

rs1800410

Patients: Indian

(18)

(14)

(2)

(31)

Polymorphism

IVS13+25a>g

gggag>ggggg

455 (c.1364)

IVS13

(11)

Polymorphism

IVS13+122a>g

aaaag>aagag

455 (c.1364)

IVS13

rs1800401

(11)

(2)

Polymorphism

IVS13-15t>c

cttcc>cctcc

455 (c.1365)

IVS13

Not involved in variations of skin pigmentation
Patients: Tibetian

(24)

(1)

(18)

(14)

(13)

(11)

Polymorphism

IVS13-11a>t

ccatt>ccttt

455 (c.1365)

IVS13

Patients: Caucasian

(21)

(14)

Polymorphism

Glu 458 Glu

GAG>GAA

458 (c.1374)

(18)

OCA2

Ile 473 Ser

ATC>AGC

473 (c.1418)

HGMD listed

Typical
Compound:

R419W

(19)

(33)

OCA2

Asn 476 Asp

AAC>GAC

476 (c.1426)

Compound

Y827H

Patients: Chinese

(9)

Asn 476 Ser

AAC>AGC

476 (c.1427)

Homozygous
Compound:

C793F

Patients: German

(25)

OCA2

Ala 481 Thr

GCC>ACC

481 (c.1441)

HGMD listed

Compound:

single
IVS15+1g>a
R10W
M394I
c.2106delGinsTTC

Patients: France
Germany

(19)

(34)

(12)

(33)

(35)

(27)

(8)

(13)
Preising 2010

OCA2

Gly 485 Val

GGG>GTG

485 (c.1454)

Compound:

N489D
c.647insC

Patients: France
Denmark

(27)

(8)

OCA2, OA

Asn 489 Asp

AAT>GAT

489 (c.1465)

Hpy188I+

HGMD listed

Severe
Homozygous
Compound:

single
L727P
C626R
V443I
R305W = OCA
V443I = OA
c.2326delG
W679C

(33)

(15)

(16)

(8) (25)

Ile 491 Thr

ATT>ACT

491 (c.1472)

Compound:

R419Q

Same allele:

c.2502delA

Patients: German

(25)

Polymorphism

IVS14+5g>a

gtacg>gtaca

501 (c.1503)

IVS14

(14)

(22)

OCA2

IVS14-2a>g

ccagg>ccggg

502 (c.1504)

IVS14

HGMD listed

(14)

Polymorphism

Cys 517 Cys

TGC>TGT

517 (c.1551)

rs1800411

(18)

(14)

(24)

(34)

(31)

OCA2

c.1555delG

CTT GTT>CTT_TT

519 (c.1555)

HGMD listed

Patients: Mexican

(22)

OCA2

Val 519 Ala

GTT>GCT

519 (c.1556)

rs41446944

Compound:

single

Patients: Japanese
Danish

(5)

(15)

(8)

SNP

Ile 544 Thr

ATT>ACT

544 (c.1631)

rs34141095

Patients:

dbSNP

OCA2

IVS15+1g>a

GTT G gtgag>GTT G atgag

546 (c.1636)

IVS15

Compound:

A481T

Patients: Northern Europe

(22)

(34)

Polymorphism

IVS15+78c>t

attag>atcag

546 (c.1636)

IVS16

(5)

OCA2

His 549 Gln

CAC>CAA

549 (c.1647)

HGMD listed

(23)

OCA2

Arg 555 Cys

CGC>TGC

555 (c.1663)

Compound:

single

(36)

OCA2

Ala 558 Pro

GCT>CCT

558 (c.1672)

Homozygous
Patients: France

(27)

SNP

Arg 560 His

CGC>CAC

560 (c.1679)

rs35110389

Patients:

dbSNP

SNP

Leu 582 Val

CTG>GTG

582 (c.1744)

rs61751032

Patients:

dbSNP

SNP

Leu 582 Met

CTG>ATG

582 (c.1744)

rs61751032

Patients:

dbSNP

Polymorphism

His 584 His

ccatg>ccgtg

584 (c.1752)

Patients: Indian

(31)

OCA2

c.1757delT

caacg>cagcg

586 (c.1757)

Patients: Northern European

(16)

Polymorphism

His 591 His

CAC>CAT

591 (c.1773)

rs1800412

Patients: Caucasian, African American

(21)

OCA2

Thr 592 Ile

ACC>ATC

592 (c.1775)

HGMD listed

rs1800413

Compound:

single

Patients: 688

(21)

Polymorphism

IVS16+71g>a

gcgac>gcaac

595 (c.1784)

IVS16

(22)

OCA2

IVS16+2t>c

AGgta>Aggca

595 (c.1784)

IVS16

HGMD listed

Compound:

V443I

(24)

Polymorphism

IVS16+93a>g

acgtg>acatg

595 (c.1784)

IVS16

(22)

Polymorphism

IVS16-49c>a

accgc>aacgc

595 (c.1785)

IVS16

(14)

Polymorphism

IVS16-47a>g

accgc>accac

595 (c.1785)

IVS16

(18)

(14)

(27)

OCA2

c.1835delA

CAA AAA AAG>C_A AAA AAG

612 (c.1835)

HGMD listed

(14) (25)

OCA1

Lys 614 Glu

AAG>GAG

614 (c.1840)

MnlI-

HGMD listed

Compond:

W679C

(24) (25)

OCA2

Lys 614 Asn

AAG>AAT

614 (c.1842)

HGMD listed

Patients: Tanzanian

(32)

OCA2

IVS17+1g-t

AAG gt>AAG tt

614 (c.1842)

IVS17

HGMD listed

(19)

Polymorphism

His 615 Arg

ag CAT>ag CGT

615 (c.1844)

rs1800414

Patients: Asian German

(18)

(34)

(38) (25)

OCA2

Ile 617 Leu

ATA>TTA

617 (c.1849)

HGMD listed

(24)

Polymorphism

Asp 619 Asp

GAC>GTC

619 (c.1856)

rs7164127

(5)

SNP

Asp 619 Asp

GAC>GAT

619 (c.1857)

rs7164217

Patients:

dbSNP

OCA2

Cys 626 Arg

TGC>CGC

626 (c.1876)

Compound:

N489D

Patients: Danish

(8)

Polymorphism

Val 629 Val

GTG>GTT

629 (c.1887)

rs1800415

(18)

(14)

OCA2

Ile 646 Val

ATT>GTT

646 (c.1936)

Patients: Northern Europe

(22)

OCA2

c.1939insC

ATT CAT>ATT CCA T

647 (c.1939)

Patients: Northern Europe

(22)

OCA2

IVS18+1g>a

CTT G gtgag>CTT G atgag

651 (c.1951)

IVS18

Patients: Northern Europe
Phillipines

(22)

Polymorphism

IVS18+24c>g

ttcat>ttgat

651 (c.1951)

IVS18

(14)

Polymorphism

IVS18-59delt

tgtta>tg_ta

651 (c.1951)

IVS18

Homozygous

(18)

(31)

Polymorphism

IVS18+45g>c

tggat>tgcat

651 (c.1951)

IVS18

rs66538504

(5)

OCA2

Trp 652 Arg

TGG>AGG

652 (c.1954)

HGMD listed

Typical
Homozygous
Compound:

R811S

(32)

OCA2

c.1960delG

ATT GCT>ATT _CT

654 (c.1960)

HGMD listed

(19)

OCA2

Glu 678 Lys

GAA>AAA

678 (c.2032)

HGMD listed

(24)

(14)

OCA2

Trp 679 Arg

TGG>CGG

679 (c.2035)

HGMD listed

Compound:

K614E
N489D
R305W

(17)

OCA2

Trp 679 Cys

TGG>TGC

679 (c.2037)

CfoI-

HGMD listed

(24) (25)

OCA2

c.2050insT

CTG TTT>CTGTTTT

683 (c.2050)

HGMD listed

(14)

OCA2

c.2050delT

CTG TTT>CTG _TT

684 (c.2050)

Patients: Northern Europe

(22)

Polymorphism

Ala 686 Ala

GCA>GCC

686 (c.2058)

rs1800416

(18)

(14)

OCA2

Ala 687 Val

GCG>GTG

687 (c.2060)

Compound:

2.7 kb del

Patients: Spain

(4)

OCA2

Leu 688 Phe

CTC>TTC

688 (c.2062)

HGMD listed

(14)

OCA2

c.2106delAinsTTC

ATA GAA TAT>ATA GAT TCT AT

702 (c.2106)

Compound:

A481T

Patients: France

(27)

(8)

Polymorphism

IVS21+22a>t

agaag>agtag

713 (c.2139)

IVS21

(18)

(14)

Polymorphism

IVS21+18a>g

taata>tagta

713 (c.2139)

IVS21

rs66538505

(18)

(14)

(34)

Polymorphism

IVS21+25c>g

aggca>agcca

713 (c.2139)

IVS21

(18)

(14)

(22)

Polymorphism

IVS21+8ins a

ataaa>ataaa a

713 (c.2139)

IVS21

(22)

OCA2

IVS21-2a>g

cag ATG>cgg ATG

714 (c.2140)

IVS21

HGMD listed

(32)

OCA2

Glu 718 ter

GAG>TAG

718 (c.2152)

Homozygous
Patients: German

(25)

OCA2

Arg 720 Cys

CGC>TGC

720 (c.2158)

HGMD listed

(24)

Polymorphism / OA

Ile 722 Thr

ATA>ACA

722 (c.2165)

rs1800417

Compound:

R419Q = OA

(18)

(14)

(11) (25)

OCA2

Ala 724 Pro

GCC>CCC

724 (c.2170)

HGMD listed

Compound:

G27R

Patients: 812

(21)

(32)

OCA2

c.2176delGTCCT

ATT GTC CTG GTG>ATT ___ __G GTG

726 (c.2176)

(23)

(32)

OCA2

Leu 727 Pro

CTG>TTG

727 (c.2180)

Compound:

N489D
T450K

Patients: Danish

(8)

(36)

OCA2

c.2181insG

CTG GTG>CTGGGTG

727 (c.2181)

HGMD listed

(14)

OCA2

Cys 430 ter

TGT>TGA

730 (c.1290)

Compound:

R455G

(36)

OCA2

Ser 732 Leu

TCA>TTA

732 (c.2195)

Compound:

c.898insG

Patients: Turkey

(27)

OCA2

Ser 736 Leu

TCG>TTG

736 (c.2207)

Typical
Compound:

G27R

(33)

(7)

Polymorphism

Ser 736 Ser

TCG>TCA

736 (c.2208)

rs1800418

(18)

(14)

SNP

Ile 737 Ser

TCC>ACC

737 (c.2209)

rs35039405

Patients:

dbSNP

Asn 741 Lys

AAC>AAA

741 (c.2223)

Compound:

V443I

Patients: German

(25)

OCA2

Pro 743 Arg

CCG>CGG

743 (c.2228)

Compound:

2.7 kb del

Patients: Spain

(27)

OCA2

Pro 743 Leu

CCG>CTG

743 (c.2228)

HGMD listed

Homozygous
Patients: Indian

(17)

(19)

(16)

(31)

SNP

Pro 743 Pro

CCG>CCA

743 (c.2229)

rs41301789

Patients:

dbSNP

SNP

Thr 745 Thr

ACT>ATT

745 (c.2234)

rs41301789

Patients:

dbSNP

Polymorphism

IVS22+18a>g

ccatg>ccgtg

748 (c.2244)

IVS22

rs41304383

Patients: Indian

(31)

Polymorphism

IVS22-94t>a

gctga>gcaga

749 (c.2245)

IVS22

(22)

OCA2

Ala 765 Thr

GCA>ACA

765 (c.2293)

Compound:

single

Patients: German

(25)

OCA2

Gly 775 Arg

GGT>CGT

775 (c.2323)

Patients: Chinese

(9)

OCA2

Gly 775 Ser

GGT>AGT

775 (c.2323)

Compound:

single

Patients: German

(25)

OCA2

Ala 776 Asp

GCT>GAT

776 (c.2327)

Compound:

K155N

(36)

Polymorphism

Ala 776 Ala

GCT>GCC

776 (c.2328)

rs1800419

(24)

(18)

(14)

(2)

(11)

(31)

OCA2

c.2334delG

CTG GGA>CT_ GGA

778 (c.2334)

HGMD listed

Compound:

N489D

(24)

(8)

Polymorphism

IVS23+37c>t

cacgc>catgc

780 (c.2338)

IVS23

(22)

Polymorphism

IVS23+75t>c

tacgt>gatgt

780 (c.2338)

IVS23

rs8025804

(2)

Polymorphism

Gly 780 Gly

tag GC>tag GT

780 (c.2340)

rs1800420

Not related to any variation in skin pigmentation

(18)

(14)

(12)

(30)

(1)

(11)

OCA2

Gly 782 Arg

GCT>GAT

782 (c.2344)

Compound:

c.980insT

(36)

OCA2

c.2351del26bp

ACA CTG ATT GGC GCG TCG GCA AAC GTC GTG TGT>ACA C__ ___ ___ ___ ___ ___ ___ ___ ___ TGT

784 (c.2351)

Compound:

c.860del24bp

(36)

OCA2

Ala 787 Thr

GCG>ACG

787 (c.2359)

Homozygous
Patients: Chinese
Indian

(9)

(31)

OCA2

Ala 787 Val

GCG>GTG

787 (c.2360)

HGMD listed

Compound:

G27R

Patients: 815

(21)

Polymorphism

Ser 788 Ser

TCG>TCA

788 (c.2364)

rs12592307

(24)

(18)

(14)

(12)

(30)

(34)

(31)

Polymorphism

Gln 789 Ala

GCA>CAA

789 (c.2365)

(22)

OCA2

c.2370delCGT

AAC GTC GTG>AA_ __C GTG

790 (c.2370)

Patients: Japanese

(10)

OCA2

c.2372delTC

AAC GTC GTG>AAC G__ GTG

791 (c.2372)

Patients: Ashkenazi Jews

(22)

Cys 793 Phe

TGT>TTT

793 (c.2378)

BsgI-

Compound:

V443I
N476S

Patients: German

(25)

OCA2

Gly 795 Arg

GGG>CGG

795 (c.2383)

HGMD listed

(24)

OCA2

Gln 799 His

CAG>CAC

799 (c.2397)

Patients: Japanese

(12)

Polymorphism

IVS24+21a>g

aaattt>aagtt

811 (c.2432)

IVS24

(22)

Polymorphism

IVS24+11g>c

cag GC>cac GC

811 (c.2432)

IVS24

(34)

OCA2

Arg 811 Ser

tcag G CTG>tcag T CTG

811 (c.2433)

Compound:

T652R

Patients: France

(27)

OCA2

IVS24-1g>c

cag GC>caa GC

811 (c.2433)

IVS24

Patients: Japanese

(34)

OCA2

Met 816 Lys

TGT>TTT

816 (c.2448)

Compound:

P211L

Patients: German

(25)

OCA2

Gly 824 Arg

TGT>TAT

824 (c.2477)

Homozygous
Patients: Indian

(31)

OCA2

Tyr 827 His

GCG>ACG

827 (c.2466)

Compound:

N476D

Patients: Chinese

(9)

c.2498delTGG

CAT GTG GTG>CAT G__ _TG

833 (c.2498)

HGMD listed

Compound:

163delG

(24)

SNP

Val 834 Met

GTG>ATG

834 (c.2500)

rs34704703

Patients:

dbSNP

c.2502delG

GTG GTG GTG>GTG GT_ GTG

834 (c.2502)

Compound:

I491T
R419Q
[V443I,M816K]

Patients: German

(25)

Polymorphism

2899tc

cttgt>ctcgt

837 (c.2899)

3'UTR

(23)

Polymorphism

2564a>g

tcaca>tcgca

838 (c.2564)

3'UTR

(22)

References:

Akey,J.M., Wang,H., Xiong,M., Wu,H., Liu,W., Shriver,M.D., and Jin,L. Interaction between the melanocortin-1 receptor and P genes contributes to inter-individual variation in skin pigmentation phenotypes in a Tibetan population. 2001; Hum.Genet. 108: 516-520.
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Aquaron,R., Soufir,N., Berge-Lefranc,J.L., Badens,C., Austerlitz,F., and Grandchamp,B. Oculocutaneous albinism type 2 (OCA2) with homozygous 2.7-kb deletion of the P gene and sickle cell disease in a Cameroonian family. Identification of a common TAG haplotype in the mutated P gene. 2007; J.Hum.Genet. 52: 771-780.
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Chiang,P.W., Fulton,A.B., Spector,E., and Hisama,F.M. Synergistic interaction of the OCA2 and OCA3 genes in a family. 2008; Am.J.Med.Genet.A. 146A: 2427-2430.
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Chiang,P.W., Spector,E., and Tsai,A.C. Evidence suggesting the inheritance mode of the human P gene in skin complexion is not strictly recessive. 2008; Am.J.Med.Genet.A. 146A: 1493-1496.
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Duffy,D.L., Montgomery,G.W., Chen,W., Zhao,Z.Z., Le,L., James,M.R., Hayward,N.K., Martin,N.G., and Sturm,R.A. A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation. 2007; Am.J.Hum.Genet. 80: 241-252.
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Durham-Pierre,D., Gardner,J.M., Nakatsu,Y., King,R.A., Francke,U., Ching,A., Aquaron,R., del,M., V, and Brilliant,M.H. African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism. 1994; Nat.Genet. 7: 176-179.
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Garrison,N.A., Yi,Z., Cohen-Barak,O., Huizing,M., Hartnell,L.M., Gahl,W.A., and Brilliant,M.H. P gene mutations in patients with oculocutaneous albinism and findings suggestive of Hermansky-Pudlak syndrome. 2004; J.Med.Genet. 41: e86
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Gronskov,K., Ek,J., Sand,A., Scheller,R., Bygum,A., Brixen,K., Brondum-Nielsen,K., and Rosenberg,T. Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism. 2009; Invest Ophthalmol Vis.Sci. 50: 1058-1064.
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Hongyi,L., Haiyun,W., Hui,Z., Qing,W., Honglei,D., Shu,M., and Weiying,J. Prenatal diagnosis of oculocutaneous albinism type II and novel mutations in two Chinese families. 2007; Prenat.Diagn. 27: 502-506.
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Jannot,A.S., Meziani,R., Bertrand,G., Gerard,B., Descamps,V., Archimbaud,A., Picard,C., Ollivaud,L., Basset-Seguin,N., Kerob,D., Lanternier,G., Lebbe,C., Saiag,P., Crickx,B., Clerget-Darpoux,F., Grandchamp,B., Soufir,N., and Melan,C. Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma. 2005; Eur.J.Hum.Genet. 13: 913-920.
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Kato,A., Fukai,K., Oiso,N., Hosomi,N., Saitoh,S., Wada,T., Shimizu,H., and Ishii,M. A novel P gene missense mutation in a Japanese patient with oculocutaneous albinism type II (OCA2). 2003; J.Dermatol.Sci. 31: 189-192.
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Kawai,M., Suzuki,T., Ito,S., Inagaki,K., Suzuki,N., and Tomita,Y. A patient with subclinical oculocutaneous albinism type 2 diagnosed on getting severely sunburned. 2005; Dermatology. 210: 322-323.
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Kerr,R., Stevens,G., Manga,P., Salm,S., John,P., Haw,T., and Ramsay,M. Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa. 2000; Hum.Mutat. 15: 166-172.
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King,R.A., Pietsch,J., Fryer,J.P., Savage,S., Brott,M.J., Russell-Eggitt,I., Summers,C.G., and Oetting,W.S. Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype. 2003; Hum.Genet. 113: 502-513.
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King,R.A., Willaert,R.K., Schmidt,R.M., Pietsch,J., Savage,S., Brott,M.J., Fryer,J.P., Summers,C.G., and Oetting,W.S. MC1R Mutations Modify the Classic Phenotype of Oculocutaneous Albinism Type 2 (OCA2). 2003; Am.J.Hum.Genet. 73: 638-645.
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Lee,S.T., Nicholls,R.D., Bundey,S., Laxova,R., Musarella,M., and Spritz,R.A. Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism. 1994; N.Engl.J.Med. 330: 529-534.
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Lee,S.T., Nicholls,R.D., Jong,M.T., Fukai,K., and Spritz,R.A. Organization and sequence of the human P gene and identification of a new family of transport proteins. 1995; Genomics. 26: 354-363.
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Lee,S.T., Nicholls,R.D., Schnur,R.E., Guida,L.C., Lu Kuo,J., Spinner,N.B., Zackai,E.H., and Spritz,R.A. Diverse mutations of the P gene among African-Americans with type II ( ) oculocutaneous albinism (OCA2). 1994; Hum.Mol.Genet. 3: 2047-2051.
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Manga,P., Kromberg,J.G., Turner,A., Jenkins,T., and Ramsay,M. In Southern Africa, Brown Oculocutaneous Albinism (BOCA) Maps to the OCA2 Locus on Chromosome 15q: P-Gene Mutations Identified. 2001; Am.J.Hum.Genet. 68: 782-787.
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Oetting,W.S., Gardner,J.M., Fryer,J.P., Ching,A., Durham Pierre,D., King,R.A., and Brilliant,M.H. Mutations of the human P gene associated with Type II oculocutaneous albinism (OCA2). 1998; Hum.Mutat. 12: 434
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Oetting,W.S., Garrett,S.S., Brott,M., and King,R.A. P gene mutations associated with oculocutaneous albinism type II (OCA2). 2005; Hum.Mutat. 25: 323
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Oetting,W.S. and King,R.A. Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism. 1999; Hum.Mutat. 13: 99-115.
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Passmore,L., Käsmann-Kellner,B., and Weber,B.H.F. Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population. 1999; Hum.Genet. 105: 200-210.
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Preising,M.N., Forster,H., and Lorenz,B. Mutations screening of TYR, OCA2, GPR143, and MC1R in Patients Identified by Congenital Nystagmus, Macular Hypoplasia and Hypopiogmentatof the Fundus; the Classical Features of Ocular and Oculocutaneous Albinism. 2010; submitted for publication.
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Rebbeck,T.R., Kanetsky,P.A., Walker,A.H., Holmes,R., Halpern,A.C., Schuchter,L.M., Elder,D.E., and Guerry,D. P gene as an inherited biomarker of human eye color. 2002; Cancer Epidemiol.Biomarkers Prev. 11: 782-784.
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Rooryck,C., Morice-Picard,F., Elcioglu,N.H., Lacombe,D., Taieb,A., and Arveiler,B. Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects. 2008; Pigment Cell Melanoma Res. 21: 583-587.
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Rosenmann,A., Bejarano-Achache,I., Eli,D., Maftsir,G., Mizrahi-Meissonnier,L., and Blumenfeld,A. Prenatal molecular diagnosis of oculocutaneous albinism (OCA) in a large cohort of Israeli families. 2009; Prenat.Diagn. 29: 939-946.
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Saadeh,R., Lisi,E.C., Batista,D.A., McIntosh,I., and Hoover-Fong,J.E. Albinism and developmental delay: the need to test for 15q11-q13 deletion. 2007; Pediatr.Neurol. 37: 299-302.
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Saitoh,S., Oiso,N., Wada,T., Narazaki,O., and Fukai,K. Oculocutaneous albinism type 2 with a P gene missense mutation in a patient with Angelman syndrome. 2000; J.Med.Genet. 37: 392-394.
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Sengupta,M., Mondal,M., Jaiswal,P., Sinha,S., Chaki,M., Samanta,S., and Ray,K. Comprehensive Analysis of the Molecular Basis of OCA in Indian Patients Lacking Mutation in Tyrosinase Gene. 2010; Br.J.Dermatol.
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Spritz,R.A., Fukai,K., Holmes,S.A., and Luande,J. Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2). 1995; Am.J.Hum.Genet. 56: 1320-1323.
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Spritz,R.A., Lee,S.T., Fukai,K., Brondum Nielsen,K., Chitayat,D., Lipson,M.H., Musarella,M.A., Rosenmann,A., and Weleber,R.G. Novel mutations of the P gene in type II oculocutaneous albinism (OCA2). 1997; Hum.Mutat. 10: 175-177.
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Suzuki,T., Miyamura,Y., Matsunaga,J., Shimizu,H., Kawachi,Y., Ohyama,N., Ishikawa,O., Ishikawa,T., Terao,H., and Tomita,Y. Six novel P gene mutations and oculocutaneous albinism type 2 frequency in Japanese albino patients. 2003; J Invest Dermatol. 120: 781-783.
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Suzuki,T., Miyamura,Y., and Tomita,Y. High frequency of the Ala481Thr mutation of the P gene in the Japanese population. 2003; Am J Med Genet A. 118: 402-403.
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Wei,A., Wang,Y., Long,Y., Wang,Y., Guo,X., Zhou,Z., Zhu,W., Liu,J., Bian,X., Lian,S., and Li,W. A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism. 2010; J.Invest Dermatol. 130: 716-724.
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Yi,Z., Garrison,N., Cohen-Barak,O., Karafet,T.M., King,R.A., Erickson,R.P., Hammer,M.F., and Brilliant,M.H. A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population. 2003; Am.J.Hum.Genet. 72: 62-72.
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Yuasa,I., Umetsu,K., Harihara,S., Kido,A., Miyoshi,A., Saitou,N., Dashnyam,B., Jin,F., Lucotte,G., Chattopadhyay,P.K., Henke,L., and Henke,J. Distribution of two Asian-related coding SNPs in the MC1R and OCA2 genes. 2007; Biochem.Genet. 45: 535-542.
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