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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
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

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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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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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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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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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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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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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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