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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

doublehelixThe 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.
P-protein schematic
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
Link(34)
Polymorphism Ala 16 Ala GCG>GCA 016 (c.0048) 01



Link(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
Link(33)
Link(7)
Link(22)
Link(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
Link(8)
OCA2 c.158delG AGG GGG GCT>A_G GGG GCT 053 (c.0158) 01

HGMD listed



Compound:
  • V833del

Link(24)
OCA2 c.168delC GCT GCC GGG>GCT GC_ GGG 056 (c.0168) 02


Compound:
  • R243C

Link(36)
OCA2 Trp 61 ter TGG>TAG 061 (c.0182) 01


Compound:
  • IVS15-19a>g

Patients: Netherlands
Link(27)
OCA2 Ser 86 Arg AGC>AGG 086 (c.0258) 03

HGMD listed



Compound:
  • single

Patients: 172
Link(21)
OCA2 Glu 96 Ala GAA>GCA 096 (c.0287) 03


homozygous
Patients: Danish
Link(8)
Polymorphism IVS3+42g>t gagca>gatca 109 (c.0326) IVS03




Patients: Caucasian, African American
Link(21)
OCA2 IVS3-n_IVS20+n gross deletion 109 (c.0327) IVS3


Homozygous
Compound:
  • A334V

Patients: Spain
Poland
Link(27)
OCA2 Cys 112 Phe TGC>TTC 112 (c.0335) 04

HGMD listed



Compound:
  • single

Patients: 530
Link(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

Link(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

Link(36)
OCA2 c.482delG AGC CCG>A_C CCG 161 (c.0482) 04


Typical
Compound:
  • single

Link(33)
Link(8)
Polymorphism IVS4-53t>a gtctg>gtcag 172 (c.0516) IVS04




Patients: Caucasian
Link(21)
Polymorphism IVS5-39t>c catac>cacac 192 (c.0574) IVS05




Link(14)
OCA2 IVS5-19a>g caacg>cagcg 192 (c.0574) IVS05

HGMD listed



Compound:
  • IVS3-n_IVS20+n
  • R419Q

Patients: Tanzanian
Spain
Link(32)
Link(15) (25)
Polymorphism IVS5-18c>t aacgt>aatgt 192 (c.0574) IVS05




Link(18)
Polymorphism IVS5-53c>g tacct>tagct 192 (c.0574) IVS05




Link(5)
OCA2 Pro 198 Leu CCG>TCG 198 (c.0592) 06


Homozygous
Compound:
  • Single

Patients: Japanese
Link(34)
Link(36)
OCA2 Trp 204 ter TGG>TGA 204 (c.0612) 06




Patients: Northern Europe
Link(22)
OCA2 c.615del18bp CAG CTG TTG GCC TTA TCA CCG>CA_ ___ ___ ___ ___ ___ __G 205 (c.0615) 06

HGMD listed





Link(17)
Link(15)
OCA2 Pro 211 Leu CCG>TCG 211 (c.0631) 06


Compound:
  • V443I
  • IVS24-1g>c

Patients: Japanese
Link(34)
Link(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
Link(6)
Link(24)
Link(20)
Link(2)
Link(29)
Link(27)
SNP Pro 241 Arg CCG>CGG 241 (c.0722) 07

rs2305253




Patients:
Link(5)
OCA2 Arg 243 Cys CGT>TGT 243 (c.0727) 07


Compound:
  • c.168delC
  • single

Link(36)
OCA2 His 249 Asp CAC>CAG 249 (c.0747) 07



Compound:
  • 2.7 kb del

Patients: Cameroon
Link(27)
Polymorphism Asp 257 Ala GAT>GCT 257 (c.0770) 07

rs1050968




Patients: Caucasian
African American
Asian
German
Link(21) (25)
SNP Arg 266 Trp CGG>TGG 266 (c.0796) 07

rs33929465




Patients:
Link(31)
Polymorphism IVS7+23a>t gaaag>gatag 269 (c.0807) IVS07




Link(18)
Polymorphism IVS7+25g>c gaaag>gaaac 269 (c.0807) IVS07




Patients: Caucasian, African American
Link(21)
Polymorphism IVS7-3c>g tacag>tagag 270 (c.0808) IVS07




Link(3)
OCA2 c.819invCTGG AAC TGG ACG>AAG GTC ACG 273 (c.0819) 08



Compound:
  • T450M

Patients: Africa
Link(27) Link(4)
OCA2 Asn 273 Lys AAC>AAG 273 (c.0819) 08


Compound:
  • W274V

Link(17)
Link(15)
Link(7) (25)
OCA2 Trp 274 Val TGG>GTC 274 (c.0822) 08


Compound:
  • N273K

Link(17)
Link(15)
Link(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

Link(36)
OCA2 / OA Arg 290 Gly AGG>GGG 290 (c.0868) 08 AciI+

HGMD listed



Homozygous
Compound:
  • V443I

Link(24)
Link(15) (25)
Polymorphism IVS8-53g>t gaggt>gatgt 297 (c.0891) IVS8




Link(22)
OCA2 c.897insG ACG GTG>ACGGGTG 300 (c.0897) 10



Compound:
  • S732L

Patients: Turkey
Link(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

Link(24)
Link(18)
Link(11)
Link(26)
Link(14)
Link(2) (25)
Link(31)
Polymorphism Leu 308 Leu CTG>TTG 308 (c.0922) 09

rs1800402




Patients: Caucasian
Link(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

Link(36)
Polymorphism Gln 321 Gln CAG>CAA 321 (c.0963) 09




Link(14)
OCA2 c.980insT AGT GTA GAA >AGT GTT AGA A 325 (c.0980) 09


Compound:
  • G782R

Link(36)
OCA2 Ala 334 Val GCG>GTG 334 (c.1001) 09

HGMD listed

rs34010619


Compound:
  • IVS3-n_IVS20+n

Patients: Spain
Link(14)
Link(27)
Polymorphism Ala 336 Ala GCC>GTC 336 (c.1007) 09




Link(14)
OCA2 Tyr 342 Cys TAC>TGC 342 (c.1025) 09


Compound:
  • single

Patients: Danish
Link(8)
Polymorphism Tyr 342 Tyr TAC>TAT 342 (c.1026) 09

rs1800403




Link(18)
Link(14)
OCA2 c.1045delAT ccag __C>ccag ATC 349 (c.1045) 10




Patients: Caucasian
Link(22)
OCA2 IVS9-2a>g tccag ATC>tccgg ATC 349 (c.1045) IVS09


Homozygous
Patients: Indian
Link(31)
OCA2 IVS9-1363del6592bp Deletion of Exon 10 - 20 349 (c.1045) IVS09




Patients: Japanese
Link(37)
OCA2 c.1047del7bp ATC GTG CAC AGA>AT_ ___ ___ AGA 349 (c.1047) 10

HGMD listed



Compound:
  • Del exon 7

Patients: 733
Link(21)
OCA2 Val 350 Met GTG>ATG 350 (c.1048) 10

HGMD listed





Link(14)
Polymorphism Ala 355 Ala GCG>GCA 355 (c.1065) 10

rs1800404




Link(24)
Link(18)
Link(14)
Link(31)
Polymorphism Ser 360 Ser TCC>TCT 360 (c.1080) 10




Link(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
Link(21)
OCA2 Ile 370 Thr ATT>ACT 370 (c.1109) 10

HGMD listed

rs34731820




Link(14)
OCA / Polymorphism Gly 371 Gly GGC>GGG 371 (c.1113) 10

rs1800405


Homozygous
Compound:
  • R419Q = OCA
  • in cis G775S

Link(18)
(25)
OCA2 IVS10+6t>c agttg>agctg 372 (c.1116) IVS10 HpnI+

HGMD listed

rs34010619


Compound:
  • V443I

Patients: France
(25)
Link(27)
Polymorphism Leu 376 Leu CTG>CTT 376 (c.1128) 11

rs1800406




Patients: Caucasian, African American, Asian
Link(21)
SNP Val 380 Met GTG>ATG 380 (c.1138) 11

rs41529845




Patients:
Link(5)
OCA2 Phe 385 Ile TTT>ATT 385 (c.1153) 11

HGMD listed





Link(17)
Polymorphism Thr 387 Met ACG>ATG 387 (c.1160) 11




Patients: Japanese
Link(34)
Polymorphism IVS11-4a>g ccata>ccgta 393 (c.1183) IVS11

rs10852218




Patients: Indian
Link(24)
Link(18)
Link(14)
Link(30)
Link(12)
Link(31)
OCA2 Met 394 Ile ATG>ATA 394 (c.1182) 11


Compound:
  • single
  • A481T

Patients: Japanese
Link(34)
Link(13)
Polymorphism IVS11+19g>a ccgtg>ccatg 394 (c.1182) IVS11




Link(34)
Link(14)
OCA2 Met 395 Leu ATG>CTG 395 (c.1183) 12

HGMD listed



Splice defect?
Link(17)
Unclassified Glu 403 Gly GAA>GGA 403 (c.1208) 12




Patients: Indian
Link(31)
OCA2 Leu 404 Met ACG>ATG 404 (c.1211) 12


Compound:
  • single

Link(23)
Link(8)
OCA2 IVS12+5g>a AAG gtagg tat>AAG gtaga tat 413 (c.1239) IVS12




Patients: African-American West Indian Puerto Rican
Link(15)
OCA2 Tyr 415 His TAC>CAC 415 (c.1243) 13


homozygous
Patients: Danish
Link(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

Link(33) (25)
Polymorphism Arg 419 Gln CGG>CAG 419 (c.1256) 13 MspI-, SmaI-

rs1800407




Link(24)
Link(5)
Link(18)
Link(26)
Link(11)
OCA2 c.1273delATG GCC ATG ATC>GCC ___ ATC 425 (c.1273) 13

HGMD listed





Link(17)
Polymorphism Leu 440 Phe TTG>TTC 440 (c.1320) 13

rs1800408




Link(18)
Link(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

Link(19)
Link(24)
Link(17)
Link(15)
Link(16)
Link(22)
Link(9)
Link(8)
OA Met 446 Val ATG>GTG 446 (c.1336) 13

HGMD listed



Typical
Compound:
  • single

Link(33)
OCA2 Thr 450 Lys ACG>AAG 450 (c.1349) 13


Compound:
  • L727P

Link(36)
OCA2 Thr 450 Met ACG>ATG 450 (c.1349) 13 HpnI+

HGMD listed

rs34010619


Compound:
  • c.819invCTGG

Patients: Africa
Link(27)
OCA2 Arg 455 Gly AGG>GGG 455 (c.1363) 13


Compound:
  • C430X
  • single

Link(36)
Polymorphism IVS13+4c>a gtacg>gtaag 455 (c.1364) IVS13




Link(18)
Link(14)
Polymorphism IVS13+180c>t tttgt>ttcgt 455 (c.1364) IVS13

rs1800401




Link(11)
Polymorphism IVS13+26a>g agttg>ggttg 455 (c.1364) IVS13

rs1800410




Patients: Indian
Link(18)
Link(14)
Link(2)
Link(31)
Polymorphism IVS13+25a>g gggag>ggggg 455 (c.1364) IVS13




Link(11)
Polymorphism IVS13+122a>g aaaag>aagag 455 (c.1364) IVS13

rs1800401




Link(11)
Link(2)
Polymorphism IVS13-15t>c cttcc>cctcc 455 (c.1365) IVS13


Not involved in variations of skin pigmentation
Patients: Tibetian
Link(24)
Link(1)
Link(18)
Link(14)
Link(13)
Link(11)
Polymorphism IVS13-11a>t ccatt>ccttt 455 (c.1365) IVS13




Patients: Caucasian
Link(21)
Link(14)
Polymorphism Glu 458 Glu GAG>GAA 458 (c.1374) 14




Link(18)
OCA2 Ile 473 Ser ATC>AGC 473 (c.1418) 14

HGMD listed



Typical
Compound:
  • R419W

Link(19)
Link(33)
OCA2 Asn 476 Asp AAC>GAC 476 (c.1426) 14


Compound
  • Y827H

Patients: Chinese
Link(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
Link(19)
Link(34)
Link(12)
Link(33)
Link(35)
Link(27)
Link(8)
Link(13)
Preising 2010
OCA2 Gly 485 Val GGG>GTG 485 (c.1454) 14


Compound:
  • N489D
  • c.647insC

Patients: France
Denmark
Link(27)
Link(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

Link(33)
Link(15)
Link(16)
Link(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




Link(14)
Link(22)
OCA2 IVS14-2a>g ccagg>ccggg 502 (c.1504) IVS14

HGMD listed





Link(14)
Polymorphism Cys 517 Cys TGC>TGT 517 (c.1551) 15

rs1800411




Link(18)
Link(14)
Link(24)
Link(34)
Link(31)
OCA2 c.1555delG CTT GTT>CTT_TT 519 (c.1555) 15

HGMD listed





Patients: Mexican
Link(22)
OCA2 Val 519 Ala GTT>GCT 519 (c.1556) 15

rs41446944


Compound:
  • single

Patients: Japanese
Danish
Link(5)
Link(15)
Link(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
Link(22)
Link(34)
Polymorphism IVS15+78c>t attag>atcag 546 (c.1636) IVS16




Link(5)
OCA2 His 549 Gln CAC>CAA 549 (c.1647) 16

HGMD listed





Link(23)
OCA2 Arg 555 Cys CGC>TGC 555 (c.1663) 16


Compound:
  • single

Link(36)
OCA2 Ala 558 Pro GCT>CCT 558 (c.1672) 16


Homozygous
Patients: France
Link(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
Link(31)
OCA2 c.1757delT caacg>cagcg 586 (c.1757) 16




Patients: Northern European
Link(16)
Polymorphism His 591 His CAC>CAT 591 (c.1773) 16

rs1800412




Patients: Caucasian, African American
Link(21)
OCA2 Thr 592 Ile ACC>ATC 592 (c.1775) 16

HGMD listed

rs1800413


Compound:
  • single

Patients: 688
Link(21)
Polymorphism IVS16+71g>a gcgac>gcaac 595 (c.1784) IVS16




Link(22)
OCA2 IVS16+2t>c AGgta>Aggca 595 (c.1784) IVS16

HGMD listed



Compound:
  • V443I

Link(24)
Polymorphism IVS16+93a>g acgtg>acatg 595 (c.1784) IVS16




Link(22)
Polymorphism IVS16-49c>a accgc>aacgc 595 (c.1785) IVS16




Link(14)
Polymorphism IVS16-47a>g accgc>accac 595 (c.1785) IVS16




Link(18)
Link(14)
Link(27)
OCA2 c.1835delA CAA AAA AAG>C_A AAA AAG 612 (c.1835) 17

HGMD listed





Link(14) (25)
OCA1 Lys 614 Glu AAG>GAG 614 (c.1840) 17 MnlI-

HGMD listed



Compond:
  • W679C

Link(24) (25)
OCA2 Lys 614 Asn AAG>AAT 614 (c.1842) 17

HGMD listed





Patients: Tanzanian
Link(32)
OCA2 IVS17+1g-t AAG gt>AAG tt 614 (c.1842) IVS17

HGMD listed





Link(19)
Polymorphism His 615 Arg ag CAT>ag CGT 615 (c.1844) 18

rs1800414




Patients: Asian German
Link(18)
Link(34)
Link(38) (25)
OCA2 Ile 617 Leu ATA>TTA 617 (c.1849) 18

HGMD listed





Link(24)
Polymorphism Asp 619 Asp GAC>GTC 619 (c.1856) 18

rs7164127




Link(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
Link(8)
Polymorphism Val 629 Val GTG>GTT 629 (c.1887) 18

rs1800415




Link(18)
Link(14)
OCA2 Ile 646 Val ATT>GTT 646 (c.1936) 18




Patients: Northern Europe
Link(22)
OCA2 c.1939insC ATT CAT>ATT CCA T 647 (c.1939) 18




Patients: Northern Europe
Link(22)
OCA2 IVS18+1g>a CTT G gtgag>CTT G atgag 651 (c.1951) IVS18




Patients: Northern Europe
Phillipines
Link(22)
Polymorphism IVS18+24c>g ttcat>ttgat 651 (c.1951) IVS18




Link(14)
Polymorphism IVS18-59delt tgtta>tg_ta 651 (c.1951) IVS18


Homozygous
Link(18)
Link(31)
Polymorphism IVS18+45g>c tggat>tgcat 651 (c.1951) IVS18

rs66538504




Link(5)
OCA2 Trp 652 Arg TGG>AGG 652 (c.1954) 20

HGMD listed



Typical
Homozygous
Compound:
  • R811S

Link(32)
OCA2 c.1960delG ATT GCT>ATT _CT 654 (c.1960) 20

HGMD listed





Link(19)
OCA2 Glu 678 Lys GAA>AAA 678 (c.2032) 20

HGMD listed





Link(24)
Link(14)
OCA2 Trp 679 Arg TGG>CGG 679 (c.2035) 20

HGMD listed




Compound:
  • K614E
  • N489D
  • R305W

Link(17)
OCA2 Trp 679 Cys TGG>TGC 679 (c.2037) 20 CfoI-

HGMD listed





Link(24) (25)
OCA2 c.2050insT CTG TTT>CTGTTTT 683 (c.2050) 20

HGMD listed





Link(14)
OCA2 c.2050delT CTG TTT>CTG _TT 684 (c.2050) 20




Patients: Northern Europe
Link(22)
Polymorphism Ala 686 Ala GCA>GCC 686 (c.2058) 20

rs1800416




Link(18)
Link(14)
OCA2 Ala 687 Val GCG>GTG 687 (c.2060) 20



Compound:
  • 2.7 kb del

Patients: Spain
Link(4)
OCA2 Leu 688 Phe CTC>TTC 688 (c.2062) 20

HGMD listed





Link(14)
OCA2 c.2106delAinsTTC ATA GAA TAT>ATA GAT TCT AT 702 (c.2106) 21


Compound:
  • A481T

Patients: France
Link(27)
Link(8)
Polymorphism IVS21+22a>t agaag>agtag 713 (c.2139) IVS21




Link(18)
Link(14)
Polymorphism IVS21+18a>g taata>tagta 713 (c.2139) IVS21

rs66538505




Link(18)
Link(14)
Link(34)
Polymorphism IVS21+25c>g aggca>agcca 713 (c.2139) IVS21




Link(18)
Link(14)
Link(22)
Polymorphism IVS21+8ins a ataaa>ataaa a 713 (c.2139) IVS21




Link(22)
OCA2 IVS21-2a>g cag ATG>cgg ATG 714 (c.2140) IVS21

HGMD listed





Link(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





Link(24)
Polymorphism / OA Ile 722 Thr ATA>ACA 722 (c.2165) 22

rs1800417



Compound:
  • R419Q = OA

Link(18)
Link(14)
Link(11) (25)
OCA2 Ala 724 Pro GCC>CCC 724 (c.2170) 21

HGMD listed



Compound:
  • G27R

Patients: 812
Link(21)
Link(32)
OCA2 c.2176delGTCCT ATT GTC CTG GTG>ATT ___ __G GTG 726 (c.2176) 22




Link(23)
Link(32)
OCA2 Leu 727 Pro CTG>TTG 727 (c.2180) 22


Compound:
  • N489D
  • T450K

Patients: Danish
Link(8)
Link(36)
OCA2 c.2181insG CTG GTG>CTGGGTG 727 (c.2181) 22

HGMD listed





Link(14)
OCA2 Cys 430 ter TGT>TGA 730 (c.1290) 24


Compound:
  • R455G

Link(36)
OCA2 Ser 732 Leu TCA>TTA 732 (c.2195) 22



Compound:
  • c.898insG

Patients: Turkey
Link(27)
OCA2 Ser 736 Leu TCG>TTG 736 (c.2207) 22


Typical
Compound:
  • G27R

Link(33)
Link(7)
Polymorphism Ser 736 Ser TCG>TCA 736 (c.2208) 22

rs1800418




Link(18)
Link(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
Link(27)
OCA2 Pro 743 Leu CCG>CTG 743 (c.2228) 22

HGMD listed



Homozygous
Patients: Indian
Link(17)
Link(19)
Link(16)
Link(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
Link(31)
Polymorphism IVS22-94t>a gctga>gcaga 749 (c.2245) IVS22




Link(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
Link(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

Link(36)
Polymorphism Ala 776 Ala GCT>GCC 776 (c.2328) 23

rs1800419




Link(24)
Link(18)
Link(14)
Link(2)
Link(11)
Link(31)
OCA2 c.2334delG CTG GGA>CT_ GGA 778 (c.2334) 23

HGMD listed



Compound:
  • N489D

Link(24)
Link(8)
Polymorphism IVS23+37c>t cacgc>catgc 780 (c.2338) IVS23




Link(22)
Polymorphism IVS23+75t>c tacgt>gatgt 780 (c.2338) IVS23

rs8025804




Link(2)
Polymorphism Gly 780 Gly tag GC>tag GT 780 (c.2340) 24

rs1800420


Not related to any variation in skin pigmentation
Link(18)
Link(14)
Link(12)
Link(30)
Link(1)
Link(11)
OCA2 Gly 782 Arg GCT>GAT 782 (c.2344) 24


Compound:
  • c.980insT

Link(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

Link(36)
OCA2 Ala 787 Thr GCG>ACG 787 (c.2359) 24


Homozygous
Patients: Chinese
Indian
Link(9)
Link(31)
OCA2 Ala 787 Val GCG>GTG 787 (c.2360) 24

HGMD listed



Compound:
  • G27R

Patients: 815
Link(21)
Polymorphism Ser 788 Ser TCG>TCA 788 (c.2364) 24

rs12592307




Link(24)
Link(18)
Link(14)
Link(12)
Link(30)
Link(34)
Link(31)
Polymorphism Gln 789 Ala GCA>CAA 789 (c.2365) 24




Link(22)
OCA2 c.2370delCGT AAC GTC GTG>AA_ __C GTG 790 (c.2370) 24




Patients: Japanese
Link(10)
OCA2 c.2372delTC AAC GTC GTG>AAC G__ GTG 791 (c.2372) 24




Patients: Ashkenazi Jews
Link(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





Link(24)
OCA2 Gln 799 His CAG>CAC 799 (c.2397) 24




Patients: Japanese
Link(12)
Polymorphism IVS24+21a>g aaattt>aagtt 811 (c.2432) IVS24




Link(22)
Polymorphism IVS24+11g>c cag GC>cac GC 811 (c.2432) IVS24




Link(34)
OCA2 Arg 811 Ser tcag G CTG>tcag T CTG 811 (c.2433) 25



Compound:
  • T652R

Patients: France
Link(27)
OCA2 IVS24-1g>c cag GC>caa GC 811 (c.2433) IVS24




Patients: Japanese
Link(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
Link(31)
OCA2 Tyr 827 His GCG>ACG 827 (c.2466) 24


Compound:
  • N476D

Patients: Chinese
Link(9)
OA c.2498delTGG CAT GTG GTG>CAT G__ _TG 833 (c.2498) 25

HGMD listed



Compound:
  • 163delG

Link(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




Link(23)
Polymorphism 2564a>g tcaca>tcgca 838 (c.2564) 3'UTR




Link(22)
     

References:

  1. 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.
    Link Goto Top
  2. 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.
    Link Goto Top
  3. 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.
    Link Goto Top
  4. 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.
    Link Goto Top
  5. 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.
    Link Goto Top
  6. 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.
    Link Goto Top
  7. 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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  8. 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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  9. 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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  10. 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.
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  11. 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.
    Link Goto Top
  12. 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.
    Link Goto Top
  13. 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.
    Link Goto Top
  14. 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.
    Link Goto Top
  15. 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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  16. 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.
    Link Goto Top
  17. 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.
    Link Goto Top
  18. 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.
    Link Goto Top
  19. 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.
    Link Goto Top
  20. 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.
    Link Goto Top
  21. 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
    Link Goto Top
  22. 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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  23. 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.
    Link Goto Top
  24. 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.
    Link Goto Top
  25. 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

  26. 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.
    Link Goto Top
  27. 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.
    Link Goto Top
  28. 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.
    Link Goto Top
  29. 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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  30. 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.
    Link Goto Top
  31. 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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  32. 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.
    Link Goto Top
  33. 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.
    Link Goto Top
  34. 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.
    Link Goto Top
  35. 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.
    Link Goto Top
  36. 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.
    Link Goto Top
  37. 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.
    Link Goto Top
  38. 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.
    Link Goto Top
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