PMID: 18463683

Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type.

The Journal of investigative dermatology
SM Hutton, RA Spritz
2008-10

88 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
5-33944844-G-T SLC45A2 c.1502C>A p.Ala501Asp Missense 7/7 -
11-88911146-CC-C TYR c.25delC p.Leu9Cysfs*22 Frameshift 1/5 -
11-88911122-A-G TYR c.1A>G p.Met1Val Missense 1/5 -
11-88911575-C-T TYR c.454C>T p.Pro152Ser Missense 1/5 -
15-28196929-C-T OCA2 c.1951+1G>A - IntronicSNV - 18/23
22-26859942-C-T HPS4 c.1654G>A p.Val552Met Missense 11/14 -
11-88911567-A-G TYR c.446A>G p.Tyr149Cys Missense 1/5 -
11-89017961-G-A TYR c.1205G>A p.Arg402Gln Missense 4/5 -
22-26862194-T-C HPS4 c.704A>G p.His235Arg Missense 9/14 -
11-88961101-G-A TYR c.1147G>A p.Asp383Asn Missense 3/5 -
11-88911285-G-A TYR c.164G>A p.Cys55Tyr Missense 1/5 -
11-88961122-C-G TYR c.1168C>G p.His390Asp Missense 3/5 -
11-88911359-T-C TYR c.238T>C p.Trp80Arg Missense 1/5 -
22-26853905-C-A HPS4 c.1875G>T p.Gln625His Missense 13/14 -
11-88911467-C-T TYR c.346C>T p.Arg116* Nonsense 1/5 -
11-89017965-G-T TYR c.1209G>T p.Arg403Ser Missense 4/5 -
15-28260053-G-A OCA2 c.913C>T p.Arg305Trp Missense 9/24 -
5-33954494-A-C SLC45A2 c.1004T>G p.Met335Arg Missense 4/7 -
11-88911726-A-G TYR c.605A>G p.His202Arg Missense 1/5 -
11-88911771-G-A TYR c.650G>A p.Arg217Gln Missense 1/5 -
11-88911734-C-A TYR c.613C>A p.Pro205Thr Missense 1/5 -
11-88924446-G-A TYR c.896G>A p.Arg299His Missense 2/5 -
11-89018011-G-A TYR c.1255G>A p.Gly419Arg Missense 4/5 -
5-33984409-G-C SLC45A2 c.280C>G p.His94Asp Missense 1/7 -
11-89017973-C-T TYR c.1217C>T p.Pro406Leu Missense 4/5 -
15-28228529-T-C OCA2 c.1465A>G p.Asn489Asp Missense 14/24 -
15-28230254-C-G OCA2 c.1320G>C p.Leu440Phe Missense 13/24 -
11-88911261-G-A TYR c.140G>A p.Gly47Asp Missense 1/5 -
11-88911363-C-T TYR c.242C>T p.Pro81Leu Missense 1/5 -
5-33982476-T-G SLC45A2 c.427A>C p.Ser143Arg Missense 2/7 -
11-88961017-G-C TYR c.1063G>C p.Ala355Pro Missense 3/5 -
11-88911371-T-G TYR c.250T>G p.Phe84Val Missense 1/5 -
5-33984559-C-T SLC45A2 c.130G>A p.Gly44Arg Missense 1/7 -
11-88961029-C-T TYR c.1075C>T p.Gln359* Nonsense 3/5 -
15-28230318-C-T OCA2 c.1256G>A p.Arg419Gln Missense 13/24 -
15-28326942-C-T OCA2 c.79G>A p.Gly27Arg Missense 2/24 -
11-88911350-C-T TYR c.229C>T p.Arg77Trp Missense 1/5 -
15-28116316-G-A OCA2 c.2228C>T p.Pro743Leu Missense 21/24 -
11-88911245-GG-G TYR c.124delG p.Asp42Thrfs*78 Frameshift 1/5 -
11-89017960-C-T TYR c.1204C>T p.Arg402* Nonsense 4/5 -
11-88911770-C-G TYR c.649C>G p.Arg217Gly Missense 1/5 -
11-88924414-A-T TYR c.864A>T p.Leu288Phe Missense 2/5 -
15-28116337-G-A OCA2 c.2207C>T p.Ser736Leu Missense 21/24 -
15-28326891-C-T OCA2 c.130G>A p.Gly44Arg Missense 2/24 -
11-88911353-G-T TYR c.232G>T p.Glu78* Nonsense 1/5 -
11-88911747-C-T TYR c.626C>T p.Pro209Leu Missense 1/5 -
11-88924430-G-A TYR c.880G>A p.Glu294Lys Missense 2/5 -
15-28200303-C-A OCA2 c.1842+1G>T - IntronicSNV - 17/23
11-89018126-A-G TYR c.1366+4A>G - IntronicSNV - 4/4
11-88924373-G-T TYR c.823G>T p.Val275Phe Missense 2/5 -
11-88961118-TT-T TYR c.1164delT p.His389Thrfs*96 Frameshift 3/5 -
11-88961086-C-T TYR c.1132C>T p.Gln378* Nonsense 3/5 -
22-26860269-G-C HPS4 c.1327C>G p.Leu443Val Missense 11/14 -
11-89028445-C-CC TYR c.1501dupC p.Arg501Profs*9 Frameshift 5/5 -
11-88911770-GC-G TYR c.649delC p.Arg217Glyfs*9 Frameshift 1/5 -
5-33984388-G-A SLC45A2 c.301C>T p.Arg101Cys Missense 1/7 -
11-89018021-G-A TYR c.1265G>A p.Arg422Gln Missense 4/5 -
11-88961100-C-A TYR c.1146C>A p.Asn382Lys Missense 3/5 -
11-89028411-T-TT TYR c.1467_1467dupT p.Ala490Cysfs*20 Frameshift 5/5 -
11-88961072-C-A TYR c.1118C>A p.Thr373Lys Missense 3/5 -
11-88911663-A-G TYR c.542A>G p.Tyr181Cys Missense 1/5 -
15-28228553-C-T OCA2 c.1441G>A p.Ala481Thr Missense 14/24 -
11-89018098-G-A TYR c.1342G>A p.Asp448Asn Missense 4/5 -
11-88911489-T-C TYR c.368T>C p.Ile123Thr Missense 1/5 -
11-89018047-C-A TYR c.1291C>A p.Pro431Thr Missense 4/5 -
15-28196980-A-T OCA2 c.1901T>A p.Ile634Asn Missense 18/24 -
5-33964091-C-T SLC45A2 c.593G>A p.Gly198Asp Missense 3/7 -
15-28263554-G-A OCA2 c.796C>T p.Arg266Trp Missense 7/24 -
11-88961092-T-C TYR c.1138T>C p.Ser380Pro Missense 3/5 -
11-88924523-A-G TYR c.973A>G p.Thr325Ala Missense 2/5 -
11-89018092-G-A TYR c.1336G>A p.Gly446Ser Missense 4/5 -
11-88911182-C-T TYR c.61C>T p.Pro21Ser Missense 1/5 -
5-33982474-A-T SLC45A2 c.429T>A p.Ser143Arg Missense 2/7 -
5-33963850-G-C SLC45A2 c.834C>G p.Tyr278* Nonsense 3/7 -
9-12694274-G-A TYRP1 c.278G>A p.Arg93His Missense 2/8 -
11-88911737-G-A TYR c.616G>A p.Ala206Thr Missense 1/5 -
11-88961138-G-A TYR c.1184G>A p.Ser395Asn Missense 3/5 -
9-12694066-G-A TYRP1 c.70G>A p.Ala24Thr Missense 2/8 -
15-28230247-C-T OCA2 c.1327G>A p.Val443Ile Missense 13/24 -
5-33984391-C-T SLC45A2 c.298G>A p.Gly100Ser Missense 1/7 -
22-26862212-T-C HPS4 c.686A>G p.Glu229Gly Missense 9/14 -
11-88924445-C-A TYR c.895C>A p.Arg299Ser Missense 2/5 -
5-33982474-A-C SLC45A2 c.429T>G p.Ser143Arg Missense 2/7 -
11-88960984-T-A TYR c.1037-7T>A - IntronicSNV - 2/4
11-88911693-GG-G TYR c.572delG p.Gly191Aspfs*35 Frameshift 1/5 -
11-88911696-C-A TYR c.575C>A p.Ser192Tyr Missense 1/5 -
22-26854441-G-A HPS4 c.1816C>T p.His606Tyr Missense 12/14 -
11-88911770-C-T TYR c.649C>T p.Arg217Trp Missense 1/5 -