PMID: 28451379

Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W.

Cell & bioscience
J Gao, L D'Souza, K Wetherby, C Antolik, M Reeves, DR Adams, S Tumminia, X Wang
2017

74 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
11-88961044-A-C TYR c.1090A>C p.Asn364His Missense 3/5 -
11-89017960-C-T TYR c.1204C>T p.Arg402* Nonsense 4/5 -
15-28116316-G-A OCA2 c.2228C>T p.Pro743Leu Missense 21/24 -
22-28195709-C-A MN1 c.823G>T p.Ala275Ser Missense 1/2 -
11-88961139-G-A TYR c.1184+1G>A - IntronicSNV - 3/4
11-88924363-T-A TYR c.820-7T>A - IntronicSNV - 1/4
15-28277307-G-GCCT OCA2 c.229_230insAGG - SpliceAcceptorInsertion 3/24 -
11-88924368-A-G TYR c.820-2A>G - IntronicSNV - 1/4
15-28200303-C-A OCA2 c.1842+1G>T - IntronicSNV - 17/23
22-28195799-TCA-T MN1 c.732_733delTG p.Phe244Leufs*7 Frameshift 1/2 -
15-28277299-A-G OCA2 c.238T>C p.Ser80Pro Missense 3/24 -
11-89018126-A-G TYR c.1366+4A>G - IntronicSNV - 4/4
22-28195883-G-A MN1 c.649C>T p.Leu217Leu Synonymous 1/2 -
22-28195601-C-CC MN1 c.932dupG p.Val312Cysfs*4 Frameshift 1/2 -
11-88911153-G-A TYR c.32G>A p.Trp11* Nonsense 1/5 -
15-28231755-A-G OCA2 c.1217T>C p.Phe406Ser Missense 12/24 -
22-28196531-T-C MN1 c.1A>G p.Met1Val Missense 1/2 -
11-89018021-G-A TYR c.1265G>A p.Arg422Gln Missense 4/5 -
22-28195637-G-A MN1 c.895C>T p.Gln299* Nonsense 1/2 -
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 -
11-88911801-GGAG-G TYR c.680_682delGAG p.Gly227delGly InFrameDeletion 1/5 -
22-28195640-G-A MN1 c.892C>T p.Gln298* Nonsense 1/2 -
15-28228553-C-T OCA2 c.1441G>A p.Ala481Thr Missense 14/24 -
11-88911351-G-A TYR c.230G>A p.Arg77Gln Missense 1/5 -
11-88911407-A-AA TYR c.286_286dupA p.Met96Asnfs*73 Frameshift 1/5 -
22-28195637-G-T MN1 c.895C>A p.Gln299Lys Missense 1/2 -
15-28267661-G-A OCA2 c.632C>T p.Pro211Leu Missense 6/24 -
15-28230247-C-T OCA2 c.1327G>A p.Val443Ile Missense 13/24 -
11-89017955-G-T TYR c.1199G>T p.Trp400Leu Missense 4/5 -
15-28230335-C-G OCA2 c.1240-1G>C - IntronicSNV - 12/23
11-88960984-T-A TYR c.1037-7T>A - IntronicSNV - 2/4
22-28195323-C-A MN1 c.1209G>T p.Gln403His Missense 1/2 -
22-28195223-C-T MN1 c.1309G>A p.Ala437Thr Missense 1/2 -
11-88924382-C-T TYR c.832C>T p.Arg278* Nonsense 2/5 -
11-88911693-GG-G TYR c.572delG p.Gly191Aspfs*35 Frameshift 1/5 -
15-28230283-G-T OCA2 c.1291C>A p.Leu431Ile Missense 13/24 -
15-28262865-GC-G OCA2 c.807+678delG - IntronicDeletion - 7/23
11-88911879-G-A TYR c.758G>A p.Gly253Glu Missense 1/5 -
11-88911567-A-G TYR c.446A>G p.Tyr149Cys Missense 1/5 -
22-28195140-G-GG MN1 c.1392_1392dup p.Ala465Argfs*20 Frameshift 1/2 -
11-88911467-C-T TYR c.346C>T p.Arg116* Nonsense 1/5 -
15-28326864-CT-C OCA2 c.157delA p.Arg53Glyfs*49 Frameshift 2/24 -
11-88911727-T-G TYR c.606T>G p.His202Gln Missense 1/5 -
11-89018020-C-T TYR c.1264C>T p.Arg422Trp Missense 4/5 -
15-28228622-C-T OCA2 c.1372G>A p.Glu458Lys Missense 14/24 -
11-88924446-G-A TYR c.896G>A p.Arg299His Missense 2/5 -
11-88961101-G-A TYR c.1147G>A p.Asp383Asn Missense 3/5 -
22-28195883-AG-A MN1 c.649delC p.Leu217Trpfs*6 Frameshift 1/2 -
11-88911734-C-A TYR c.613C>A p.Pro205Thr Missense 1/5 -
11-88911192-G-A TYR c.71G>A p.Cys24Tyr Missense 1/5 -
15-28260053-G-A OCA2 c.913C>T p.Arg305Trp Missense 9/24 -
22-28195414-G-T MN1 c.1118C>A p.Ser373* Nonsense 1/2 -
11-88961065-A-T TYR c.1111A>T p.Asn371Tyr Missense 3/5 -
11-88924479-C-CC TYR c.929_929dupC p.Arg311Lysfs*7 Frameshift 2/5 -
22-28195867-A-G MN1 c.665T>C p.Val222Ala Missense 1/2 -
11-88911782-G-A TYR c.661G>A p.Glu221Lys Missense 1/5 -
22-28196383-G-A MN1 c.149C>T p.Pro50Leu Missense 1/2 -
15-28228529-T-C OCA2 c.1465A>G p.Asn489Asp Missense 14/24 -
11-88961104-C-G TYR c.1150C>G p.Pro384Ala Missense 3/5 -
11-88911261-G-A TYR c.140G>A p.Gly47Asp Missense 1/5 -
11-88924588-T-G TYR c.1036+2T>G - IntronicSNV - 2/4
11-88911363-C-T TYR c.242C>T p.Pro81Leu Missense 1/5 -
11-89017973-C-T TYR c.1217C>T p.Pro406Leu Missense 4/5 -
15-28326960-G-A OCA2 c.61C>T p.Gln21* Nonsense 2/24 -
11-88911937-G-C TYR c.816G>C p.Trp272Cys Missense 1/5 -
15-28096556-A-C OCA2 c.2310T>G p.Tyr770* Nonsense 22/24 -
11-88911771-G-A TYR c.650G>A p.Arg217Gln Missense 1/5 -
11-88960990-G-A TYR c.1037-1G>A - IntronicSNV - 2/4
15-28235735-G-A OCA2 c.1103C>T p.Ala368Val Missense 10/24 -
11-88911468-G-T TYR c.347G>T p.Arg116Leu Missense 1/5 -
11-88911350-C-T TYR c.229C>T p.Arg77Trp Missense 1/5 -
15-28230318-C-T OCA2 c.1256G>A p.Arg419Gln Missense 13/24 -
11-88911763-TCTT-T TYR c.642_644delCTT p.Phe214delPhe InFrameDeletion 1/5 -