PMID: 22734612

Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population.

Orphanet journal of rare diseases
TJ Jaworek, T Kausar, SM Bell, N Tariq, MI Maqsood, A Sohail, M Ali, F Iqbal, S Rasool, S Riazuddin, RS Shaikh, ZM Ahmed
2012-06-26

27 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
11-88911183-C-T TYR c.62C>T p.Pro21Leu Missense 1/5 -
15-28234812-T-A OCA2 c.1117A>T p.Arg373* Nonsense 11/24 -
15-28235808-A-C OCA2 c.1045-15T>G - IntronicSNV - 9/23
11-88924446-G-A TYR c.896G>A p.Arg299His Missense 2/5 -
12-93236260-T-C EEA1 c.896A>G p.Glu299Gly Missense 10/29 -
15-28090178-C-T OCA2 c.2359G>A p.Ala787Thr Missense 23/24 -
11-89018011-G-A TYR c.1255G>A p.Gly419Arg Missense 4/5 -
11-89018048-C-T TYR c.1292C>T p.Pro431Leu Missense 4/5 -
11-89017973-C-T TYR c.1217C>T p.Pro406Leu Missense 4/5 -
15-28235773-C-T OCA2 c.1065G>A p.Ala355Ala Synonymous 10/24 -
11-88911224-T-C TYR c.103T>C p.Cys35Arg Missense 1/5 -
11-88924497-GCTG-G TYR c.947_949delCTG p.Ala316delAla InFrameDeletion 2/5 -
15-28230184-T-C OCA2 c.1364+26A>G - IntronicSNV - 13/23
15-28116316-G-A OCA2 c.2228C>T p.Pro743Leu Missense 21/24 -
11-89017987-T-C TYR c.1231T>C p.Tyr411His Missense 4/5 -
5-33947279-C-A SLC45A2 c.1357G>T p.Glu453* Nonsense 6/7 -
15-28211921-G-A OCA2 c.1551C>T p.Cys517Cys Synonymous 15/24 -
15-28231793-T-C OCA2 c.1183-4A>G - IntronicSNV - 11/23
11-89018047-C-A TYR c.1291C>A p.Pro431Thr Missense 4/5 -
11-88911696-C-A TYR c.575C>A p.Ser192Tyr Missense 1/5 -
15-28090173-C-T OCA2 c.2364G>A p.Ser788Ser Synonymous 23/24 -
15-28090177-G-A OCA2 c.2360C>T p.Ala787Val Missense 23/24 -
15-28228538-C-A OCA2 c.1456G>T p.Asp486Tyr Missense 14/24 -
15-28260012-C-T OCA2 c.954G>A p.Met318Ile Missense 9/24 -
15-28211892-A-C OCA2 c.1580T>G p.Leu527Arg Missense 15/24 -
15-28230097-C-T OCA2 c.1364+113G>A - IntronicSNV - 13/23
11-88924382-C-T TYR c.832C>T p.Arg278* Nonsense 2/5 -