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	-