PMID: 28266639

Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population.

Scientific reports
M Shahzad, S Yousaf, YM Waryah, H Gul, T Kausar, N Tariq, U Mahmood, M Ali, MA Khan, AM Waryah, RS Shaikh, S Riazuddin, ZM Ahmed,
2017-03-07

24 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
9-12702424-G-A TYRP1 c.1067G>A p.Arg356Gln Missense 5/8 -
15-28231761-G-A OCA2 c.1211C>T p.Thr404Met Missense 12/24 -
11-88961101-G-A TYR c.1147G>A p.Asp383Asn Missense 3/5 -
15-28235763-C-G OCA2 c.1075G>C p.Gly359Arg Missense 10/24 -
11-88911285-G-C TYR c.164G>C p.Cys55Ser Missense 1/5 -
9-12694252-G-T TYRP1 c.256G>T p.Asp86Tyr Missense 2/8 -
11-88924446-G-A TYR c.896G>A p.Arg299His Missense 2/5 -
11-88911706-G-A TYR c.585G>A p.Trp195* Nonsense 1/5 -
15-28259979-G-T OCA2 c.987C>A p.Thr329Thr Synonymous 9/24 -
15-28235782-T-G OCA2 c.1056A>C p.Arg352Ser Missense 10/24 -
11-88911344-G-T TYR c.223G>T p.Asp75Tyr Missense 1/5 -
15-28196959-G-A OCA2 c.1922C>T p.Ser641Leu Missense 18/24 -
11-89028478-C-T TYR c.1534C>T p.Gln512* Nonsense 5/5 -
15-28116316-G-A OCA2 c.2228C>T p.Pro743Leu Missense 21/24 -
11-89017960-C-T TYR c.1204C>T p.Arg402* Nonsense 4/5 -
5-33944814-G-A SLC45A2 c.1532C>T p.Ala511Val Missense 7/7 -
15-28235774-G-A OCA2 c.1064C>T p.Ala355Val Missense 10/24 -
15-28090177-G-A OCA2 c.2360C>T p.Ala787Val Missense 23/24 -
11-88911770-C-T TYR c.649C>T p.Arg217Trp Missense 1/5 -
15-28090177-G-T OCA2 c.2360C>A p.Ala787Glu Missense 23/24 -
15-28228538-C-A OCA2 c.1456G>T p.Asp486Tyr Missense 14/24 -
11-88960991-G-A TYR c.1037G>A p.Gly346Glu Missense 3/5 -
11-88924382-C-T TYR c.832C>T p.Arg278* Nonsense 2/5 -
15-28230252-T-C OCA2 c.1322A>G p.Asp441Gly Missense 13/24 -