Variant ID: 15-28116316-G-A

NM_000275.2(OCA2):c.2228C>T;(p.Pro743Leu)

This variant was identified in 10 publications




Publications:


Membrane transport proteins in melanosomes: Regulation of ions for pigmentation.

Biochimica Et Biophysica Acta. Biomembranes
P Wiriyasermkul, S Moriyama, S Nagamori
Publication Date: 2020-04-22

Variant appearance in text: OCA2: P743L
PMID: 32333855
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A novel porcine model reproduces human oculocutaneous albinism type II.

Cell Discovery
Y Zhang, Q Hong, C Cao, L Yang, Y Li, T Hai, H Zhang, Q Zhou, R Sui, J Zhao
Publication Date: 2019

Variant appearance in text: OCA2: 2228C>T
PMID: 31636960
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Comprehensive analysis of spectral distribution of a large cohort of Chinese patients with non-syndromic oculocutaneous albinism facilitates genetic diagnosis.

Pigment Cell & Melanoma Research
Z Zhong, L Gu, X Zheng, N Ma, Z Wu, J Duan, J Zhang, J Chen
Publication Date: 2019-09

Variant appearance in text: OCA2: 2228C>T; Pro743Leu
PMID: 31077556
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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
Publication Date: 2017

Variant appearance in text: OCA2: 2228C>T; Pro743Leu
PMID: 28451379
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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,
Publication Date: 2017-03-07

Variant appearance in text: OCA2: 2228C>T; Pro743Leu
PMID: 28266639
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Importance of nonsynonymous OCA2 variants in human eye color prediction.

Molecular Genetics & Genomic Medicine
JD Andersen, C Pietroni, P Johansen, MM Andersen, V Pereira, C Børsting, N Morling
Publication Date: 2016-07

Variant appearance in text: rs121918167
PMID: 27468418
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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
Publication Date: 2012-06-26

Variant appearance in text: OCA2: 2228C>T; Pro743Leu
PMID: 22734612
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Genome-wide significant associations for variants with minor allele frequency of 5% or less--an overview: A HuGE review.

American Journal Of Epidemiology
OA Panagiotou, E Evangelou, JP Ioannidis
Publication Date: 2010-10-15

Variant appearance in text: OCA2: Pro743Leu
PMID: 20876667
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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
Publication Date: 2008-10

Variant appearance in text: OCA2: 2228C>T; P743L
PMID: 18463683
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MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2).

American Journal Of Human Genetics
RA King, RK Willaert, RM Schmidt, J Pietsch, S Savage, MJ Brott, JP Fryer, CG Summers, WS Oetting
Publication Date: 2003-09

Variant appearance in text: OCA2: P743L
PMID: 12876664
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000353809.5 c.2156C>T p.Pro719Leu missense_variant 20/23 -
ENST00000354638.3 c.2228C>T p.Pro743Leu missense_variant 21/24 -
NM_000275.3 c.2228C>T p.Pro743Leu missense_variant 21/24 -
NM_001300984.2 c.2156C>T p.Pro719Leu missense_variant 20/23 -