Variant ID: 15-28116316-G-A

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

This variant was identified in 13 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: 2020-12-01

Variant appearance in text: OCA2: P743L
PubMed Link: 32333855
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
PubMed Link: 31636960
Variant Present in the following documents:
  • Main text
View BVdb publication page



A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping.

Scientific Reports
L O'Gorman, CS Norman, L Michaels, T Newall, AH Crosby, C Mattocks, AJ Cree, AJ Lotery, EL Baple, JA Ratnayaka, D Baralle, H Lee, D Osborne, F Shawkat, J Gibson, S Ennis, JE Self
Publication Date: 2019-09-13

Variant appearance in text: OCA2: P743L; rs121918167
PubMed Link: 31519934
Variant Present in the following documents:
  • 41598_2019_49368_MOESM1_ESM.pdf
View BVdb publication page



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
PubMed Link: 31077556
Variant Present in the following documents:
  • Main text
  • PCMR-32-672.pdf
View BVdb publication page



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
PubMed Link: 28451379
Variant Present in the following documents:
  • Main text
View BVdb publication page



High prevalence of TP53 mutations is associated with poor survival and an EMT signature in gliosarcoma patients.

Experimental & Molecular Medicine
SY Cho, C Park, D Na, JY Han, J Lee, OK Park, C Zhang, CO Sung, HE Moon, Y Kim, JH Kim, JJ Kim, SK Khang, DH Nam, JW Choi, YL Suh, DG Kim, SH Park, H Youn, K Yun, JI Kim, C Lee, SH Paek, H Park
Publication Date: 2017-04-14

Variant appearance in text: rs121918167
PubMed Link: 28408749
Variant Present in the following documents:
  • emm20179x1.xlsx
View BVdb publication page



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
PubMed Link: 28266639
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
PubMed Link: 27468418
Variant Present in the following documents:
  • Main text
View BVdb publication page



DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.

Human Mutation
DR Simeonov, X Wang, C Wang, Y Sergeev, M Dolinska, M Bower, R Fischer, D Winer, G Dubrovsky, JZ Balog, M Huizing, R Hart, WM Zein, WA Gahl, BP Brooks, DR Adams
Publication Date: 2013-06

Variant appearance in text: OCA2: 2228C>T; P743L
PubMed Link: 23504663
Variant Present in the following documents:
  • NIHMS464945-supplement-Supp_Material_S1.pdf
View BVdb publication page



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
PubMed Link: 22734612
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
PubMed Link: 20876667
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
PubMed Link: 18463683
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
PubMed Link: 12876664
Variant Present in the following documents:
  • Main text
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 -