TYR c.1255G>A ;(p.G419R)

Variant ID: 11-89018011-G-A

NM_000372.4(TYR):c.1255G>A;(p.G419R)

This variant was identified in 18 publications

View GRCh38 version.




Publications:


Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review.

Genes
Ullah, Muhammad Ikram MI
Publication Date: 2022-06-16

Variant appearance in text: TYR: 1255G>A
PubMed Link: 35741834
Variant Present in the following documents:
  • genes-13-01072.pdf
View BVdb publication page



Delineating Novel and Known Pathogenic Variants in TYR, OCA2 and HPS-1 Genes in Eight Oculocutaneous Albinism (OCA) Pakistani Families.

Genes
Shakil, Muhammad M; Akbar, Abida A; Aisha, Nazish Mahmood NM; Hussain, Intzar I; Ullah, Muhammad Ikram MI; Atif, Muhammad M; Kaul, Haiba H; Amar, Ali A; Latif, Muhammad Zahid MZ; Qureshi, Muhammad Atif MA; Mahmood, Saqib S
Publication Date: 2022-03-12

Variant appearance in text: TYR: 1255G>A
PubMed Link: 35328057
Variant Present in the following documents:
  • Main text
  • genes-13-00503.pdf
View BVdb publication page



The landscape of driver mutations in cutaneous squamous cell carcinoma.

Npj Genomic Medicine
Chang, Darwin D; Shain, A Hunter AH
Publication Date: 2021-07-16

Variant appearance in text: TYR: G419R
PubMed Link: 34272401
Variant Present in the following documents:
  • 41525_2021_226_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Genetic Causes of Oculocutaneous Albinism in Pakistani Population.

Genes
Sajid, Zureesha Z; Yousaf, Sairah S; Waryah, Yar M YM; Mughal, Tauqeer A TA; Kausar, Tasleem T; Shahzad, Mohsin M; Rao, Ali R AR; Abbasi, Ansar A AA; Shaikh, Rehan S RS; Waryah, Ali M AM; Riazuddin, Saima S; Ahmed, Zubair M ZM
Publication Date: 2021-03-28

Variant appearance in text: TYR: 1255G>A
PubMed Link: 33800529
Variant Present in the following documents:
  • Main text
  • genes-12-00492.pdf
View BVdb publication page



Molecular diagnostic challenges for non-retinal developmental eye disorders in the United Kingdom.

American Journal Of Medical Genetics. Part C, Seminars In Medical Genetics
Jackson, Daniel D; Malka, Samantha S; Harding, Philippa P; Palma, Juliana J; Dunbar, Hannah H; Moosajee, Mariya M
Publication Date: 2020-09

Variant appearance in text: TYR: 1255G>A; Gly419Arg
PubMed Link: 32830442
Variant Present in the following documents:
  • Main text
View BVdb publication page



Germline and somatic mutations in patients with multiple primary melanomas: a next generation sequencing study.

Bmc Cancer
Casula, Milena M; Paliogiannis, Panagiotis P; Ayala, Fabrizio F; De Giorgi, Vincenzo V; Stanganelli, Ignazio I; Mandalà, Mario M; Colombino, Maria M; Manca, Antonella A; Sini, Maria Cristina MC; Caracò, Corrado C; Ascierto, Paolo Antonio PA; Satta, Rosanna Rita RR; , ; Lissia, Amelia A; Cossu, Antonio A; Palmieri, Giuseppe G; ,
Publication Date: 2019-08-05

Variant appearance in text: TYR: 1255G>A
PubMed Link: 31382929
Variant Present in the following documents:
  • 12885_2019_5984_MOESM1_ESM.pdf
View BVdb publication page



A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine
Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y
Publication Date: 2019-07

Variant appearance in text: TYR: 1255G>A; Gly419Arg
PubMed Link: 31165590
Variant Present in the following documents:
  • MGG3-7-e00748-s004.xlsx, sheet 1
View BVdb publication page



Tyrosinase (TYR) gene sequencing and literature review reveals recurrent mutations and multiple population founder gene mutations as causative of oculocutaneous albinism (OCA) in Pakistani families.

Eye (London, England)
Shakil, Muhammad M; Harlalka, Gaurav V GV; Ali, Shamshad S; Lin, Siying S; D'Atri, Ilaria I; Hussain, Shabbir S; Nasir, Abdul A; Shahzad, Muhammad Aiman MA; Ullah, Muhammad Ikram MI; Self, Jay E JE; Baple, Emma L EL; Crosby, Andrew H AH; Mahmood, Saqib S
Publication Date: 2019-08

Variant appearance in text: TYR: 1255G>A
PubMed Link: 30996339
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: TYR: 1255G>A; rs61754392
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B).

Scientific Reports
Norman, Chelsea S CS; O'Gorman, Luke L; Gibson, Jane J; Pengelly, Reuben J RJ; Baralle, Diana D; Ratnayaka, J Arjuna JA; Griffiths, Helen H; Rose-Zerilli, Matthew M; Ranger, Megan M; Bunyan, David D; Lee, Helena H; Page, Rhiannon R; Newall, Tutte T; Shawkat, Fatima F; Mattocks, Christopher C; Ward, Daniel D; Ennis, Sarah S; Self, Jay E JE
Publication Date: 2017-06-30

Variant appearance in text: TYR: 1255G>A
PubMed Link: 28667292
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_4401.pdf
View BVdb publication page



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

Scientific Reports
Shahzad, Mohsin M; Yousaf, Sairah S; Waryah, Yar M YM; Gul, Hadia H; Kausar, Tasleem T; Tariq, Nabeela N; Mahmood, Umair U; Ali, Muhammad M; Khan, Muzammil A MA; Waryah, Ali M AM; Shaikh, Rehan S RS; Riazuddin, Saima S; Ahmed, Zubair M ZM; ,
Publication Date: 2017-03-07

Variant appearance in text: TYR: 1255G>A
PubMed Link: 28266639
Variant Present in the following documents:
  • Main text
  • srep44185-s1.pdf
  • srep44185.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: OCA1A: G419R
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: TYR: G419R
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



Sequence analysis of tyrosinase gene in ocular and oculocutaneous albinism patients: introducing three novel mutations.

Molecular Vision
Khordadpoor-Deilamani, Faravareh F; Akbari, Mohammad Taghi MT; Karimipoor, Morteza M; Javadi, Gholamreza G
Publication Date: 2015

Variant appearance in text: TYR: 1255G>A
PubMed Link: 26167114
Variant Present in the following documents:
  • Main text
  • mv-v21-730.pdf
View BVdb publication page



Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1).

Plos One
Ghodsinejad Kalahroudi, Vadieh V; Kamalidehghan, Behnam B; Arasteh Kani, Ahoura A; Aryani, Omid O; Tondar, Mahdi M; Ahmadipour, Fatemeh F; Chung, Lip Yong LY; Houshmand, Massoud M
Publication Date: 2014

Variant appearance in text: OCA1: 1255G>A
PubMed Link: 25216246
Variant Present in the following documents:
  • Main text
  • pone.0106656.pdf
View BVdb publication page



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

Orphanet Journal Of Rare Diseases
Jaworek, Thomas J TJ; Kausar, Tasleem T; Bell, Shannon M SM; Tariq, Nabeela N; Maqsood, Muhammad Imran MI; Sohail, Asma A; Ali, Muhmmmad M; Iqbal, Furhan F; Rasool, Shafqat S; Riazuddin, Saima S; Shaikh, Rehan S RS; Ahmed, Zubair M ZM
Publication Date: 2012-06-26

Variant appearance in text: TYR: 1255G>A
PubMed Link: 22734612
Variant Present in the following documents:
  • Main text
  • 1750-1172-7-44.pdf
View BVdb publication page



Spectrum of candidate gene mutations associated with Indian familial oculocutaneous and ocular albinism.

Molecular Vision
Renugadevi, Kathirvel K; Sil, Asim Kumar AK; Perumalsamy, Vijayalakshmi V; Sundaresan, Periasamy P
Publication Date: 2010-08-09

Variant appearance in text: TYR: 1255G>A
PubMed Link: 20806075
Variant Present in the following documents:
  • Main text
  • mv-v16-1514.pdf
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
Hutton, Saunie M SM; Spritz, Richard A RA
Publication Date: 2008-10

Variant appearance in text: OCA1: 1255G>A
PubMed Link: 18463683
Variant Present in the following documents:
  • Main text
View BVdb publication page