MYOC c.1442C>T ;(p.P481L)

Variant ID: 1-171605138-G-A

NM_000261.1(MYOC):c.1442C>T;(p.P481L)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Disambiguation of benign and misfolded glaucoma-causing myocilin variants on the basis of protein thermal stability.

Disease Models & Mechanisms
Scelsi, Hailee F HF; Hill, Kamisha R KR; Barlow, Brett M BM; Martin, Mackenzie D MD; Lieberman, Raquel L RL
Publication Date: 2022-12-29

Variant appearance in text: MYOC: P481L
PubMed Link: 36579626
Variant Present in the following documents:
  • dmm-16-049816-s1.pdf
View BVdb publication page



Age at Glaucoma Diagnosis in Germline Myocilin Mutation Patients: Associations with Polymorphisms in Protein Stabilities.

Genes
Tanji, Tarin T; Cohen, Emily E; Shen, Darrick D; Zhang, Chi C; Yu, Fei F; Coleman, Anne L AL; Zheng, Jie J JJ
Publication Date: 2021-11-16

Variant appearance in text: MYOC: P481L
PubMed Link: 34828408
Variant Present in the following documents:
  • Main text
  • genes-12-01802.pdf
View BVdb publication page



Updates on Genes and Genetic Mechanisms Implicated in Primary Angle-Closure Glaucoma.

The Application Of Clinical Genetics
Kondkar, Altaf A AA
Publication Date: 2021

Variant appearance in text: MYOC: Pro481Leu
PubMed Link: 33727852
Variant Present in the following documents:
  • Main text
  • tacg-14-89.pdf
View BVdb publication page



Physiological function of myocilin and its role in the pathogenesis of glaucoma in the trabecular meshwork (Review).

International Journal Of Molecular Medicine
Wang, Hongwei H; Li, Mingzhe M; Zhang, Zhenzhen Z; Xue, Haifeng H; Chen, Xing X; Ji, Yong Y
Publication Date: 2019-02

Variant appearance in text: MYOC: Pro481Leu
PubMed Link: 30483726
Variant Present in the following documents:
  • Main text
  • ijmm-43-02-0671.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: GLC1A: P481L
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: MYOC: P481L
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Two novel myocilin mutations in a Chinese family with primary open-angle glaucoma.

Molecular Vision
Xie, Xiaobing X; Zhou, Xin X; Qu, Xiying X; Wen, Jing J; Tian, Yanli Y; Zheng, Fang F
Publication Date: 2008-09-05

Variant appearance in text: MYOC: Pro481Leu
PubMed Link: 18776955
Variant Present in the following documents:
  • Main text
  • mv-v14-1666.pdf
View BVdb publication page