TTN c.175A>T ;(p.S59C)

Variant ID: 2-179666985-T-A

NM_001267550.1(TTN):c.175A>T;(p.S59C)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

The Regulatory Domain of Squalene Monooxygenase Contains a Re-entrant Loop and Senses Cholesterol via a Conformational Change.

The Journal Of Biological Chemistry
Howe, Vicky V; Chua, Ngee Kiat NK; Stevenson, Julian J; Brown, Andrew J AJ
Publication Date: 2015-11-13

Variant appearance in text: TMD: S59C
PubMed Link: 26434806
Variant Present in the following documents:
  • Main text
View BVdb publication page