CFTR c.3656A>T ;(p.Y1219F)

Variant ID: 7-117267763-A-T

NM_000492.3(CFTR):c.3656A>T;(p.Y1219F)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Synergistic Potentiation of Cystic Fibrosis Transmembrane Conductance Regulator Gating by Two Chemically Distinct Potentiators, Ivacaftor (VX-770) and 5-Nitro-2-(3-Phenylpropylamino) Benzoate.

Molecular Pharmacology
Lin, Wen-Ying WY; Sohma, Yoshiro Y; Hwang, Tzyh-Chang TC
Publication Date: 2016-09

Variant appearance in text: CFTR: Y1219F
PubMed Link: 27413118
Variant Present in the following documents:
  • Main text
View BVdb publication page



A single amino acid substitution in CFTR converts ATP to an inhibitory ligand.

The Journal Of General Physiology
Lin, Wen-Ying WY; Jih, Kang-Yang KY; Hwang, Tzyh-Chang TC
Publication Date: 2014-10

Variant appearance in text: CFTR: Y1219F
PubMed Link: 25225552
Variant Present in the following documents:
  • Main text
  • JGP_201411247.pdf
View BVdb publication page



A stable ATP binding to the nucleotide binding domain is important for reliable gating cycle in an ABC transporter CFTR.

The Journal Of Physiological Sciences : Jps
Shimizu, Hiroyasu H; Yu, Ying-Chun YC; Kono, Koichi K; Kubota, Takahiro T; Yasui, Masato M; Li, Min M; Hwang, Tzyh-Chang TC; Sohma, Yoshiro Y
Publication Date: 2010-09

Variant appearance in text: CFTR: Y1219F
PubMed Link: 20628841
Variant Present in the following documents:
  • Main text
View BVdb publication page



The two ATP binding sites of cystic fibrosis transmembrane conductance regulator (CFTR) play distinct roles in gating kinetics and energetics.

The Journal Of General Physiology
Zhou, Zhen Z; Wang, Xiaohui X; Liu, Hao-Yang HY; Zou, Xiaoqin X; Li, Min M; Hwang, Tzyh-Chang TC
Publication Date: 2006-10

Variant appearance in text: CFTR: Y1219F
PubMed Link: 16966475
Variant Present in the following documents:
  • Main text
  • jgp1280413.pdf
View BVdb publication page