CFTR c.1645A>T ;(p.S549C)

Variant ID: 7-117227853-A-T

NM_000492.3(CFTR):c.1645A>T;(p.S549C)

This variant was identified in 6 publications

View GRCh38 version.



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

Publications:

Cysteine accessibility probes timing and extent of NBD separation along the dimer interface in gating CFTR channels.

The Journal Of General Physiology
Chaves, Luiz A Poletto LA; Gadsby, David C DC
Publication Date: 2015-04

Variant appearance in text: CFTR: S549C
PubMed Link: 25825169
Variant Present in the following documents:
  • Main text
  • supp_jgp.201411347_JGP_201411347_sm.pdf
  • JGP_201411347.pdf
View BVdb publication page


Cystic fibrosis-related liver disease: a single-center experience.

Pediatric Reports
Costa, Paula Catarino PC; Barreto, Celeste Canha CC; Pereira, Luisa L; Lobo, Maria Luisa ML; Costa, Maria Adília MA; Lopes, Ana Isabel Gouveia AI
Publication Date: 2011-06-30

Variant appearance in text: CFTR: S549C
PubMed Link: 22053265
Variant Present in the following documents:
  • Main text
  • pr-2011-3-e21.pdf
View BVdb publication page


Mutations at the signature sequence of CFTR create a Cd(2+)-gated chloride channel.

The Journal Of General Physiology
Wang, Xiaohui X; Bompadre, Silvia G SG; Li, Min M; Hwang, Tzyh-Chang TC
Publication Date: 2009-01

Variant appearance in text: CFTR: S549C
PubMed Link: 19114635
Variant Present in the following documents:
  • Main text
  • jgp1330069.pdf
View BVdb publication page


In vivo phosphorylation of CFTR promotes formation of a nucleotide-binding domain heterodimer.

The Embo Journal
Mense, Martin M; Vergani, Paola P; White, Dennis M DM; Altberg, Gal G; Nairn, Angus C AC; Gadsby, David C DC
Publication Date: 2006-10-18

Variant appearance in text: CFTR: S549C
PubMed Link: 17036051
Variant Present in the following documents:
  • Main text
View BVdb publication page


Control of the CFTR channel's gates.

Biochemical Society Transactions
Vergani, P P; Basso, C C; Mense, M M; Nairn, A C AC; Gadsby, D C DC
Publication Date: 2005-11

Variant appearance in text: CFTR: S549C
PubMed Link: 16246032
Variant Present in the following documents:
  • Main text
View BVdb publication page


Gating induces a conformational change in the outer vestibule of ENaC.

The Journal Of General Physiology
Snyder, P M PM; Bucher, D B DB; Olson, D R DR
Publication Date: 2000-12

Variant appearance in text: CFTR: S549C
PubMed Link: 11099347
Variant Present in the following documents:
  • 8232.pdf
View BVdb publication page