CFTR c.1300T>C ;(p.S434P)

Variant ID: 7-117188785-T-C

NM_000492.3(CFTR):c.1300T>C;(p.S434P)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Impact of the F508del mutation on ovine CFTR, a Cl- channel with enhanced conductance and ATP-dependent gating.

The Journal Of Physiology
Cai, Zhiwei Z; Palmai-Pallag, Timea T; Khuituan, Pissared P; Mutolo, Michael J MJ; Boinot, Clément C; Liu, Beihui B; Scott-Ward, Toby S TS; Callebaut, Isabelle I; Harris, Ann A; Sheppard, David N DN
Publication Date: 2015-06-01

Variant appearance in text: CFTR: S434P
PubMed Link: 25763566
Variant Present in the following documents:
  • Main text
View BVdb publication page



Allosteric modulation balances thermodynamic stability and restores function of ΔF508 CFTR.

Journal Of Molecular Biology
Aleksandrov, Andrei A AA; Kota, Pradeep P; Cui, Liying L; Jensen, Tim T; Alekseev, Alexey E AE; Reyes, Santiago S; He, Lihua L; Gentzsch, Martina M; Aleksandrov, Luba A LA; Dokholyan, Nikolay V NV; Riordan, John R JR
Publication Date: 2012-05-25

Variant appearance in text: CFTR: S434P
PubMed Link: 22406676
Variant Present in the following documents:
  • Main text
View BVdb publication page