CFTR c.1264T>C ;(p.S422P)

Variant ID: 7-117188749-T-C

NM_000492.3(CFTR):c.1264T>C;(p.S422P)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Substitution of Yor1p NBD1 residues improves the thermal stability of Human Cystic Fibrosis Transmembrane Conductance Regulator.

Protein Engineering, Design & Selection : Peds
Xavier, B M BM; Hildebrandt, E E; Jiang, F F; Ding, H H; Kappes, J C JC; Urbatsch, I L IL
Publication Date: 2017-10-01

Variant appearance in text: CFTR: S422P
PubMed Link: 29053845
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: S422P
PubMed Link: 25763566
Variant Present in the following documents:
  • Main text
View BVdb publication page



Restoration of NBD1 thermal stability is necessary and sufficient to correct ∆F508 CFTR folding and assembly.

Journal Of Molecular Biology
He, Lihua L; Aleksandrov, Andrei A AA; An, Jianli J; Cui, Liying L; Yang, Zhengrong Z; Brouillette, Christie G CG; Riordan, John R JR
Publication Date: 2015-01-16

Variant appearance in text: CFTR: S422P
PubMed Link: 25083918
Variant Present in the following documents:
  • Main text
View BVdb publication page



Revertant mutants modify, but do not rescue, the gating defect of the cystic fibrosis mutant G551D-CFTR.

The Journal Of Physiology
Xu, Zhe Z; Pissarra, Luísa S LS; Farinha, Carlos M CM; Liu, Jia J; Cai, Zhiwei Z; Thibodeau, Patrick H PH; Amaral, Margarida D MD; Sheppard, David N DN
Publication Date: 2014-05-01

Variant appearance in text: CFTR: S422P
PubMed Link: 24591578
Variant Present in the following documents:
  • Main text
View BVdb publication page



Correctors of ΔF508 CFTR restore global conformational maturation without thermally stabilizing the mutant protein.

Faseb Journal : Official Publication Of The Federation Of American Societies For Experimental Biology
He, Lihua L; Kota, Pradeep P; Aleksandrov, Andrei A AA; Cui, Liying L; Jensen, Tim T; Dokholyan, Nikolay V NV; Riordan, John R JR
Publication Date: 2013-02

Variant appearance in text: CFTR: S422P
PubMed Link: 23104983
Variant Present in the following documents:
  • Main text
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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: S422P
PubMed Link: 22406676
Variant Present in the following documents:
  • Main text
View BVdb publication page