Paralogue Annotation for KCNQ1 residue 441

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 441
Reference Amino Acid: P - Proline
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 441

No paralogue variants have been mapped to residue 441 for KCNQ1.



KCNQ1V-------------------TP-GEKMLTV>P<HITCDPPEERRL--------DHFSVDGYDS463
KCNQ2V-------------------AAKGKGSPQA>Q<TVRRSPSADQSLED-SPSKVPKSW--SFGD488
KCNQ3S-------------------NTKGKL---->-<---FTPLNVDAIEE-SPSKEPKPV--GLNN468
KCNQ4R-------------------TGPSKQHLAP>P<TMPTSPSSEQVGEATSPTKVQKSW--SFND487
KCNQ5Q-------------------SIKSRQ--AS>V<GDRRSPSTDITAEG-SPTKVQKSW--SFND469
KCNA1------------------------------>-<------------------------------
KCNA10------------------------------>-<------------------------------
KCNA2------------------------------>-<------------------------------
KCNA3------------------------------>-<------------------------------
KCNA4------------------------------>-<------------------------------
KCNA5------------------------------>-<------------------------------
KCNA6------------------------------>-<------------------------------
KCNA7------------------------------>-<------------------------------
KCNB1K-------------------SFETKEQGSP>E<K-------ARSSSSPQH-----L-------524
KCNB2K-------------------SFENKYQEVS>Q<KDSHEQLNNTSSSSPQH-----L-------535
KCNC1------------------------------>-<------------------------------
KCNC2------------------------------>-<------------------------------
KCNC3------------------------------>-<------------------------------
KCNC4------------------------------>-<------------------------------
KCND1T-------------------CHE------->-<---------F------------T-------494
KCND2T-------------------NHE------->-<---------F------------V-------494
KCND3TGLSYLVDDPLLSVRTSTIKNHE------->-<---------F------------I-------511
KCNF1E----------------------------->-<------------------------------482
KCNG1------------------------------>-<------------------------------
KCNG2------------------------------>-<------------------------------
KCNG3------------------------------>-<------------------------------
KCNG4------------------------------>-<------------------------------
KCNS1------------------------------>-<------------------------------
KCNS2------------------------------>-<------------------------------
KCNS3L-------------------ENCTA----->-<------------------------------490
KCNV1------------------------------>-<------------------------------
KCNV2------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.P441Sc.1321C>T Putative Benignrs199473475SIFT: tolerated
Polyphen: probably damaging
ReportsPutative Benign Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome. Mayo Clin Proc. 2003 78(12):1479-87. 14661677
Putative Benign Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300