Paralogue Annotation for KCNQ1 residue 602

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 602
Reference Amino Acid: L - Leucine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 602

No paralogue variants have been mapped to residue 602 for KCNQ1.



KCNQ1-----SEKSKDRGSNTIGARLNRVEDKVTQ>L<DQRLALITDMLHQLLSLHGGS---------623
KCNQ2-----PAEAELPEDPSMMGRLGKVEKQVLS>M<EKKLDFLVNIYMQRMGIPPTE--TEAYFG-660
KCNQ3PYVARPSTSEI-EDQSMMGKFVKVERQVQD>M<GKKLDFLVDMHMQHMERLQVQ--VTE----656
KCNQ4-----PSDAEVVDEISMMGRVVKVEKQVQS>I<EHKLDLLLGFYSRCLRSGTSA--SLGAVQV657
KCNQ5-----TAEHETTDDLSMLGRVVKVEKQVQS>I<ESKLDCLLDIYQQVLRKGSASALALASFQI646
KCNA1------------------------------>-<------------------------------
KCNA10------------------------------>-<------------------------------
KCNA2------------------------------>-<------------------------------
KCNA3------------------------------>-<------------------------------
KCNA4------------------------------>-<------------------------------
KCNA5------------------------------>-<------------------------------
KCNA6------------------------------>-<------------------------------
KCNA7------------------------------>-<------------------------------
KCNB1------------------------------>-<------------------------------
KCNB2------------------------------>-<------------------------------
KCNC1------------------------------>-<------------------------------
KCNC2------------------------------>-<------------------------------
KCNC3------------------------------>-<------------------------------
KCNC4------------------------------>-<------------------------------
KCND1------------------------------>-<------------------------------
KCND2------------------------------>-<------------------------------
KCND3------------------------------>-<------------------------------
KCNF1------------------------------>-<------------------------------
KCNG1------------------------------>-<------------------------------
KCNG2------------------------------>-<------------------------------
KCNG3------------------------------>-<------------------------------
KCNG4------------------------------>-<------------------------------
KCNS1------------------------------>-<------------------------------
KCNS2------------------------------>-<------------------------------
KCNS3------------------------------>-<------------------------------
KCNV1------------------------------>-<------------------------------
KCNV2------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L602Pc.1805T>C Inherited ArrhythmiaLQTSrs199472818SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Long QT syndrome with compound mutations is associated with a more severe phenotype: a Japanese multicenter study. Heart Rhythm. 2010 7(10):1411-8. 20541041