Paralogue Annotation for KCNQ1 residue 629

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 629
Reference Amino Acid: G - Glycine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 629

No paralogue variants have been mapped to residue 629 for KCNQ1.



KCNQ1QLLSLHGGS----------------TPGSG>G<PPREGG--------AHITQPCGSGGS----647
KCNQ2QRMGIPPTE--TEAYFG--AKEPEPAPPYH>S<PEDSREH---VDRHGCIVKIVRSSSSTGQ-698
KCNQ3QHMERLQVQ--VTE--------YYPTKGTS>S<PAEAEK--KEDNRYSDLKTIICNYSETGPP693
KCNQ4RCLRSGTSA--SLGAVQVPLFDPDITSDYH>S<PVDHEDISVSAQTL-SISRSVSTNM-----694
KCNQ5QVLRKGSASALALASFQIPPFECEQTSDYQ>S<PVDSKDLSGSAQNSGCLSRSTSANISRGLQ689
KCNA1------------------------------>-<------------------------------
KCNA10------------------------------>-<------------------------------
KCNA2------------------------------>-<------------------------------
KCNA3------------------------------>-<------------------------------
KCNA4------------------------------>-<------------------------------
KCNA5------------------------------>-<------------------------------
KCNA6------------------------------>-<------------------------------
KCNA7------------------------------>-<------------------------------
KCNB1------------------------------>-<---------TLLDK----------------716
KCNB2------------------------------>-<---------SQGDR----------------766
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.G629Sc.1885G>A Putative BenignSIFT:
Polyphen:
ReportsUnknown Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510