Paralogue Annotation for KCNQ1 residue 630

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 630
Reference Amino Acid: P - Proline
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 630

No paralogue variants have been mapped to residue 630 for KCNQ1.



KCNQ1LLSLHGGS----------------TPGSGG>P<PREGG--------AHITQPCGSGGS-----647
KCNQ2RMGIPPTE--TEAYFG--AKEPEPAPPYHS>P<EDSREH---VDRHGCIVKIVRSSSSTGQ--698
KCNQ3HMERLQVQ--VTE--------YYPTKGTSS>P<AEAEK--KEDNRYSDLKTIICNYSETGPPE694
KCNQ4CLRSGTSA--SLGAVQVPLFDPDITSDYHS>P<VDHEDISVSAQTL-SISRSVSTNM------694
KCNQ5VLRKGSASALALASFQIPPFECEQTSDYQS>P<VDSKDLSGSAQNSGCLSRSTSANISRGLQF690
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.P630Ac.1888C>G Inherited ArrhythmiaLQTSrs199472822SIFT: deleterious
Polyphen: possibly damaging
ReportsInherited ArrhythmiaLQTS Long QT and Brugada syndrome gene mutations in New Zealand. Heart Rhythm. 2007 4(10):1306-14. 17905336