Paralogue Annotation for KCNQ1 residue 428

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 428
Reference Amino Acid: D - Aspartate
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 428

No paralogue variants have been mapped to residue 428 for KCNQ1.



KCNQ1------TLLSPSPKPKKSVVVKKKKFKLDK>D<NGV-------------------TP-GEKML438
KCNQ2SP-CRGPLCGCCPGRSSQKVSLKDRV-FSS>P<RGV-------------------AAKGKGSP458
KCNQ3--------KEQLEAASSQKLGLLDRVRLSN>P<RGS-------------------NTKGKL--444
KCNQ4VATCHRPGSTSFCPGESSRMGIKDRIRMGS>S<QRR-------------------TGPSKQHL456
KCNQ5LHTCSPTKKEQGEASSSQKLSFKERVRMAS>P<RGQ-------------------SIKSRQ--439
KCNA1------------------------------>-<------------------------------
KCNA10------------------------------>-<------------------------------
KCNA2------------------------------>-<------------------------------
KCNA3------------------------------>-<------------------------------
KCNA4------------------------------>-<------------------------------
KCNA5------------------------------>-<------------------------------
KCNA6------------------------------>-<------------------------------
KCNA7------------------------------>-<------------------------------
KCNB1----------------------TKRTLSET>S<SSK-------------------SFETKEQG510
KCNB2----------------------ARKALSET>S<SNK-------------------SFENKYQE514
KCNC1------------------------------>-<------------------------------
KCNC2------------------------------>-<------------------------------
KCNC3------------------------------>-<------------------------------
KCNC4------------------------------>-<------------------------------
KCND1------------------------------>-<--T-------------------CHE-----492
KCND2------------------------------>-<--T-------------------NHE-----492
KCND3------------------------------>-<--TGLSYLVDDPLLSVRTSTIKNHE-----509
KCNF1----------------------------IP>L<LTE---------------------------482
KCNG1------------------------------>-<------------------------------
KCNG2------------------------------>-<------------------------------
KCNG3------------------------------>-<------------------------------
KCNG4------------------------------>-<------------------------------
KCNS1------------------------------>-<------------------------------
KCNS2------------------------------>-<------------------------------
KCNS3----------------------------CN>T<TSL-------------------ENCTA---490
KCNV1----------------------------W->-<------------------------------499
KCNV2------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.D428Gc.1283A>G Putative Benignrs199472779SIFT: tolerated
Polyphen: benign
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