Paralogue Annotation for KCNQ1 residue 609

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 609
Reference Amino Acid: I - Isoleucine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 609

No paralogue variants have been mapped to residue 609 for KCNQ1.



KCNQ1KSKDRGSNTIGARLNRVEDKVTQLDQRLAL>I<TDMLHQLLSLHGGS----------------623
KCNQ2EAELPEDPSMMGRLGKVEKQVLSMEKKLDF>L<VNIYMQRMGIPPTE--TEAYFG--AKEPEP666
KCNQ3TSEI-EDQSMMGKFVKVERQVQDMGKKLDF>L<VDMHMQHMERLQVQ--VTE--------YYP659
KCNQ4DAEVVDEISMMGRVVKVEKQVQSIEHKLDL>L<LGFYSRCLRSGTSA--SLGAVQVPLFDPDI664
KCNQ5EHETTDDLSMLGRVVKVEKQVQSIESKLDC>L<LDIYQQVLRKGSASALALASFQIPPFECEQ653
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.I609Nc.1826T>A Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. Genet Test Mol Biomarkers. 2013 17(7):553-61. doi: 10.1089/gtmb.2012.0118. 23631430