Paralogue Annotation for KCNQ1 residue 588

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 588
Reference Amino Acid: I - Isoleucine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 588

No paralogue variants have been mapped to residue 588 for KCNQ1.



KCNQ1-V-----------------SEKSKDRGSNT>I<GARLNRVEDKVTQLDQRLALITDMLHQLLS618
KCNQ2KG-----------------PAEAELPEDPS>M<MGRLGKVEKQVLSMEKKLDFLVNIYMQRMG649
KCNQ3SAFTFPSQQSPRNEPYVARPSTSEI-EDQS>M<MGKFVKVERQVQDMGKKLDFLVDMHMQHME648
KCNQ4KG-----------------PSDAEVVDEIS>M<MGRVVKVEKQVQSIEHKLDLLLGFYSRCLR645
KCNQ5KI-----------------TAEHETTDDLS>M<LGRVVKVEKQVQSIESKLDCLLDIYQQVLR632
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.I588Fc.1762A>T Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1. Am J Med Genet A. 2016 170(6):1510-9. doi: 10.1002/ajmg.a.37636. 27041150
p.I588Tc.1763T>C Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Semiconductor Whole Exome Sequencing for the Identification of Genetic Variants in Colombian Patients Clinically Diagnosed with Long QT Syndrome. Mol Diagn Ther. 2016 20(4):353-62. doi: 10.1007/s40291-016-0207-2. 27251404
p.Ile588Phec.1762A>T UnknownSIFT:
Polyphen:
p.Ile588Thrc.1763T>C UnknownSIFT:
Polyphen: