Paralogue Annotation for KCNQ1 residue 455

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 455
Reference Amino Acid: H - Histidine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 455

No paralogue variants have been mapped to residue 455 for KCNQ1.



KCNQ1-GEKMLTVPHITCDPPEERRL--------D>H<FSVDGYDSSVRKSPTLLEV---SM------476
KCNQ2KGKGSPQAQTVRRSPSADQSLED-SPSKVP>K<SW--SFGDRSRARQAF------RIKG----500
KCNQ3KGKL--------FTPLNVDAIEE-SPSKEP>K<PV--GLNNKERFRTAF------RMKA----480
KCNQ4PSKQHLAPPTMPTSPSSEQVGEATSPTKVQ>K<SW--SFNDRTRFRASL------RLK-----498
KCNQ5KSRQ--ASVGDRRSPSTDITAEG-SPTKVQ>K<SW--SFNDRTRFRPSL------RLKS----481
KCNA1------------------------------>-<------------------------------
KCNA10------------------------------>-<------------------------------
KCNA2------------------------------>-<------------------------------
KCNA3------------------------------>-<------------------------------
KCNA4------------------------------>-<------------------------------
KCNA5------------------------------>-<------------------------------
KCNA6------------------------------>-<------------------------------
KCNA7------------------------------>-<------------------------------
KCNB1ETKEQGSPEK-------ARSSSSPQH---->-<L---------------NVQQLEDMYNKMAK538
KCNB2ENKYQEVSQKDSHEQLNNTSSSSPQH---->-<L---------------SAQKLEMLYNEITK549
KCNC1------------------------------>-<------------------------------
KCNC2------------------------------>-<------------------------------
KCNC3------------------------------>-<------------------------------
KCNC4------------------------------>-<------------------------------
KCND1E-----------------F----------->-<T---------------DEL-----------497
KCND2E-----------------F----------->-<V---------------DEQ-----------497
KCND3E-----------------F----------->-<I---------------DEQ-----------514
KCNF1------------------------------>-<------------------------------
KCNG1------------------------------>-<------------------------------
KCNG2------------------------------>-<------------------------------
KCNG3------------------------------>-<------------------------------
KCNG4------------------------------>-<------------------------------
KCNS1------------------------------>-<------------------------------
KCNS2------------------------------>-<------------------------------
KCNS3CTA--------------------------->-<------------------------------490
KCNV1------------------------------>-<------------------------------
KCNV2------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.H455Yc.1363C>T Inherited ArrhythmiaLQTSrs199473476SIFT: deleterious
Polyphen: benign
ReportsInherited ArrhythmiaLQTS Long QT and Brugada syndrome gene mutations in New Zealand. Heart Rhythm. 2007 4(10):1306-14. 17905336
Inherited ArrhythmiaLQTS Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome. Circ Arrhythm Electrophysiol. 2009 2(4):417-26. 19808498
Inherited ArrhythmiaLQTS Posthumous diagnosis of long QT syndrome from neonatal screening cards. Heart Rhythm. 2010 7(4):481-6. 20167303
p.H455Rc.1364A>G Putative BenignSIFT: tolerated
Polyphen: benign