Paralogue Annotation for KCNQ1 residue 460

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 460
Reference Amino Acid: G - Glycine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 460

No paralogue variants have been mapped to residue 460 for KCNQ1.



KCNQ1LTVPHITCDPPEERRL--------DHFSVD>G<YDSSVRKSPTLLEV---SM-----------476
KCNQ2PQAQTVRRSPSADQSLED-SPSKVPKSW-->S<FGDRSRARQAF------RIKG---------500
KCNQ3-------FTPLNVDAIEE-SPSKEPKPV-->G<LNNKERFRTAF------RMKA---------480
KCNQ4LAPPTMPTSPSSEQVGEATSPTKVQKSW-->S<FNDRTRFRASL------RLK----------498
KCNQ5-ASVGDRRSPSTDITAEG-SPTKVQKSW-->S<FNDRTRFRPSL------RLKS---------481
KCNA1------------------------------>-<------------------------------
KCNA10------------------------------>-<------------------------------
KCNA2------------------------------>-<------------------------------
KCNA3------------------------------>-<------------------------------
KCNA4------------------------------>-<------------------------------
KCNA5------------------------------>-<------------------------------
KCNA6------------------------------>-<------------------------------
KCNA7------------------------------>-<------------------------------
KCNB1GSPEK-------ARSSSSPQH-----L--->-<-----------NVQQLEDMYNKMAKTQ--S541
KCNB2EVSQKDSHEQLNNTSSSSPQH-----L--->-<-----------SAQKLEMLYNEITKTQPHS554
KCNC1------------------------------>-<------------------------------
KCNC2------------------------------>-<------------------------------
KCNC3------------------------------>-<------------------------------
KCNC4------------------------------>-<------------------------------
KCND1-------------F------------T--->-<-----------DEL----------------497
KCND2-------------F------------V--->-<-----------DEQ----------------497
KCND3-------------F------------I--->-<-----------DEQ----------------514
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.G460Sc.1378G>A Inherited ArrhythmiaLQTSrs199472783SIFT: tolerated
Polyphen: benign
ReportsOther Cardiac Phenotype Prevalence of long-QT syndrome gene variants in sudden infant death syndrome. Circulation. 2007 115(3):361-7. 17210839
Inherited ArrhythmiaLQTS Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085
Other Cardiac Phenotype Mutations in Genes Encoding Cardiac Ion Channels Previously Associated With Sudden Infant Death Syndrome (SIDS) Are Present With High Frequency in New Exome Data. Can J Cardiol. 2013 23465283
Unknown Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381
Other Cardiac Phenotype Identification of Medically Actionable Secondary Findings in the 1000 Genomes. PLoS One. 2015 10(9):e0135193. doi: 10.1371/journal.pone.0135193. 26332594
p.G460Cc.1378G>T Putative BenignSIFT:
Polyphen:
p.G460Dc.1379G>A Putative BenignSIFT:
Polyphen: