Paralogue Annotation for KCNQ1 residue 347

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 347
Reference Amino Acid: L - Leucine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNQ1 residue 347

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNA1I407MEpisodic ataxia 1Medium9 23349320, 23349320

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in KCNQ1.



KCNQ1DKVPQTWVGKTIASCFSVFAISFFALPAGI>L<GSGFALKVQQKQRQKHFNRQIPA--AASLI375
KCNQ2DKYPQTWNGRLLAATFTLIGVSFFALPAGI>L<GSGFALKVQEQHRQKHFEKRRNP--AAGLI340
KCNQ3DKTPKTWEGRLIAATFSLIGVSFFALPAGI>L<GSGLALKVQEQHRQKHFEKRRKP--AAELI379
KCNQ4DKTPHTWLGRVLAAGFALLGISFFALPAGI>L<GSGFALKVQEQHRQKHFEKRRMP--AANLI346
KCNQ5DKTPLTWLGRLLSAGFALLGISFFALPAGI>L<GSGFALKVQEQHRQKHFEKRRNP--AANLI374
KCNA1DMYPVTIGGKIVGSLCAIAGVLTIALPVPV>I<VSNFNYFYHRETEGEEQAQLLH-----VS-431
KCNA10DMCPTTPGGKIVGTLCAIAGVLTIALPVPV>I<VSNFNYFYHRETENEEKQNIPGEIERI---483
KCNA2DMVPTTIGGKIVGSLCAIAGVLTIALPVPV>I<VSNFNYFYHRETEGEEQAQYLQ-----VT-433
KCNA3DMHPVTIGGKIVGSLCAIAGVLTIALPVPV>I<VSNFNYFYHRETEGEEQSQYMH-----VG-503
KCNA4DMKPITVGGKIVGSLCAIAGVLTIALPVPV>I<VSNFNYFYHRETENEEQTQLTQ-----NAV584
KCNA5DMRPITVGGKIVGSLCAIAGVLTIALPVPV>I<VSNFNYFYHRETDHEEPAVLKEE--QGTQS543
KCNA6DMYPMTVGGKIVGSLCAIAGVLTIALPVPV>I<VSNFNYFYHRETEQEEQGQYTHV-------480
KCNA7DMAPVTVGGKIVGSLCAIAGVLTISLPVPV>I<VSNFSYFYHRETEGEEAGMFSHV-------416
KCNB1DIYPKTLLGKIVGGLCCIAGVLVIALPIPI>I<VNNFSEFYKEQKRQEKAIKRREA--LERA-439
KCNB2DIYPKTLLGKIVGGLCCIAGVLVIALPIPI>I<VNNFSEFYKEQKRQEKAIKRREA--LERA-443
KCNC1DMYPQTWSGMLVGALCALAGVLTIAMPVPV>I<VNNFGMYYSLAMAKQKLPKKKKK--HIPR-462
KCNC2DMYPQTWSGMLVGALCALAGVLTIAMPVPV>I<VNNFGMYYSLAMAKQKLPRKRKK--HIPP-499
KCNC3DMYPKTWSGMLVGALCALAGVLTIAMPVPV>I<VNNFGMYYSLAMAKQKLPKKKNK--HIPR-565
KCNC4DMYPKTWSGMLVGALCALAGVLTIAMPVPV>I<VNNFGMYYSLAMAKQKLPKKRKK--HVPR-498
KCND1DMVPSTIAGKIFGSICSLSGVLVIALPVPV>I<VSNFSRIYHQNQRADKRRAQQKV--RLARI435
KCND2DMVPKTIAGKIFGSICSLSGVLVIALPVPV>I<VSNFSRIYHQNQRADKRRAQKKA--RLARI433
KCND3DMVPKTIAGKIFGSICSLSGVLVIALPVPV>I<VSNFSRIYHQNQRADKRRAQKKA--RLARI430
KCNF1DIYPKTTLGKLNAAISFLCGVIAIALPIHP>I<INNFVRYYNKQRVLETAAKHELE--LMEL-432
KCNG1DMVPRSTPGQVVALSSILSGILLMAFPVTS>I<FHTFSRSYLELKQEQERVMFRRA--QFLI-486
KCNG2DMVPRSLPGQVVALSSILSGILLMAFPVTS>I<FHTFSRSYSELKEQQQRAASPEP--ALQE-431
KCNG3DMYPITVPGRILGGVCVVSGIVLLALPITF>I<YHSFVQCYHELKFRSARYSR----------428
KCNG4DMVPRSVPGQMVALSSILSGILIMAFPATS>I<FHTFSHSYLELKKEQEQLQARLR--HLQN-480
KCNS1DVVPVTVAGKLAASGCILGGILVVALPITI>I<FNKFSHFYRRQKALEAAVRNSNH--QEFE-483
KCNS2DVVPGTTAGKLTASACILAGILVVVLPITL>I<FNKFSHFYRRQKQLESAMRSCDF--GDGM-436
KCNS3DTHPVTLAGKLIASTCIICGILVVALPITI>I<FNKFSKYYQKQKDIDVDQCSEDA--PEKC-432
KCNV1DIRPDTTTGKIVAFMCILSGILVLALPIAI>I<NDRFSACYFTLKLKEAAVRQREA--LKKL-454
KCNV2DMYPETHLGRFFAFLCIAFGIILNGMPISI>L<YNKFSDYYSKLKAYEYTTIRRER--GEVN-519
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L347Pc.1040T>C Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Common Genotypes of Long QT Syndrome in China and the Role of ECG Prediction. Cardiology. 2016 133(2):73-8. doi: 10.1159/000440608. 26496715