Paralogue Annotation for KCNQ1 residue 335

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 335
Reference Amino Acid: F - Phenylalanine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNQ1 residue 335

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCND3S390NSpinocerebellar ataxia 19Medium9 23280838, 25854634

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.



KCNQ1WGVVTVTTIGYGDKVPQTWVGKTIASCFSV>F<AISFFALPAGILGSGFALKVQQKQRQKHFN365
KCNQ2WGLITLTTIGYGDKYPQTWNGRLLAATFTL>I<GVSFFALPAGILGSGFALKVQEQHRQKHFE330
KCNQ3WGLITLATIGYGDKTPKTWEGRLIAATFSL>I<GVSFFALPAGILGSGLALKVQEQHRQKHFE369
KCNQ4WGTITLTTIGYGDKTPHTWLGRVLAAGFAL>L<GISFFALPAGILGSGFALKVQEQHRQKHFE336
KCNQ5WGTITLTTIGYGDKTPLTWLGRLLSAGFAL>L<GISFFALPAGILGSGFALKVQEQHRQKHFE364
KCNA1WAVVSMTTVGYGDMYPVTIGGKIVGSLCAI>A<GVLTIALPVPVIVSNFNYFYHRETEGEEQA425
KCNA10WAVVTMTTVGYGDMCPTTPGGKIVGTLCAI>A<GVLTIALPVPVIVSNFNYFYHRETENEEKQ474
KCNA2WAVVSMTTVGYGDMVPTTIGGKIVGSLCAI>A<GVLTIALPVPVIVSNFNYFYHRETEGEEQA427
KCNA3WAVVTMTTVGYGDMHPVTIGGKIVGSLCAI>A<GVLTIALPVPVIVSNFNYFYHRETEGEEQS497
KCNA4WAVVTMTTVGYGDMKPITVGGKIVGSLCAI>A<GVLTIALPVPVIVSNFNYFYHRETENEEQT577
KCNA5WAVVTMTTVGYGDMRPITVGGKIVGSLCAI>A<GVLTIALPVPVIVSNFNYFYHRETDHEEPA533
KCNA6WAVVTMTTVGYGDMYPMTVGGKIVGSLCAI>A<GVLTIALPVPVIVSNFNYFYHRETEQEEQG475
KCNA7WAVVTMTTVGYGDMAPVTVGGKIVGSLCAI>A<GVLTISLPVPVIVSNFSYFYHRETEGEEAG411
KCNB1WATITMTTVGYGDIYPKTLLGKIVGGLCCI>A<GVLVIALPIPIIVNNFSEFYKEQKRQEKAI430
KCNB2WATITMTTVGYGDIYPKTLLGKIVGGLCCI>A<GVLVIALPIPIIVNNFSEFYKEQKRQEKAI434
KCNC1WAVVTMTTLGYGDMYPQTWSGMLVGALCAL>A<GVLTIAMPVPVIVNNFGMYYSLAMAKQKLP453
KCNC2WAVVTMTTLGYGDMYPQTWSGMLVGALCAL>A<GVLTIAMPVPVIVNNFGMYYSLAMAKQKLP490
KCNC3WAVVTMTTLGYGDMYPKTWSGMLVGALCAL>A<GVLTIAMPVPVIVNNFGMYYSLAMAKQKLP556
KCNC4WAVVTMTTLGYGDMYPKTWSGMLVGALCAL>A<GVLTIAMPVPVIVNNFGMYYSLAMAKQKLP489
KCND1YTIVTMTTLGYGDMVPSTIAGKIFGSICSL>S<GVLVIALPVPVIVSNFSRIYHQNQRADKRR425
KCND2YTIVTMTTLGYGDMVPKTIAGKIFGSICSL>S<GVLVIALPVPVIVSNFSRIYHQNQRADKRR423
KCND3YTIVTMTTLGYGDMVPKTIAGKIFGSICSL>S<GVLVIALPVPVIVSNFSRIYHQNQRADKRR420
KCNF1WAIITMTTVGYGDIYPKTTLGKLNAAISFL>C<GVIAIALPIHPIINNFVRYYNKQRVLETAA423
KCNG1WAVITMTTVGYGDMVPRSTPGQVVALSSIL>S<GILLMAFPVTSIFHTFSRSYLELKQEQERV477
KCNG2WAVISMTTVGYGDMVPRSLPGQVVALSSIL>S<GILLMAFPVTSIFHTFSRSYSELKEQQQRA422
KCNG3WVIISMTTVGYGDMYPITVPGRILGGVCVV>S<GIVLLALPITFIYHSFVQCYHELKFRSARY426
KCNG4WAIISMTTVGYGDMVPRSVPGQMVALSSIL>S<GILIMAFPATSIFHTFSHSYLELKKEQEQL471
KCNS1WGTVSMTTVGYGDVVPVTVAGKLAASGCIL>G<GILVVALPITIIFNKFSHFYRRQKALEAAV474
KCNS2WATVSMTTVGYGDVVPGTTAGKLTASACIL>A<GILVVVLPITLIFNKFSHFYRRQKQLESAM427
KCNS3WATISMTTVGYGDTHPVTLAGKLIASTCII>C<GILVVALPITIIFNKFSKYYQKQKDIDVDQ423
KCNV1WATTSMTTVGYGDIRPDTTTGKIVAFMCIL>S<GILVLALPIAIINDRFSACYFTLKLKEAAV445
KCNV2WAAVSISTVGYGDMYPETHLGRFFAFLCIA>F<GIILNGMPISILYNKFSDYYSKLKAYEYTT510
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.F335Lc.1003T>C Putative Benignrs199472757SIFT: tolerated
Polyphen: probably damaging
ReportsPutative Benign Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome. Mayo Clin Proc. 2003 78(12):1479-87. 14661677
Putative Benign Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300