Paralogue Annotation for KCNQ1 residue 336

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 336
Reference Amino Acid: A - Alanine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNQ1 residue 336

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNQ2G301SEpileptic encephalopathy, early-onsetMedium9 26007637
KCNQ3G340VEpilepsy, benign neonatalMedium9 25982755
KCNV2G481RLeber congenital amaurosisMedium9 26047050
KCNB1G401REpilepsy, infantileMedium9 26477325

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.



KCNQ1GVVTVTTIGYGDKVPQTWVGKTIASCFSVF>A<ISFFALPAGILGSGFALKVQQKQRQKHFNR366
KCNQ2GLITLTTIGYGDKYPQTWNGRLLAATFTLI>G<VSFFALPAGILGSGFALKVQEQHRQKHFEK331
KCNQ3GLITLATIGYGDKTPKTWEGRLIAATFSLI>G<VSFFALPAGILGSGLALKVQEQHRQKHFEK370
KCNQ4GTITLTTIGYGDKTPHTWLGRVLAAGFALL>G<ISFFALPAGILGSGFALKVQEQHRQKHFEK337
KCNQ5GTITLTTIGYGDKTPLTWLGRLLSAGFALL>G<ISFFALPAGILGSGFALKVQEQHRQKHFEK365
KCNA1AVVSMTTVGYGDMYPVTIGGKIVGSLCAIA>G<VLTIALPVPVIVSNFNYFYHRETEGEEQAQ426
KCNA10AVVTMTTVGYGDMCPTTPGGKIVGTLCAIA>G<VLTIALPVPVIVSNFNYFYHRETENEEKQN475
KCNA2AVVSMTTVGYGDMVPTTIGGKIVGSLCAIA>G<VLTIALPVPVIVSNFNYFYHRETEGEEQAQ428
KCNA3AVVTMTTVGYGDMHPVTIGGKIVGSLCAIA>G<VLTIALPVPVIVSNFNYFYHRETEGEEQSQ498
KCNA4AVVTMTTVGYGDMKPITVGGKIVGSLCAIA>G<VLTIALPVPVIVSNFNYFYHRETENEEQTQ578
KCNA5AVVTMTTVGYGDMRPITVGGKIVGSLCAIA>G<VLTIALPVPVIVSNFNYFYHRETDHEEPAV534
KCNA6AVVTMTTVGYGDMYPMTVGGKIVGSLCAIA>G<VLTIALPVPVIVSNFNYFYHRETEQEEQGQ476
KCNA7AVVTMTTVGYGDMAPVTVGGKIVGSLCAIA>G<VLTISLPVPVIVSNFSYFYHRETEGEEAGM412
KCNB1ATITMTTVGYGDIYPKTLLGKIVGGLCCIA>G<VLVIALPIPIIVNNFSEFYKEQKRQEKAIK431
KCNB2ATITMTTVGYGDIYPKTLLGKIVGGLCCIA>G<VLVIALPIPIIVNNFSEFYKEQKRQEKAIK435
KCNC1AVVTMTTLGYGDMYPQTWSGMLVGALCALA>G<VLTIAMPVPVIVNNFGMYYSLAMAKQKLPK454
KCNC2AVVTMTTLGYGDMYPQTWSGMLVGALCALA>G<VLTIAMPVPVIVNNFGMYYSLAMAKQKLPR491
KCNC3AVVTMTTLGYGDMYPKTWSGMLVGALCALA>G<VLTIAMPVPVIVNNFGMYYSLAMAKQKLPK557
KCNC4AVVTMTTLGYGDMYPKTWSGMLVGALCALA>G<VLTIAMPVPVIVNNFGMYYSLAMAKQKLPK490
KCND1TIVTMTTLGYGDMVPSTIAGKIFGSICSLS>G<VLVIALPVPVIVSNFSRIYHQNQRADKRRA426
KCND2TIVTMTTLGYGDMVPKTIAGKIFGSICSLS>G<VLVIALPVPVIVSNFSRIYHQNQRADKRRA424
KCND3TIVTMTTLGYGDMVPKTIAGKIFGSICSLS>G<VLVIALPVPVIVSNFSRIYHQNQRADKRRA421
KCNF1AIITMTTVGYGDIYPKTTLGKLNAAISFLC>G<VIAIALPIHPIINNFVRYYNKQRVLETAAK424
KCNG1AVITMTTVGYGDMVPRSTPGQVVALSSILS>G<ILLMAFPVTSIFHTFSRSYLELKQEQERVM478
KCNG2AVISMTTVGYGDMVPRSLPGQVVALSSILS>G<ILLMAFPVTSIFHTFSRSYSELKEQQQRAA423
KCNG3VIISMTTVGYGDMYPITVPGRILGGVCVVS>G<IVLLALPITFIYHSFVQCYHELKFRSARYS427
KCNG4AIISMTTVGYGDMVPRSVPGQMVALSSILS>G<ILIMAFPATSIFHTFSHSYLELKKEQEQLQ472
KCNS1GTVSMTTVGYGDVVPVTVAGKLAASGCILG>G<ILVVALPITIIFNKFSHFYRRQKALEAAVR475
KCNS2ATVSMTTVGYGDVVPGTTAGKLTASACILA>G<ILVVVLPITLIFNKFSHFYRRQKQLESAMR428
KCNS3ATISMTTVGYGDTHPVTLAGKLIASTCIIC>G<ILVVALPITIIFNKFSKYYQKQKDIDVDQC424
KCNV1ATTSMTTVGYGDIRPDTTTGKIVAFMCILS>G<ILVLALPIAIINDRFSACYFTLKLKEAAVR446
KCNV2AAVSISTVGYGDMYPETHLGRFFAFLCIAF>G<IILNGMPISILYNKFSDYYSKLKAYEYTTI511
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

There are currently no reported variants at residue 336 for KCNQ1.