Paralogue Annotation for KCNQ1 residue 319

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 319
Reference Amino Acid: V - Valine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNQ1 residue 319

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNQ2Y284CEpilepsy, benign neonatalMedium9 9425895

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.



KCNQ1-ESGRVEFGSYADALWWGVVTVTTIGYGDK>V<PQTWVGKTIASCFSVFAISFFALPAGILGS349
KCNQ2----NDHFDTYADALWWGLITLTTIGYGDK>Y<PQTWNGRLLAATFTLIGVSFFALPAGILGS314
KCNQ3GEEMKEEFETYADALWWGLITLATIGYGDK>T<PKTWEGRLIAATFSLIGVSFFALPAGILGS353
KCNQ4----NSDFSSYADSLWWGTITLTTIGYGDK>T<PHTWLGRVLAAGFALLGISFFALPAGILGS320
KCNQ5----NKEFSTYADALWWGTITLTTIGYGDK>T<PLTWLGRLLSAGFALLGISFFALPAGILGS348
KCNA1---AESHFSSIPDAFWWAVVSMTTVGYGDM>Y<PVTIGGKIVGSLCAIAGVLTIALPVPVIVS409
KCNA10---PESHFSSIPDGFWWAVVTMTTVGYGDM>C<PTTPGGKIVGTLCAIAGVLTIALPVPVIVS458
KCNA2---RESQFPSIPDAFWWAVVSMTTVGYGDM>V<PTTIGGKIVGSLCAIAGVLTIALPVPVIVS411
KCNA3---PTSGFSSIPDAFWWAVVTMTTVGYGDM>H<PVTIGGKIVGSLCAIAGVLTIALPVPVIVS481
KCNA4---PTTHFQSIPDAFWWAVVTMTTVGYGDM>K<PITVGGKIVGSLCAIAGVLTIALPVPVIVS561
KCNA5---QGTHFSSIPDAFWWAVVTMTTVGYGDM>R<PITVGGKIVGSLCAIAGVLTIALPVPVIVS517
KCNA6---DDSLFPSIPDAFWWAVVTMTTVGYGDM>Y<PMTVGGKIVGSLCAIAGVLTIALPVPVIVS459
KCNA7---VDSHFTSIPESFWWAVVTMTTVGYGDM>A<PVTVGGKIVGSLCAIAGVLTISLPVPVIVS395
KCNB1---DDTKFKSIPASFWWATITMTTVGYGDI>Y<PKTLLGKIVGGLCCIAGVLVIALPIPIIVN414
KCNB2---DATKFTSIPASFWWATITMTTVGYGDI>Y<PKTLLGKIVGGLCCIAGVLVIALPIPIIVN418
KCNC1SASEHTHFKNIPIGFWWAVVTMTTLGYGDM>Y<PQTWSGMLVGALCALAGVLTIAMPVPVIVN437
KCNC2SASEHTQFKNIPIGFWWAVVTMTTLGYGDM>Y<PQTWSGMLVGALCALAGVLTIAMPVPVIVN474
KCNC3LGSNHTYFKNIPIGFWWAVVTMTTLGYGDM>Y<PKTWSGMLVGALCALAGVLTIAMPVPVIVN540
KCNC4RGNDHTDFKNIPIGFWWAVVTMTTLGYGDM>Y<PKTWSGMLVGALCALAGVLTIAMPVPVIVN473
KCND1---NKTNFTSIPAAFWYTIVTMTTLGYGDM>V<PSTIAGKIFGSICSLSGVLVIALPVPVIVS409
KCND2---SASKFTSIPAAFWYTIVTMTTLGYGDM>V<PKTIAGKIFGSICSLSGVLVIALPVPVIVS407
KCND3---SASKFTSIPASFWYTIVTMTTLGYGDM>V<PKTIAGKIFGSICSLSGVLVIALPVPVIVS404
KCNF1---PETLFKSIPQSFWWAIITMTTVGYGDI>Y<PKTTLGKLNAAISFLCGVIAIALPIHPIIN407
KCNG1---DSPEFTSIPACYWWAVITMTTVGYGDM>V<PRSTPGQVVALSSILSGILLMAFPVTSIFH461
KCNG2---ARRDFSSVPASYWWAVISMTTVGYGDM>V<PRSLPGQVVALSSILSGILLMAFPVTSIFH406
KCNG3LETSNKDFTSIPAACWWVIISMTTVGYGDM>Y<PITVPGRILGGVCVVSGIVLLALPITFIYH410
KCNG4---RVLEFTSIPASYWWAIISMTTVGYGDM>V<PRSVPGQMVALSSILSGILIMAFPATSIFH455
KCNS1----DVGFNTIPACWWWGTVSMTTVGYGDV>V<PVTVAGKLAASGCILGGILVVALPITIIFN458
KCNS2----NEGLATIPACWWWATVSMTTVGYGDV>V<PGTTAGKLTASACILAGILVVVLPITLIFN411
KCNS3---HTSSLTSIPICWWWATISMTTVGYGDT>H<PVTLAGKLIASTCIICGILVVALPITIIFN407
KCNV1---PDTTFTSVPCAWWWATTSMTTVGYGDI>R<PDTTTGKIVAFMCILSGILVLALPIAIIND429
KCNV2---PSTNFTTIPHSWWWAAVSISTVGYGDM>Y<PETHLGRFFAFLCIAFGIILNGMPISILYN494
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

There are currently no reported variants at residue 319 for KCNQ1.