Paralogue Annotation for KCNQ1 residue 346

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 346
Reference Amino Acid: I - Isoleucine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNQ1 residue 346

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCND2V404MAutism & epilepsyMedium9 24501278, 24501278

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.



KCNQ1GDKVPQTWVGKTIASCFSVFAISFFALPAG>I<LGSGFALKVQQKQRQKHFNRQIPA--AASL374
KCNQ2GDKYPQTWNGRLLAATFTLIGVSFFALPAG>I<LGSGFALKVQEQHRQKHFEKRRNP--AAGL339
KCNQ3GDKTPKTWEGRLIAATFSLIGVSFFALPAG>I<LGSGLALKVQEQHRQKHFEKRRKP--AAEL378
KCNQ4GDKTPHTWLGRVLAAGFALLGISFFALPAG>I<LGSGFALKVQEQHRQKHFEKRRMP--AANL345
KCNQ5GDKTPLTWLGRLLSAGFALLGISFFALPAG>I<LGSGFALKVQEQHRQKHFEKRRNP--AANL373
KCNA1GDMYPVTIGGKIVGSLCAIAGVLTIALPVP>V<IVSNFNYFYHRETEGEEQAQLLH-----VS431
KCNA10GDMCPTTPGGKIVGTLCAIAGVLTIALPVP>V<IVSNFNYFYHRETENEEKQNIPGEIERI--483
KCNA2GDMVPTTIGGKIVGSLCAIAGVLTIALPVP>V<IVSNFNYFYHRETEGEEQAQYLQ-----VT433
KCNA3GDMHPVTIGGKIVGSLCAIAGVLTIALPVP>V<IVSNFNYFYHRETEGEEQSQYMH-----VG503
KCNA4GDMKPITVGGKIVGSLCAIAGVLTIALPVP>V<IVSNFNYFYHRETENEEQTQLTQ-----NA583
KCNA5GDMRPITVGGKIVGSLCAIAGVLTIALPVP>V<IVSNFNYFYHRETDHEEPAVLKEE--QGTQ542
KCNA6GDMYPMTVGGKIVGSLCAIAGVLTIALPVP>V<IVSNFNYFYHRETEQEEQGQYTHV------480
KCNA7GDMAPVTVGGKIVGSLCAIAGVLTISLPVP>V<IVSNFSYFYHRETEGEEAGMFSHV------416
KCNB1GDIYPKTLLGKIVGGLCCIAGVLVIALPIP>I<IVNNFSEFYKEQKRQEKAIKRREA--LERA439
KCNB2GDIYPKTLLGKIVGGLCCIAGVLVIALPIP>I<IVNNFSEFYKEQKRQEKAIKRREA--LERA443
KCNC1GDMYPQTWSGMLVGALCALAGVLTIAMPVP>V<IVNNFGMYYSLAMAKQKLPKKKKK--HIPR462
KCNC2GDMYPQTWSGMLVGALCALAGVLTIAMPVP>V<IVNNFGMYYSLAMAKQKLPRKRKK--HIPP499
KCNC3GDMYPKTWSGMLVGALCALAGVLTIAMPVP>V<IVNNFGMYYSLAMAKQKLPKKKNK--HIPR565
KCNC4GDMYPKTWSGMLVGALCALAGVLTIAMPVP>V<IVNNFGMYYSLAMAKQKLPKKRKK--HVPR498
KCND1GDMVPSTIAGKIFGSICSLSGVLVIALPVP>V<IVSNFSRIYHQNQRADKRRAQQKV--RLAR434
KCND2GDMVPKTIAGKIFGSICSLSGVLVIALPVP>V<IVSNFSRIYHQNQRADKRRAQKKA--RLAR432
KCND3GDMVPKTIAGKIFGSICSLSGVLVIALPVP>V<IVSNFSRIYHQNQRADKRRAQKKA--RLAR429
KCNF1GDIYPKTTLGKLNAAISFLCGVIAIALPIH>P<IINNFVRYYNKQRVLETAAKHELE--LMEL432
KCNG1GDMVPRSTPGQVVALSSILSGILLMAFPVT>S<IFHTFSRSYLELKQEQERVMFRRA--QFLI486
KCNG2GDMVPRSLPGQVVALSSILSGILLMAFPVT>S<IFHTFSRSYSELKEQQQRAASPEP--ALQE431
KCNG3GDMYPITVPGRILGGVCVVSGIVLLALPIT>F<IYHSFVQCYHELKFRSARYSR---------428
KCNG4GDMVPRSVPGQMVALSSILSGILIMAFPAT>S<IFHTFSHSYLELKKEQEQLQARLR--HLQN480
KCNS1GDVVPVTVAGKLAASGCILGGILVVALPIT>I<IFNKFSHFYRRQKALEAAVRNSNH--QEFE483
KCNS2GDVVPGTTAGKLTASACILAGILVVVLPIT>L<IFNKFSHFYRRQKQLESAMRSCDF--GDGM436
KCNS3GDTHPVTLAGKLIASTCIICGILVVALPIT>I<IFNKFSKYYQKQKDIDVDQCSEDA--PEKC432
KCNV1GDIRPDTTTGKIVAFMCILSGILVLALPIA>I<INDRFSACYFTLKLKEAAVRQREA--LKKL454
KCNV2GDMYPETHLGRFFAFLCIAFGIILNGMPIS>I<LYNKFSDYYSKLKAYEYTTIRRER--GEVN519
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

There are currently no reported variants at residue 346 for KCNQ1.