Paralogue Annotation for KCNQ1 residue 348

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 348
Reference Amino Acid: G - Glycine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNQ1 residue 348

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNA1V408AEpisodic ataxia / myokymiaMedium9 7842011, 10383630, 21307345, 8845167, 9526001
KCNA1V408LEpisodic ataxia with cerebellar dysfunction & cognMedium9 19205071

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.



KCNQ1KVPQTWVGKTIASCFSVFAISFFALPAGIL>G<SGFALKVQQKQRQKHFNRQIPA--AASLI-375
KCNQ2KYPQTWNGRLLAATFTLIGVSFFALPAGIL>G<SGFALKVQEQHRQKHFEKRRNP--AAGLI-340
KCNQ3KTPKTWEGRLIAATFSLIGVSFFALPAGIL>G<SGLALKVQEQHRQKHFEKRRKP--AAELI-379
KCNQ4KTPHTWLGRVLAAGFALLGISFFALPAGIL>G<SGFALKVQEQHRQKHFEKRRMP--AANLI-346
KCNQ5KTPLTWLGRLLSAGFALLGISFFALPAGIL>G<SGFALKVQEQHRQKHFEKRRNP--AANLI-374
KCNA1MYPVTIGGKIVGSLCAIAGVLTIALPVPVI>V<SNFNYFYHRETEGEEQAQLLH-----VS--431
KCNA10MCPTTPGGKIVGTLCAIAGVLTIALPVPVI>V<SNFNYFYHRETENEEKQNIPGEIERI----483
KCNA2MVPTTIGGKIVGSLCAIAGVLTIALPVPVI>V<SNFNYFYHRETEGEEQAQYLQ-----VT--433
KCNA3MHPVTIGGKIVGSLCAIAGVLTIALPVPVI>V<SNFNYFYHRETEGEEQSQYMH-----VG--503
KCNA4MKPITVGGKIVGSLCAIAGVLTIALPVPVI>V<SNFNYFYHRETENEEQTQLTQ-----NAV-584
KCNA5MRPITVGGKIVGSLCAIAGVLTIALPVPVI>V<SNFNYFYHRETDHEEPAVLKEE--QGTQS-543
KCNA6MYPMTVGGKIVGSLCAIAGVLTIALPVPVI>V<SNFNYFYHRETEQEEQGQYTHV--------480
KCNA7MAPVTVGGKIVGSLCAIAGVLTISLPVPVI>V<SNFSYFYHRETEGEEAGMFSHV--------416
KCNB1IYPKTLLGKIVGGLCCIAGVLVIALPIPII>V<NNFSEFYKEQKRQEKAIKRREA--LERA--439
KCNB2IYPKTLLGKIVGGLCCIAGVLVIALPIPII>V<NNFSEFYKEQKRQEKAIKRREA--LERA--443
KCNC1MYPQTWSGMLVGALCALAGVLTIAMPVPVI>V<NNFGMYYSLAMAKQKLPKKKKK--HIPR--462
KCNC2MYPQTWSGMLVGALCALAGVLTIAMPVPVI>V<NNFGMYYSLAMAKQKLPRKRKK--HIPP--499
KCNC3MYPKTWSGMLVGALCALAGVLTIAMPVPVI>V<NNFGMYYSLAMAKQKLPKKKNK--HIPR--565
KCNC4MYPKTWSGMLVGALCALAGVLTIAMPVPVI>V<NNFGMYYSLAMAKQKLPKKRKK--HVPR--498
KCND1MVPSTIAGKIFGSICSLSGVLVIALPVPVI>V<SNFSRIYHQNQRADKRRAQQKV--RLARIR436
KCND2MVPKTIAGKIFGSICSLSGVLVIALPVPVI>V<SNFSRIYHQNQRADKRRAQKKA--RLARIR434
KCND3MVPKTIAGKIFGSICSLSGVLVIALPVPVI>V<SNFSRIYHQNQRADKRRAQKKA--RLARIR431
KCNF1IYPKTTLGKLNAAISFLCGVIAIALPIHPI>I<NNFVRYYNKQRVLETAAKHELE--LMEL--432
KCNG1MVPRSTPGQVVALSSILSGILLMAFPVTSI>F<HTFSRSYLELKQEQERVMFRRA--QFLI--486
KCNG2MVPRSLPGQVVALSSILSGILLMAFPVTSI>F<HTFSRSYSELKEQQQRAASPEP--ALQE--431
KCNG3MYPITVPGRILGGVCVVSGIVLLALPITFI>Y<HSFVQCYHELKFRSARYSR-----------428
KCNG4MVPRSVPGQMVALSSILSGILIMAFPATSI>F<HTFSHSYLELKKEQEQLQARLR--HLQN--480
KCNS1VVPVTVAGKLAASGCILGGILVVALPITII>F<NKFSHFYRRQKALEAAVRNSNH--QEFE--483
KCNS2VVPGTTAGKLTASACILAGILVVVLPITLI>F<NKFSHFYRRQKQLESAMRSCDF--GDGM--436
KCNS3THPVTLAGKLIASTCIICGILVVALPITII>F<NKFSKYYQKQKDIDVDQCSEDA--PEKC--432
KCNV1IRPDTTTGKIVAFMCILSGILVLALPIAII>N<DRFSACYFTLKLKEAAVRQREA--LKKL--454
KCNV2MYPETHLGRFFAFLCIAFGIILNGMPISIL>Y<NKFSDYYSKLKAYEYTTIRRER--GEVN--519
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

There are currently no reported variants at residue 348 for KCNQ1.