Paralogue Annotation for KCNQ1 residue 631

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 631
Reference Amino Acid: P - Proline
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 631

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNQ4V672MDeafnessLow1 23967202

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.



KCNQ1LSLHGGS----------------TPGSGGP>P<REGG--------AHITQPCGSGGS------647
KCNQ2MGIPPTE--TEAYFG--AKEPEPAPPYHSP>E<DSREH---VDRHGCIVKIVRSSSSTGQ---698
KCNQ3MERLQVQ--VTE--------YYPTKGTSSP>A<EAEK--KEDNRYSDLKTIICNYSETGPPEP695
KCNQ4LRSGTSA--SLGAVQVPLFDPDITSDYHSP>V<DHEDISVSAQTL-SISRSVSTNM-------694
KCNQ5LRKGSASALALASFQIPPFECEQTSDYQSP>V<DSKDLSGSAQNSGCLSRSTSANISRGLQFI691
KCNA1------------------------------>-<------------------------------
KCNA10------------------------------>-<------------------------------
KCNA2------------------------------>-<------------------------------
KCNA3------------------------------>-<------------------------------
KCNA4------------------------------>-<------------------------------
KCNA5------------------------------>-<------------------------------
KCNA6------------------------------>-<------------------------------
KCNA7------------------------------>-<------------------------------
KCNB1------------------------------>-<-------TLLDK------------------716
KCNB2------------------------------>-<-------SQGDR------------------766
KCNC1------------------------------>-<------------------------------
KCNC2------------------------------>-<------------------------------
KCNC3------------------------------>-<------------------------------
KCNC4------------------------------>-<------------------------------
KCND1------------------------------>-<------------------------------
KCND2------------------------------>-<------------------------------
KCND3------------------------------>-<------------------------------
KCNF1------------------------------>-<------------------------------
KCNG1------------------------------>-<------------------------------
KCNG2------------------------------>-<------------------------------
KCNG3------------------------------>-<------------------------------
KCNG4------------------------------>-<------------------------------
KCNS1------------------------------>-<------------------------------
KCNS2------------------------------>-<------------------------------
KCNS3------------------------------>-<------------------------------
KCNV1------------------------------>-<------------------------------
KCNV2------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

There are currently no reported variants at residue 631 for KCNQ1.