Paralogue Annotation for KCNQ1 residue 656

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 656
Reference Amino Acid: S - Serine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 656

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCND2D612NJ-wave syndrome with sudden cardiac deathLow2 25214526, 25214526

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------------------------PELFLP>S<----NTLPTYEQLTVPRRGP-DEGS-----676
KCNQ2PGCR-PPEGNLRDSDTSISIPSVDHEELER>S<FSGFSISQSKENLDALNSCY-AAVAPCAK-829
KCNQ3ISPR-QRRSITRDSDTPLSLMSVNHEELER>S<PSGFSISQDRDDYVFGPNGG-SS---WMR-828
KCNQ4------------------------------>-<------------------------------
KCNQ5KDRS-MRKSFDMGGETLLSVCPMVPKDLGK>S<LSVQNLIRSTEELNIQLSGS-ESSGSRGSQ858
KCNA1------------------------------>-<------------------------------
KCNA10------------------------------>-<------------------------------
KCNA2------------------------------>-<------------------------------
KCNA3------------------------------>-<------------------------------
KCNA4------------------------------>-<------------------------------
KCNA5------------------------------>-<------------------------------
KCNA6------------------------------>-<------------------------------
KCNA7------------------------------>-<------------------------------
KCNB1VDSS-PPK---SLPGSTSPKFSTG--TRSE>K<NHFESSPLPTSPKFLRQNCIYSTEAL-TGK823
KCNB2REEKQVD----SSPNCFADKPSDGRDPLRE>E<GSVGSSSPQDTGHNCRQDI-YHAVSE-VKK876
KCNC1------------------------------>-<----------------PTEA-VRV------584
KCNC2------------------------------>-<----------------PVTS-PYNSP----624
KCNC3------------------------------>-<----------------ANAA-AWIS-----756
KCNC4------------------------------>-<----------------PTAG-TLFLP----634
KCND1IPT--PPA---NT-----PDESQPSSPGGG>G<RAGSTLRNSSLGTPCLFPET-VKISS----646
KCND2IPT--PPV---TT-----PE--------GD>D<RPE--SP------EYSGGNI-VRVSA----629
KCND3IPT--PPA---LT-----PE--------GE>S<RPPPASPGPNTNIPSIASNV-VKVSA----654
KCNF1------------------------------>-<------------------------------
KCNG1------------------------------>-<------------------------------
KCNG2------------------------------>-<------------------------------
KCNG3------------------------------>-<------------------------------
KCNG4------------------------------>-<------------------------------
KCNS1------------------------------>-<------------------------------
KCNS2------------------------------>-<------------------------------
KCNS3------------------------------>-<------------------------------
KCNV1------------------------------>-<------------------------------
KCNV2------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.S656Tc.1967G>C Putative BenignSIFT: tolerated
Polyphen: benign