Paralogue Annotation for KCNQ1 residue 472

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 472
Reference Amino Acid: L - Leucine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 472

No paralogue variants have been mapped to residue 472 for KCNQ1.



KCNQ1ERRL--------DHFSVDGYDSSVRKSPTL>L<EV---SM-----------------------476
KCNQ2DQSLED-SPSKVPKSW--SFGDRSRARQAF>-<-----RIKG---------------------500
KCNQ3VDAIEE-SPSKEPKPV--GLNNKERFRTAF>-<-----RMKA---------------------480
KCNQ4EQVGEATSPTKVQKSW--SFNDRTRFRASL>-<-----RLK----------------------498
KCNQ5DITAEG-SPTKVQKSW--SFNDRTRFRPSL>-<-----RLKS------------S--------482
KCNA1------------------------------>-<------------------------------
KCNA10------------------------------>-<------------------------------
KCNA2------------------------------>-<------------------------------
KCNA3------------------------------>-<------------------------------
KCNA4------------------------------>-<------------------------------
KCNA5------------------------------>-<------------------------------
KCNA6------------------------------>-<------------------------------
KCNA7------------------------------>-<------------------------------
KCNB1ARSSSSPQH-----L--------------->N<VQQLEDMYNKMAKTQ--SQPILNTKESAAQ553
KCNB2NTSSSSPQH-----L--------------->S<AQKLEMLYNEITKTQPHSHPNPDCQEKPER566
KCNC1------------------------------>-<------------------------------
KCNC2------------------------------>-<------------------------------
KCNC3------------------------------>-<------------------------------
KCNC4------------------------------>-<------------------------------
KCND1-F------------T--------------->D<EL----------------------------497
KCND2-F------------V--------------->D<EQ----------------------------497
KCND3-F------------I--------------->D<EQ----------------------------514
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.L472Pc.1415T>C Putative BenignSIFT: tolerated
Polyphen: probably damaging