Paralogue Annotation for KCNQ1 residue 399

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 399
Reference Amino Acid: A - Alanine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 399

No paralogue variants have been mapped to residue 399 for KCNQ1.



KCNQ1-------------------STWKI-YIRK->A<--PRSH------------------------403
KCNQ2-------------------STWQY-YERT->V<TVPMYSS--QT-QTY------------GAS382
KCNQ3-------------------ATWRF-YESV->V<SFPFFR------------------------412
KCNQ4-------------------ATWYY-YDSI->L<--PSFRELALL-FEH------------VQR388
KCNQ5-------------------ATWK------->-<--PHLK------------------------398
KCNA1------------------------DL-SR->-<RS-----SS-T-MS-------------KSE453
KCNA10-------------------------L--N->-<SV-----GS-R-MG-------------STD495
KCNA2-----------------------DLK-KS->-<RS-----AS-T-IS-------------KSD457
KCNA3-----------------------ELR-KA->-<RS-----NS-T-LS-------------KSE528
KCNA4-----------------------KFR-SS->-<TS-----SS-L-GD-------------KSE610
KCNA5VSG-SRGSFCKAGG------T--LEN--A->-<DS----ARR-G-SC----------------581
KCNA6------------QP------A--PDL--R->-<AT-----DN-G-LG----------------497
KCNA7--------------------G--PLE--G->-<KA-----NG-G-LV----------------433
KCNB1-------------------------M-K-->D<AF-----AR-S-IE-----MMD---IVVEK467
KCNB2-------------------------L-K-->D<AF-----AR-S-ME-----LID---VAVEK471
KCNC1-------------------VNSPHHS-TQ->-<SD-----TC-P-LA-------------QEE494
KCNC2-------------------LNMACNS-TQ->-<SD-----TC-L-GK-------------DNR531
KCNC3AGPHTHPGLLRGGAGGLGIMGLPPLP-AP->-<GE-----PC-P-LA-------------QEE652
KCNC4-------------------ETSPRDS-TC->-<SD-----TS-PPAR-------------EEG531
KCND1-------------------------F-LQY>K<QN-----GG-L-ED-----SG--S-GEEQA465
KCND2-------------------------Y-MQS>K<RN-----GL-L-SN-----QLQ-SSEDEQA465
KCND3-------------------------Y-LHS>K<RN-----GL-L-NE-----ALELTGTPEEE463
KCNF1-------------------------G-KT->G<GS-----RS-D-LD-----NLP---PEPAG458
KCNG1-------------------------S-Q-->-<-D-----SD-I-LFGSAS--SD---TRDN-512
KCNG2-------------------------T-E-->-<-D-----SS-Q-GPDSAGLADD---SADAL460
KCNG3-------------------------F-L-->-<------------------------------435
KCNG4-------------------------H-V-->-<-A-----SE-H-EL-----MND---VNDLI508
KCNS1------------------------GV-S-->E<AS-----LE-T-SR-----ETS---QEGQS509
KCNS2-------------------------L-R-->D<YY-----AH-K-VK-----SLM---ASLTN461
KCNS3-------------------------I-R-->D<IY-----AQ-R-MH-----TFI---TSLSS457
KCNV1-------------------------L-R-->D<VY-----AR-S-IM-----EML-----RLK483
KCNV2------------------------KI-A-->E<CL-----LG-S-NP-----QLT---PRQE-544
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A399Sc.1195G>T Putative BenignSIFT: tolerated
Polyphen: benign
p.Ala399Glyc.1196C>G UnknownSIFT:
Polyphen: