Paralogue Annotation for KCNQ1 residue 500

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 500
Reference Amino Acid: I - Isoleucine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 500

No paralogue variants have been mapped to residue 500 for KCNQ1.



KCNQ1------EGET----------------LLTP>I<THISQLREHHRATIKV--------------516
KCNQ2------VDDK----------------SCPC>E<FVTEDLTPGLKVSIRA--------------542
KCNQ3------AEDR----------------GYGN>D<FPIEDMIPTLKAAIRA--------------521
KCNQ4------AEEK----------------SYQC>E<LTVDDIMPAVKTVIRS--------------536
KCNQ5------YDEK----------------GCQC>D<VSVEDLTPPLKTVIRA--------------524
KCNA1----------------------------TA>N<----CTTAN--QNCVN--------------487
KCNA10------------------------------>-<---------------G--------------503
KCNA2----------------------------TA>N<----CTLAN--TNYVN--------------491
KCNA3----------------------------TA>T<----CTTNNNPNSCVN--------------567
KCNA4----------------------------GD>D<----SETDK--NNCSN--------------645
KCNA5------------------------------>-<------------------------------
KCNA6------------------------------>-<-----P-----HRAYA--------------521
KCNA7------------------------------>-<-----------LWAPP--------------448
KCNB1-RF--VEAN-------PSPDASQHSSFFIE>S<PKSSMKTNNPLKLRAL--------------672
KCNB2YAPVDITVNLDASGSQCGLHSPLQSDNATD>S<PKSSLKGSNPLKSRSL--------------715
KCNC1--------------------------LTPD>E<GLPFTRSGTRERY--G--------------544
KCNC2--------------------------LSPP>E<RLPIRRSSTRDKNRRG--------------572
KCNC3------A-------------------MSPE>D<KSPIT-PGSRGRYSRD--------------704
KCNC4------LASS----------------PTPE>E<RRALRRSTTRDRNKKA--------------586
KCND1------RSTS----------------VSSQ>P<VGPGSLLSSCCPRRAKRRAIRLANSTASVS552
KCND2------HSPS----------------LSSQ>Q<----GVTSTCCSRRHKK-TFRIPNANVSGS548
KCND3------RSPS----------------LSSH>P<----GLTTTCCSRRSKK-TTHLPNSNLPAT565
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.I500Lc.1498A>C Putative Benignrs189794855SIFT: tolerated
Polyphen: benign