Paralogue Annotation for KCNQ1 residue 513

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 513
Reference Amino Acid: T - Threonine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 513

No paralogue variants have been mapped to residue 513 for KCNQ1.



KCNQ1-------------LLTPITHISQLREHHRA>T<IKV----------------IRRMQ------521
KCNQ2-------------SCPCEFVTEDLTPGLKV>S<IRA----------------VCVMR------547
KCNQ3-------------GYGNDFPIEDMIPTLKA>A<IRA----------------VRILQ------526
KCNQ4-------------SYQCELTVDDIMPAVKT>V<IRS----------------IRILK------541
KCNQ5-------------GCQCDVSVEDLTPPLKT>V<IRA----------------IRIMK------529
KCNA1---------------TAN----CTTAN--Q>N<CVN----------------KSKLL------492
KCNA10------------------------------>-<--G----------------CSTEK------508
KCNA2---------------TAN----CTLAN--T>N<YVN----------------ITKML------496
KCNA3---------------TAT----CTTNNNPN>S<CVN----------------IKKIF------572
KCNA4---------------GDD----SETDK--N>N<CSN----------------AKAVE------650
KCNA5------------------------------>-<-------------------LRRSLYALCLD606
KCNA6-----------------------P-----H>R<AYA----------------EKRML------526
KCNA7-----------------------------L>W<APP----------------GKHLV------453
KCNB1---PSPDASQHSSFFIESPKSSMKTNNPLK>L<RAL----------------KVNFM------677
KCNB2GSQCGLHSPLQSDNATDSPKSSLKGSNPLK>S<RSL----------------KVNFK------720
KCNC1-------------LTPDEGLPFTRSGTRER>Y<--G----------------P-CFL------548
KCNC2-------------LSPPERLPIRRSSTRDK>N<RRG----------------ETCFL------577
KCNC3-------------MSPEDKSPIT-PGSRGR>Y<SRD----------------RACFL------709
KCNC4-------------PTPEERRALRRSTTRDR>N<KKA----------------AACFL------591
KCND1-------------VSSQPVGPGSLLSSCCP>R<RAKRRAIRLANSTASVS-RGSMQE------558
KCND2-------------LSSQQ----GVTSTCCS>R<RHKK-TFRIPNANVSGSHQGSIQE------555
KCND3-------------LSSHP----GLTTTCCS>R<RSKK-TTHLPNSNLPATRLRSMQE------572
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.T513Sc.1537A>T Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. Genet Test Mol Biomarkers. 2013 17(7):553-61. doi: 10.1089/gtmb.2012.0118. 23631430