Paralogue Annotation for KCNQ1 residue 507

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 507
Reference Amino Acid: R - Arginine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 507

No paralogue variants have been mapped to residue 507 for KCNQ1.



KCNQ1GET----------------LLTPITHISQL>R<EHHRATIKV----------------IRRMQ521
KCNQ2DDK----------------SCPCEFVTEDL>T<PGLKVSIRA----------------VCVMR547
KCNQ3EDR----------------GYGNDFPIEDM>I<PTLKAAIRA----------------VRILQ526
KCNQ4EEK----------------SYQCELTVDDI>M<PAVKTVIRS----------------IRILK541
KCNQ5DEK----------------GCQCDVSVEDL>T<PPLKTVIRA----------------IRIMK529
KCNA1---------------------TAN----CT>T<AN--QNCVN----------------KSKLL492
KCNA10------------------------------>-<--------G----------------CSTEK508
KCNA2---------------------TAN----CT>L<AN--TNYVN----------------ITKML496
KCNA3---------------------TAT----CT>T<NNNPNSCVN----------------IKKIF572
KCNA4---------------------GDD----SE>T<DK--NNCSN----------------AKAVE650
KCNA5------------------------------>-<-------------------------LRRSL600
KCNA6-----------------------------P>-<----HRAYA----------------EKRML526
KCNA7------------------------------>-<----LWAPP----------------GKHLV453
KCNB1AN-------PSPDASQHSSFFIESPKSSMK>T<NNPLKLRAL----------------KVNFM677
KCNB2VNLDASGSQCGLHSPLQSDNATDSPKSSLK>G<SNPLKSRSL----------------KVNFK720
KCNC1-------------------LTPDEGLPFTR>S<GTRERY--G----------------P-CFL548
KCNC2-------------------LSPPERLPIRR>S<STRDKNRRG----------------ETCFL577
KCNC3-------------------MSPEDKSPIT->P<GSRGRYSRD----------------RACFL709
KCNC4ASS----------------PTPEERRALRR>S<TTRDRNKKA----------------AACFL591
KCND1STS----------------VSSQPVGPGSL>L<SSCCPRRAKRRAIRLANSTASVS-RGSMQE558
KCND2SPS----------------LSSQQ----GV>T<STCCSRRHKK-TFRIPNANVSGSHQGSIQE555
KCND3SPS----------------LSSHP----GL>T<TTCCSRRSKK-TTHLPNSNLPATRLRSMQE572
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.R507Qc.1520G>A Putative Benignrs369571296SIFT: tolerated
Polyphen: possibly damaging
ReportsUnknown Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510
p.R507Wc.1519C>T Putative BenignSIFT:
Polyphen: