Paralogue Annotation for KCNQ1 residue 642

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 642
Reference Amino Acid: C - Cysteine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 642

No paralogue variants have been mapped to residue 642 for KCNQ1.



KCNQ1----TPGSGGPPREGG--------AHITQP>C<GSGGS-------------------------647
KCNQ2EPEPAPPYHSPEDSREH---VDRHGCIVKI>V<RSSSSTGQ------------------K---699
KCNQ3-YYPTKGTSSPAEAEK--KEDNRYSDLKTI>I<CNYSETGPPEPP------------------696
KCNQ4DPDITSDYHSPVDHEDISVSAQTL-SISRS>V<STNM--------------------------694
KCNQ5ECEQTSDYQSPVDSKDLSGSAQNSGCLSRS>T<SANISRGLQFILTPNEFSAQTFYALSP---707
KCNA1------------------------------>-<------------------------------
KCNA10------------------------------>-<------------------------------
KCNA2------------------------------>-<------------------------------
KCNA3------------------------------>-<------------------------------
KCNA4------------------------------>-<------------------------------
KCNA5------------------------------>-<------------------------------
KCNA6------------------------------>-<------------------------------
KCNA7------------------------------>-<------------------------------
KCNB1-------------------TLLDK------>-<-----------AVLSPESSIYTTASAKTPP735
KCNB2-------------------SQGDR------>-<-----------PLLGTEVSAPCQGPSKGLS785
KCNC1------------------------------>-<------------------------------
KCNC2------------------------------>-<------------------------------
KCNC3------------------------------>-<------------------------------
KCNC4------------------------------>-<------------------------------
KCND1------------------------------>-<------------------------------
KCND2------------------------------>-<------------------------------
KCND3------------------------------>-<------------------------------
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.C642Fc.1925G>T UnknownSIFT:
Polyphen:
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.Cys642Trpc.1926C>G UnknownSIFT:
Polyphen: