Paralogue Annotation for KCNQ1 residue 570

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 570
Reference Amino Acid: P - Proline
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 570

No paralogue variants have been mapped to residue 570 for KCNQ1.



KCNQ1DVIEQYSQGHLNLMVRIKELQRRLDQSIGK>P<SLFIS-----------V-------------576
KCNQ2DVIEQYSAGHLDMLSRIKSLQSRVDQIVGR>G<PAITD--KDR--T--KG-------------607
KCNQ3DVIEQYSAGHLDMLSRIKYLQTRIDMIFTP>G<PPSTP--KHKKSQKGSAFTFPSQQSPRNEP603
KCNQ4DVIEQYSAGHLDMLGRIKSLQTRVDQIVGR>G<PGDRKAREKG--D--KG-------------603
KCNQ5DVIEQYSAGHLDMLCRIKSLQTRVDQILGK>G<QITSD-KKSR--E--KI-------------590
KCNA1------------------------------>-<------------------------------
KCNA10------------------------------>-<------------------------------
KCNA2------------------------------>-<------------------------------
KCNA3------------------------------>-<------------------------------
KCNA4------------------------------>-<------------------------------
KCNA5------------------------------>-<------------------------------
KCNA6------------------------------>-<------------------------------
KCNA7------------------------------>-<------------------------------
KCNB1GMYHDPLRNRGSAAAAVAGLECA------->-<------------------------------711
KCNB2VTTADFSLTTPQHISTILLEETP------->-<------------------------------761
KCNC1--------DLCKESP---VIAKY------->-<------------------------------576
KCNC2---YEKSRSLNNIAGLAGNALRL------->-<------------------------------614
KCNC3GAPPLPPQDWRKPGPPS-FLPDL------->-<------------------------------747
KCNC4---TFVLRDLPLQHSP---EAAC------->-<------------------------------624
KCND1SSLNAKPHDSLDLNCDSRDFVAA------->-<------------------------------597
KCND2SSLNAKMEECVKLNCEQPYVTTA------->-<------------------------------596
KCND3SSLNLKADDGLRPNCKTSQITTA------->-<------------------------------613
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.P570Lc.1709C>T Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Vagal reflexes following an exercise stress test: a simple clinical tool for gene-specific risk stratification in the long QT syndrome. J Am Coll Cardiol. 2012 60(24):2515-24. doi: 10.1016/j.jacc.2012.08.1009. 23158531