Paralogue Annotation for KCNQ1 residue 571

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 571
Reference Amino Acid: S - Serine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 571

No paralogue variants have been mapped to residue 571 for KCNQ1.



KCNQ1VIEQYSQGHLNLMVRIKELQRRLDQSIGKP>S<LFIS-----------V--------------576
KCNQ2VIEQYSAGHLDMLSRIKSLQSRVDQIVGRG>P<AITD--KDR--T--KG--------------607
KCNQ3VIEQYSAGHLDMLSRIKYLQTRIDMIFTPG>P<PSTP--KHKKSQKGSAFTFPSQQSPRNEPY604
KCNQ4VIEQYSAGHLDMLGRIKSLQTRVDQIVGRG>P<GDRKAREKG--D--KG--------------603
KCNQ5VIEQYSAGHLDMLCRIKSLQTRVDQILGKG>Q<ITSD-KKSR--E--KI--------------590
KCNA1------------------------------>-<------------------------------
KCNA10------------------------------>-<------------------------------
KCNA2------------------------------>-<------------------------------
KCNA3------------------------------>-<------------------------------
KCNA4------------------------------>-<------------------------------
KCNA5------------------------------>-<------------------------------
KCNA6------------------------------>-<------------------------------
KCNA7------------------------------>-<------------------------------
KCNB1MYHDPLRNRGSAAAAVAGLECA-------->-<------------------------------711
KCNB2TTADFSLTTPQHISTILLEETP-------->-<------------------------------761
KCNC1-------DLCKESP---VIAKY-------->-<------------------------------576
KCNC2--YEKSRSLNNIAGLAGNALRL-------->-<------------------------------614
KCNC3APPLPPQDWRKPGPPS-FLPDL-------->-<------------------------------747
KCNC4--TFVLRDLPLQHSP---EAAC-------->-<------------------------------624
KCND1SLNAKPHDSLDLNCDSRDFVAA-------->-<------------------------------597
KCND2SLNAKMEECVKLNCEQPYVTTA-------->-<------------------------------596
KCND3SLNLKADDGLRPNCKTSQITTA-------->-<------------------------------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.S571Lc.1712C>T Inherited ArrhythmiaLQTSrs199472809SIFT: tolerated
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085
p.S571Pc.1711T>C Putative BenignSIFT:
Polyphen: