Paralogue Annotation for KCNQ1 residue 573

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 573
Reference Amino Acid: F - Phenylalanine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 573

No paralogue variants have been mapped to residue 573 for KCNQ1.



KCNQ1EQYSQGHLNLMVRIKELQRRLDQSIGKPSL>F<IS-----------V----------------576
KCNQ2EQYSAGHLDMLSRIKSLQSRVDQIVGRGPA>I<TD--KDR--T--KG----------------607
KCNQ3EQYSAGHLDMLSRIKYLQTRIDMIFTPGPP>S<TP--KHKKSQKGSAFTFPSQQSPRNEPYVA606
KCNQ4EQYSAGHLDMLGRIKSLQTRVDQIVGRGPG>D<RKAREKG--D--KG----------------603
KCNQ5EQYSAGHLDMLCRIKSLQTRVDQILGKGQI>T<SD-KKSR--E--KI----------------590
KCNA1------------------------------>-<------------------------------
KCNA10------------------------------>-<------------------------------
KCNA2------------------------------>-<------------------------------
KCNA3------------------------------>-<------------------------------
KCNA4------------------------------>-<------------------------------
KCNA5------------------------------>-<------------------------------
KCNA6------------------------------>-<------------------------------
KCNA7------------------------------>-<------------------------------
KCNB1HDPLRNRGSAAAAVAGLECA---------->-<------------------------------711
KCNB2ADFSLTTPQHISTILLEETP---------->-<------------------------------761
KCNC1-----DLCKESP---VIAKY---------->-<------------------------------576
KCNC2YEKSRSLNNIAGLAGNALRL---------->-<------------------------------614
KCNC3PLPPQDWRKPGPPS-FLPDL---------->-<------------------------------747
KCNC4TFVLRDLPLQHSP---EAAC---------->-<------------------------------624
KCND1NAKPHDSLDLNCDSRDFVAA---------->-<------------------------------597
KCND2NAKMEECVKLNCEQPYVTTA---------->-<------------------------------596
KCND3NLKADDGLRPNCKTSQITTA---------->-<------------------------------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.F573Lc.1719C>A Inherited ArrhythmiaLQTSrs199472810SIFT: tolerated
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA. 2005 294(23):2975-80. 16414944
p.F573Lc.1717T>C 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