Paralogue Annotation for KCNQ1 residue 600

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 600
Reference Amino Acid: T - Threonine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 600

No paralogue variants have been mapped to residue 600 for KCNQ1.



KCNQ1-------SEKSKDRGSNTIGARLNRVEDKV>T<QLDQRLALITDMLHQLLSLHGGS-------623
KCNQ2-------PAEAELPEDPSMMGRLGKVEKQV>L<SMEKKLDFLVNIYMQRMGIPPTE--TEAYF659
KCNQ3NEPYVARPSTSEI-EDQSMMGKFVKVERQV>Q<DMGKKLDFLVDMHMQHMERLQVQ--VTE--656
KCNQ4-------PSDAEVVDEISMMGRVVKVEKQV>Q<SIEHKLDLLLGFYSRCLRSGTSA--SLGAV655
KCNQ5-------TAEHETTDDLSMLGRVVKVEKQV>Q<SIESKLDCLLDIYQQVLRKGSASALALASF644
KCNA1------------------------------>-<------------------------------
KCNA10------------------------------>-<------------------------------
KCNA2------------------------------>-<------------------------------
KCNA3------------------------------>-<------------------------------
KCNA4------------------------------>-<------------------------------
KCNA5------------------------------>-<------------------------------
KCNA6------------------------------>-<------------------------------
KCNA7------------------------------>-<------------------------------
KCNB1------------------------------>-<------------------------------
KCNB2------------------------------>-<------------------------------
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.T600Mc.1799C>T Inherited ArrhythmiaLQTSrs34516117SIFT: tolerated
Polyphen: possibly 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
Inherited ArrhythmiaLQTS A map of human genome variation from population-scale sequencing. Nature. 2010 467(7319):1061-73. 20981092
Inherited ArrhythmiaLQTS An informatics approach to analyzing the incidentalome. Genet Med. 2013 15(1):36-44. doi: 10.1038/gim.2012.112. 22995991
Inherited ArrhythmiaLQTS Mutations in Genes Encoding Cardiac Ion Channels Previously Associated With Sudden Infant Death Syndrome (SIDS) Are Present With High Frequency in New Exome Data. Can J Cardiol. 2013 23465283
Inherited ArrhythmiaLQTS Actionable, pathogenic incidental findings in 1,000 participants' exomes. Am J Hum Genet. 2013 93(4):631-40. doi: 10.1016/j.ajhg.2013.08.006. 24055113
Unknown Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381