Paralogue Annotation for KCNQ1 residue 422

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 422
Reference Amino Acid: K - Lysine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 422

No paralogue variants have been mapped to residue 422 for KCNQ1.



KCNQ1------------TLLSPSPKPKKSVVVKKK>K<FKLDKDNGV-------------------TP433
KCNQ2-SKG--SP-CRGPLCGCCPGRSSQKVSLKD>R<V-FSSPRGV-------------------AA452
KCNQ3--------------KEQLEAASSQKLGLLD>R<VRLSNPRGS-------------------NT440
KCNQ4-SRYPPVATCHRPGSTSFCPGESSRMGIKD>R<IRMGSSQRR-------------------TG450
KCNQ5------LHTCSPTKKEQGEASSSQKLSFKE>R<VRMASPRGQ-------------------SI435
KCNA1-NIR-------------------------->-<------------------------------474
KCNA10------------------------------>-<------------------------------
KCNA2-NLK-------------------------->-<------------------------------478
KCNA3-N-S-------------------------->-<------------------------------552
KCNA4CQGK-------------------------->-<------------------------------632
KCNA5------------------------------>-<------------------------------
KCNA6------------------------------>-<------------------------------
KCNA7-P---------------------------->-<------------------------------443
KCNB1NKWKW-----------------------TK>R<TLSETSSSK-------------------SF504
KCNB2SRWKW-----------------------AR>K<ALSETSSNK-------------------SF508
KCNC1ANED-------------------------->-<------------------------------518
KCNC2SGDD-------------------------->-<------------------------------544
KCNC3AHED-------------------------->-<------------------------------676
KCNC4SDEE-------------------------->-<------------------------------554
KCND1CLEKT------------------------->-<--------T-------------------CH491
KCND2CLEKT------------------------->-<--------T-------------------NH491
KCND3CLEKT------------------------->-<--------TGLSYLVDDPLLSVRTSTIKNH508
KCNF1SDTF-------------------------->-<---IPLLTE---------------------482
KCNG1------------------------------>-<------------------------------
KCNG2------------------------------>-<------------------------------
KCNG3------------------------------>-<------------------------------
KCNG4------------------------------>-<------------------------------
KCNS1------------------------------>-<------------------------------
KCNS2------------------------------>-<------------------------------
KCNS3NEDI-------------------------->-<---CNTTSL-------------------EN487
KCNV1------------------------------>-<---W--------------------------499
KCNV2------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.K422Tc.1265A>C Inherited ArrhythmiaLQTSrs199472778SIFT: tolerated
Polyphen: possibly damaging
ReportsInherited ArrhythmiaLQTS Long QT syndrome with compound mutations is associated with a more severe phenotype: a Japanese multicenter study. Heart Rhythm. 2010 7(10):1411-8. 20541041
Inherited ArrhythmiaLQTS Slow delayed rectifier potassium current blockade contributes importantly to drug-induced long QT syndrome. Circ Arrhythm Electrophysiol. 2013 6(5):1002-9. doi: 10.1161/CIRCEP.113.000239. 23995305
p.K422Rc.1265A>G UnknownSIFT: tolerated
Polyphen: benign