Paralogue Annotation for KCNQ1 residue 366

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 366
Reference Amino Acid: R - Arginine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 366

No paralogue variants have been mapped to residue 366 for KCNQ1.



KCNQ1AISFFALPAGILGSGFALKVQQKQRQKHFN>R<QIPA--AASLI-QTAWRCY---A-A-ENPD388
KCNQ2GVSFFALPAGILGSGFALKVQEQHRQKHFE>K<RRNP--AAGLI-QSAWRFY---A-T-NLSR353
KCNQ3GVSFFALPAGILGSGLALKVQEQHRQKHFE>K<RRKP--AAELI-QAAWRYY---A-T-NPNR392
KCNQ4GISFFALPAGILGSGFALKVQEQHRQKHFE>K<RRMP--AANLI-QAAWRLY---S-T-DMSR359
KCNQ5GISFFALPAGILGSGFALKVQEQHRQKHFE>K<RRNP--AANLI-QCVWRSY---A-A-DE-K386
KCNA1GVLTIALPVPVIVSNFNYFYHRETEGEEQA>Q<LLH-----VS--SP-NLAS---D-S-----439
KCNA10GVLTIALPVPVIVSNFNYFYHRETENEEKQ>N<IPGEIERI----------------------483
KCNA2GVLTIALPVPVIVSNFNYFYHRETEGEEQA>Q<YLQ-----VT--SCPKIPS---S-P-----442
KCNA3GVLTIALPVPVIVSNFNYFYHRETEGEEQS>Q<YMH-----VG--SCQHLSS-S-A-E-----513
KCNA4GVLTIALPVPVIVSNFNYFYHRETENEEQT>Q<LTQ-----NAV-SCPYLPS-N-LLK-----595
KCNA5GVLTIALPVPVIVSNFNYFYHRETDHEEPA>V<LKEE--QGTQS-QGPGLDR-G-V-Q-R---554
KCNA6GVLTIALPVPVIVSNFNYFYHRETEQEEQG>Q<YTHV-------------TC-G---------483
KCNA7GVLTISLPVPVIVSNFSYFYHRETEGEEAG>M<FSHV-------------DM-Q-P-C-----421
KCNB1GVLVIALPIPIIVNNFSEFYKEQKRQEKAI>K<RREA--LERA--KRNG---SIVS-M-N---449
KCNB2GVLVIALPIPIIVNNFSEFYKEQKRQEKAI>K<RREA--LERA--KRNG---SIVS-M-N---453
KCNC1GVLTIAMPVPVIVNNFGMYYSLAMAKQKLP>K<KKKK--HIPR--PPQLGSP---N-YCK---473
KCNC2GVLTIAMPVPVIVNNFGMYYSLAMAKQKLP>R<KRKK--HIPP--APQASSP---T-FCK---510
KCNC3GVLTIAMPVPVIVNNFGMYYSLAMAKQKLP>K<KKNK--HIPR--PPQPGSP---N-YCK---576
KCNC4GVLTIAMPVPVIVNNFGMYYSLAMAKQKLP>K<KRKK--HVPR--PAQLESP---M-YCK---509
KCND1GVLVIALPVPVIVSNFSRIYHQNQRADKRR>A<QQKV--RLARIRLAKSGTT---N---A---445
KCND2GVLVIALPVPVIVSNFSRIYHQNQRADKRR>A<QKKA--RLARIRAAKSGSA---N---A---443
KCND3GVLVIALPVPVIVSNFSRIYHQNQRADKRR>A<QKKA--RLARIRVAKTGSS---N---A---440
KCNF1GVIAIALPIHPIINNFVRYYNKQRVLETAA>K<HELE--LMEL--N------SSSG-G-E---439
KCNG1GILLMAFPVTSIFHTFSRSYLELKQEQERV>M<FRRA--QFLI----K-TKSQLSV-------494
KCNG2GILLMAFPVTSIFHTFSRSYSELKEQQQRA>A<SPEP--ALQE----D-STHSATA-------439
KCNG3GIVLLALPITFIYHSFVQCYHELKFRSARY>S<R-----------------SLSTE-------433
KCNG4GILIMAFPATSIFHTFSHSYLELKKEQEQL>Q<ARLR--HLQN----T-GPASECE-LLD---491
KCNS1GILVVALPITIIFNKFSHFYRRQKALEAAV>R<NSNH--QEFE--D------LLSS-I-D---490
KCNS2GILVVVLPITLIFNKFSHFYRRQKQLESAM>R<SCDF--GDGM--K------EVPS-V-N---443
KCNS3GILVVALPITIIFNKFSKYYQKQKDIDVDQ>C<SEDA--PEKC--H------ELPY-F-N---439
KCNV1GILVLALPIAIINDRFSACYFTLKLKEAAV>R<QREA--LKKL--TKNIATDSYIS-V-N---467
KCNV2GIILNGMPISILYNKFSDYYSKLKAYEYTT>I<RRER--GEVN--F------MQRA-R-K---526
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R366Pc.1097G>C Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome. Circulation. 1997 95(3):565-7. 9024139
Inherited ArrhythmiaLQTS Calmodulin is essential for cardiac IKS channel gating and assembly: impaired function in long-QT mutations. Circ Res. 2006 98(8):1055-63. 16556865
p.R366Qc.1097G>A Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation. 2000 102(10):1178-85. 10973849
Inherited ArrhythmiaLQTS Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome. J Cardiovasc Electrophysiol. 2003 14(11):1149-53. 14678125
Inherited 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 PKA and PKC partially rescue long QT type 1 phenotype by restoring channel-PIP2 interactions. Channels (Austin). 2010 4(1):3-11. 19934648
Inherited ArrhythmiaLQTS Abnormal KCNQ1 trafficking influences disease pathogenesis in hereditary long QT syndromes (LQT1). Cardiovasc Res. 2005 67(3):476-86. 15935335
Other Disease Phenotype Comprehensive genetic testing can save lives in hereditary hearing loss. Clin Genet. 2015 87(2):190-1. doi: 10.1111/cge.12376. 24689698
Inherited ArrhythmiaLQTS Follow up of a family with asymptomatic compound long QT syndrome mutations. Genet Couns. 2014 25(4):399-403. 25804018
p.R366Wc.1096C>T Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1. Genomics. 1998 51(1):86-97. 9693036
Inherited ArrhythmiaLQTS High-throughput single-strand conformation polymorphism analysis by automated capillary electrophoresis: robust multiplex analysis and pattern-based identification of allelic variants. Hum Mutat. 1999 13(4):318-27. 10220146
Inherited ArrhythmiaLQTS Automated mutation screening using dideoxy fingerprinting and capillary array electrophoresis. Hum Mutat. 2001 18(5):451-7. 11668638
Inherited ArrhythmiaLQTS Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome. J Cardiovasc Electrophysiol. 2003 14(11):1149-53. 14678125
Inherited ArrhythmiaLQTS Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes. Circulation. 2004 110(15):2119-24. 15466642
Inherited ArrhythmiaLQTS Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476
Inherited ArrhythmiaLQTS Classification of the long-QT syndrome based on discriminant analysis of T-wave morphology. Med Biol Eng Comput. 2006 44(7):543-9. 16937190
Inherited 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 Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300
Inherited ArrhythmiaLQTS A single strand conformation polymorphism/heteroduplex (SSCP/HD) method for detection of mutations in 15 exons of the KVLQT1 gene, associated with long QT syndrome. Clin Chim Acta. 1999 280(1-2):113-25. 10090529
Inherited ArrhythmiaLQTS Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome. Circ Cardiovasc Genet. 2012 5(5):519-28. doi: 10.1161/CIRCGENETICS.112.963785. 22949429
Inherited ArrhythmiaLQTS KCNQ1 long QT syndrome patients have hyperinsulinemia and symptomatic hypoglycemia. Diabetes. 2014 63(4):1315-25. doi: 10.2337/db13-1454. 24357532
Inherited ArrhythmiaLQTS Calmodulin is essential for cardiac IKS channel gating and assembly: impaired function in long-QT mutations. Circ Res. 2006 98(8):1055-63. 16556865
Inherited ArrhythmiaLQTS RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. Science. 2015 347(6218):1254806. doi: 10.1126/science.1254806. 25525159