Paralogue Annotation for KCNQ1 residue 391

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 391
Reference Amino Acid: T - Threonine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 391

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNQ2T359KEpilepsy, benign neonatalMedium1 19559753

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in KCNQ1.



KCNQ1-----------------------------S>T<WKI-YIRK-A--PRSH--------------403
KCNQ2-----------------------------S>T<WQY-YERT-VTVPMYSS--QT-QTY-----379
KCNQ3-----------------------------A>T<WRF-YESV-VSFPFFR--------------412
KCNQ4-----------------------------A>T<WYY-YDSI-L--PSFRELALL-FEH-----385
KCNQ5-----------------------------A>T<WK----------PHLK--------------398
KCNA1------------------------------>-<---DL-SR--RS-----SS-T-MS------450
KCNA10------------------------------>-<----L--N--SV-----GS-R-MG------492
KCNA2------------------------------>-<--DLK-KS--RS-----AS-T-IS------454
KCNA3------------------------------>-<--ELR-KA--RS-----NS-T-LS------525
KCNA4------------------------------>-<--KFR-SS--TS-----SS-L-GD------607
KCNA5---------KVSG-SRGSFCKAGG------>T<--LEN--A--DS----ARR-G-SC------581
KCNA6----------------------QP------>A<--PDL--R--AT-----DN-G-LG------497
KCNA7------------------------------>G<--PLE--G--KA-----NG-G-LV------433
KCNB1------------------------------>-<----M-K--DAF-----AR-S-IE-----M460
KCNB2------------------------------>-<----L-K--DAF-----AR-S-ME-----L464
KCNC1-----------------------------V>N<SPHHS-TQ--SD-----TC-P-LA------491
KCNC2-----------------------------L>N<MACNS-TQ--SD-----TC-L-GK------528
KCNC3MGVTVAGAYPAGPHTHPGLLRGGAGGLGIM>G<LPPLP-AP--GE-----PC-P-LA------649
KCNC4-----------------------------E>T<SPRDS-TC--SD-----TS-PPAR------528
KCND1------------------------------>-<----F-LQYKQN-----GG-L-ED-----S458
KCND2------------------------------>-<----Y-MQSKRN-----GL-L-SN-----Q456
KCND3------------------------------>-<----Y-LHSKRN-----GL-L-NE-----A453
KCNF1------------------------------>-<----G-KT-GGS-----RS-D-LD-----N451
KCNG1------------------------------>-<----S-Q----D-----SD-I-LFGSAS--506
KCNG2------------------------------>-<----T-E----D-----SS-Q-GPDSAGLA453
KCNG3------------------------------>-<----F-L-----------------------435
KCNG4------------------------------>-<----H-V----A-----SE-H-EL-----M501
KCNS1------------------------------>-<---GV-S--EAS-----LE-T-SR-----E502
KCNS2------------------------------>-<----L-R--DYY-----AH-K-VK-----S454
KCNS3------------------------------>-<----I-R--DIY-----AQ-R-MH-----T450
KCNV1------------------------------>-<----L-R--DVY-----AR-S-IM-----E478
KCNV2------------------------------>-<---KI-A--ECL-----LG-S-NP-----Q538
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.T391Ic.1172C>T Inherited ArrhythmiaLQTSrs199473474SIFT: deleterious
Polyphen: possibly 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 Compound mutations: a common cause of severe long-QT syndrome. Circulation. 2004 109(15):1834-41. 15051636
Inherited ArrhythmiaLQTS Cellular mechanisms underlying the increased disease severity seen for patients with long QT syndrome caused by compound mutations in KCNQ1. Biochem J. 2014 462(1):133-42. doi: 10.1042/BJ20140425. 24912595