Paralogue Annotation for KCNQ1 residue 389

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 389
Reference Amino Acid: S - Serine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 389

No paralogue variants have been mapped to residue 389 for KCNQ1.



KCNQ1AASLI-QTAWRCY---A-A-ENPD------>S<------------------------------389
KCNQ2AAGLI-QSAWRFY---A-T-NLSRTD---L>H<------------------------------357
KCNQ3AAELI-QAAWRYY---A-T-NPNRID---L>V<------------------------------396
KCNQ4AANLI-QAAWRLY---S-T-DMSRAY---L>T<------------------------------363
KCNQ5AANLI-QCVWRSY---A-A-DE-KSV---S>I<------------------------------390
KCNA1--VS--SP-NLAS---D-S----------->-<------------------------------439
KCNA10RI---------------------------->-<------------------------------483
KCNA2--VT--SCPKIPS---S-P----------->-<------------------------------442
KCNA3--VG--SCQHLSS-S-A-E----------->-<------------------------------513
KCNA4--NAV-SCPYLPS-N-LLK----------->-<------------------------------595
KCNA5QGTQS-QGPGLDR-G-V-Q-R--------->-<------------------------------554
KCNA6-----------TC-G--------------->-<------------------------------483
KCNA7-----------DM-Q-P-C----------->-<------------------------------421
KCNB1LERA--KRNG---SIVS-M-N--------->-<------------------------------449
KCNB2LERA--KRNG---SIVS-M-N--------->-<------------------------------453
KCNC1HIPR--PPQLGSP---N-YCK---S----->V<------------------------------475
KCNC2HIPP--APQASSP---T-FCK---T----->E<------------------------------512
KCNC3HIPR--PPQPGSP---N-YCK---PDPPPP>P<PPHPHHGSGGISPPPPITPPSMGVTVAGAY613
KCNC4HVPR--PAQLESP---M-YCK---S----->E<------------------------------511
KCND1RLARIRLAKSGTT---N---A--------->-<------------------------------445
KCND2RLARIRAAKSGSA---N---A--------->-<------------------------------443
KCND3RLARIRVAKTGSS---N---A--------->-<------------------------------440
KCNF1LMEL--N------SSSG-G-E--------->-<------------------------------439
KCNG1QFLI----K-TKSQLSV------------->-<------------------------------494
KCNG2ALQE----D-STHSATA------------->-<------------------------------439
KCNG3------------SLSTE------------->-<------------------------------433
KCNG4HLQN----T-GPASECE-LLD---P----->-<------------------------------492
KCNS1QEFE--D------LLSS-I-D--------->-<------------------------------490
KCNS2GDGM--K------EVPS-V-N--------->-<------------------------------443
KCNS3PEKC--H------ELPY-F-N--------->-<------------------------------439
KCNV1LKKL--TKNIATDSYIS-V-N--------->-<------------------------------467
KCNV2GEVN--F------MQRA-R-K--------->-<------------------------------526
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.S389Pc.1165T>C Inherited ArrhythmiaLQTSrs199472772SIFT: tolerated
Polyphen: probably 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
p.S389Yc.1166C>A Inherited ArrhythmiaLQTSrs199472773SIFT: tolerated
Polyphen: possibly damaging
ReportsInherited 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