Paralogue Annotation for KCNQ1 residue 386

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 386
Reference Amino Acid: N - Asparagine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 386

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNQ2L351VEpilepsy, benign neonatalMedium1 24375629, 26073431
KCNQ2L351FEpilepsy, benign neonatalMedium1 24375629, 26073431

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.



KCNQ1FNRQIPA--AASLI-QTAWRCY---A-A-E>N<PD------S---------------------389
KCNQ2FEKRRNP--AAGLI-QSAWRFY---A-T-N>L<SRTD---LH---------------------357
KCNQ3FEKRRKP--AAELI-QAAWRYY---A-T-N>P<NRID---LV---------------------396
KCNQ4FEKRRMP--AANLI-QAAWRLY---S-T-D>M<SRAY---LT---------------------363
KCNQ5FEKRRNP--AANLI-QCVWRSY---A-A-D>E<-KSV---SI---------------------390
KCNA1QAQLLH-----VS--SP-NLAS---D-S-->-<------------------------------439
KCNA10KQNIPGEIERI------------------->-<------------------------------483
KCNA2QAQYLQ-----VT--SCPKIPS---S-P-->-<------------------------------442
KCNA3QSQYMH-----VG--SCQHLSS-S-A-E-->-<------------------------------513
KCNA4QTQLTQ-----NAV-SCPYLPS-N-LLK-->-<------------------------------595
KCNA5PAVLKEE--QGTQS-QGPGLDR-G-V-Q-R>-<------------------------------554
KCNA6QGQYTHV-------------TC-G------>-<------------------------------483
KCNA7AGMFSHV-------------DM-Q-P-C-->-<------------------------------421
KCNB1AIKRREA--LERA--KRNG---SIVS-M-N>-<------------------------------449
KCNB2AIKRREA--LERA--KRNG---SIVS-M-N>-<------------------------------453
KCNC1LPKKKKK--HIPR--PPQLGSP---N-YCK>-<--S-----V---------------------475
KCNC2LPRKRKK--HIPP--APQASSP---T-FCK>-<--T-----E---------------------512
KCNC3LPKKKNK--HIPR--PPQPGSP---N-YCK>-<--PDPPPPPPPHPHHGSGGISPPPPITPPS604
KCNC4LPKKRKK--HVPR--PAQLESP---M-YCK>-<--S-----E---------------------511
KCND1RRAQQKV--RLARIRLAKSGTT---N---A>-<------------------------------445
KCND2RRAQKKA--RLARIRAAKSGSA---N---A>-<------------------------------443
KCND3RRAQKKA--RLARIRVAKTGSS---N---A>-<------------------------------440
KCNF1AAKHELE--LMEL--N------SSSG-G-E>-<------------------------------439
KCNG1RVMFRRA--QFLI----K-TKSQLSV---->-<------------------------------494
KCNG2RAASPEP--ALQE----D-STHSATA---->-<------------------------------439
KCNG3RYSR-----------------SLSTE---->-<------------------------------433
KCNG4QLQARLR--HLQN----T-GPASECE-LLD>-<--P---------------------------492
KCNS1AVRNSNH--QEFE--D------LLSS-I-D>-<------------------------------490
KCNS2AMRSCDF--GDGM--K------EVPS-V-N>-<------------------------------443
KCNS3DQCSEDA--PEKC--H------ELPY-F-N>-<------------------------------439
KCNV1AVRQREA--LKKL--TKNIATDSYIS-V-N>-<------------------------------467
KCNV2TTIRRER--GEVN--F------MQRA-R-K>-<------------------------------526
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.N386Kc.1158C>A Putative BenignSIFT:
Polyphen: