Paralogue Annotation for KCNQ1 residue 390

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 390
Reference Amino Acid: S - Serine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 390

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNQ2S358FEpilepsy, benign neonatalMedium1 25982755

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<TWKI-YIRK-A--PRSH-------------403
KCNQ2------------------------------>S<TWQY-YERT-VTVPMYSS--QT-QTY----379
KCNQ3------------------------------>A<TWRF-YESV-VSFPFFR-------------412
KCNQ4------------------------------>A<TWYY-YDSI-L--PSFRELALL-FEH----385
KCNQ5------------------------------>A<TWK----------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-----459
KCNB2------------------------------>-<-----L-K--DAF-----AR-S-ME-----463
KCNC1------------------------------>V<NSPHHS-TQ--SD-----TC-P-LA-----491
KCNC2------------------------------>L<NMACNS-TQ--SD-----TC-L-GK-----528
KCNC3SMGVTVAGAYPAGPHTHPGLLRGGAGGLGI>M<GLPPLP-AP--GE-----PC-P-LA-----649
KCNC4------------------------------>E<TSPRDS-TC--SD-----TS-PPAR-----528
KCND1------------------------------>-<-----F-LQYKQN-----GG-L-ED-----457
KCND2------------------------------>-<-----Y-MQSKRN-----GL-L-SN-----455
KCND3------------------------------>-<-----Y-LHSKRN-----GL-L-NE-----452
KCNF1------------------------------>-<-----G-KT-GGS-----RS-D-LD-----450
KCNG1------------------------------>-<-----S-Q----D-----SD-I-LFGSAS-506
KCNG2------------------------------>-<-----T-E----D-----SS-Q-GPDSAGL452
KCNG3------------------------------>-<-----F-L----------------------435
KCNG4------------------------------>-<-----H-V----A-----SE-H-EL-----500
KCNS1------------------------------>-<----GV-S--EAS-----LE-T-SR-----501
KCNS2------------------------------>-<-----L-R--DYY-----AH-K-VK-----453
KCNS3------------------------------>-<-----I-R--DIY-----AQ-R-MH-----449
KCNV1------------------------------>-<-----L-R--DVY-----AR-S-IM-----477
KCNV2------------------------------>-<----KI-A--ECL-----LG-S-NP-----537
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

There are currently no reported variants at residue 390 for KCNQ1.