Paralogue Annotation for KCNQ1 residue 526

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 526
Reference Amino Acid: K - Lysine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 526

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNQ2K552TEpileptic encephalopathy, neonatalMedium2 24107868

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-----------IRRMQ----------YFVA>K<KKFQQARKPYDVRDVIEQYSQGHLNLMVRI556
KCNQ2-----------VCVMR----------FLVS>K<RKFKESLRPYDVMDVIEQYSAGHLDMLSRI582
KCNQ3-----------VRILQ----------FRLY>K<KKFKETLRPYDVKDVIEQYSAGHLDMLSRI561
KCNQ4-----------IRILK----------FLVA>K<RKFKETLRPYDVKDVIEQYSAGHLDMLGRI576
KCNQ5-----------IRIMK----------FHVA>K<RKFKETLRPYDVKDVIEQYSAGHLDMLCRI564
KCNA1-----------KSKLL----------TD-->-<------------------------------494
KCNA10-----------CSTEK----------SR-->-<------------------------------510
KCNA2-----------ITKML----------TD-->-<------------------------------498
KCNA3-----------IKKIF----------TD-->-<------------------------------574
KCNA4-----------AKAVE----------TD-->-<------------------------------652
KCNA5-----------LRRSLYALCLDTSRETD-->-<------------------------------612
KCNA6-----------EKRML----------TE-->-<------------------------------528
KCNA7-----------GKHLV----------TE-->-<------------------------------455
KCNB1-----------KVNFM----------EG-->-<----DPSPLLPVLGMYHDPLRNRGSAAAAV705
KCNB2-----------KVNFK----------ENRG>S<APQTPPSTARPLPVTTADFSLTTPQHISTI755
KCNC1-----------P-CFL----------LSTG>E<YACPPGGGMRK----------DLCKESP--571
KCNC2-----------ETCFL----------LTTG>D<YTCASDGGIRKG----YEKSRSLNNIAGLA608
KCNC3-----------RACFL----------LT-->D<YAPSPDGSIRKATGAPPLPPQDWRKPGPPS742
KCNC4-----------AACFL----------LSTG>D<YACA-DGSVRKG----TFVLRDLPLQHSP-620
KCND1LANSTASVS-RGSMQE----------LDML>A<--GLRRSHAPQSRSSLNAKPHDSLDLNCDS591
KCND2IPNANVSGSHQGSIQE----------LSTI>Q<IRCVERTPLSNSRSSLNAKMEECVKLNCEQ590
KCND3LPNSNLPATRLRSMQE----------LSTI>H<IQGSEQPSLTTSRSSLNLKADDGLRPNCKT607
KCNF1------------------------------>-<------------------------------
KCNG1------------------------------>-<------------------------------
KCNG2------------------------------>-<------------------------------
KCNG3------------------------------>-<------------------------------
KCNG4------------------------------>-<------------------------------
KCNS1------------------------------>-<------------------------------
KCNS2------------------------------>-<------------------------------
KCNS3------------------------------>-<------------------------------
KCNV1------------------------------>-<------------------------------
KCNV2------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.K526Ec.1576A>G Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably 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
Inherited ArrhythmiaLQTS High prevalence of genetic variants previously associated with LQT syndrome in new exome data. Eur J Hum Genet. 2012 20(8):905-8. doi: 10.1038/ejhg.2012.23. 22378279
Unknown Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381
p.K526Qc.1576A>C Putative BenignSIFT:
Polyphen: