Paralogue Annotation for KCNQ1 residue 532

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 532
Reference Amino Acid: A - Alanine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 532

No paralogue variants have been mapped to residue 532 for KCNQ1.



KCNQ1-----IRRMQ----------YFVAKKKFQQ>A<RKPYDVRDVIEQYSQGHLNLMVRIKELQRR562
KCNQ2-----VCVMR----------FLVSKRKFKE>S<LRPYDVMDVIEQYSAGHLDMLSRIKSLQSR588
KCNQ3-----VRILQ----------FRLYKKKFKE>T<LRPYDVKDVIEQYSAGHLDMLSRIKYLQTR567
KCNQ4-----IRILK----------FLVAKRKFKE>T<LRPYDVKDVIEQYSAGHLDMLGRIKSLQTR582
KCNQ5-----IRIMK----------FHVAKRKFKE>T<LRPYDVKDVIEQYSAGHLDMLCRIKSLQTR570
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-------D>P<SPLLPVLGMYHDPLRNRGSAAAAVAGLECA711
KCNB2-----KVNFK----------ENRGSAPQTP>P<STARPLPVTTADFSLTTPQHISTILLEETP761
KCNC1-----P-CFL----------LSTGEYACPP>G<GGMRK----------DLCKESP---VIAKY576
KCNC2-----ETCFL----------LTTGDYTCAS>D<GGIRKG----YEKSRSLNNIAGLAGNALRL614
KCNC3-----RACFL----------LT--DYAPSP>D<GSIRKATGAPPLPPQDWRKPGPPS-FLPDL747
KCNC4-----AACFL----------LSTGDYACA->D<GSVRKG----TFVLRDLPLQHSP---EAAC624
KCND1SVS-RGSMQE----------LDMLA--GLR>R<SHAPQSRSSLNAKPHDSLDLNCDSRDFVAA597
KCND2SGSHQGSIQE----------LSTIQIRCVE>R<TPLSNSRSSLNAKMEECVKLNCEQPYVTTA596
KCND3PATRLRSMQE----------LSTIHIQGSE>Q<PSLTTSRSSLNLKADDGLRPNCKTSQITTA613
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.A532Ec.1595C>A Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. Eur J Hum Genet. 2016 24(8):1160-6. doi: 10.1038/ejhg.2015.257. 26669661