Paralogue Annotation for KCNQ1 residue 533

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 533
Reference Amino Acid: R - Arginine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 533

No paralogue variants have been mapped to residue 533 for KCNQ1.



KCNQ1----IRRMQ----------YFVAKKKFQQA>R<KPYDVRDVIEQYSQGHLNLMVRIKELQRRL563
KCNQ2----VCVMR----------FLVSKRKFKES>L<RPYDVMDVIEQYSAGHLDMLSRIKSLQSRV589
KCNQ3----VRILQ----------FRLYKKKFKET>L<RPYDVKDVIEQYSAGHLDMLSRIKYLQTRI568
KCNQ4----IRILK----------FLVAKRKFKET>L<RPYDVKDVIEQYSAGHLDMLGRIKSLQTRV583
KCNQ5----IRIMK----------FHVAKRKFKET>L<RPYDVKDVIEQYSAGHLDMLCRIKSLQTRV571
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-------DP>S<PLLPVLGMYHDPLRNRGSAAAAVAGLECA-711
KCNB2----KVNFK----------ENRGSAPQTPP>S<TARPLPVTTADFSLTTPQHISTILLEETP-761
KCNC1----P-CFL----------LSTGEYACPPG>G<GMRK----------DLCKESP---VIAKY-576
KCNC2----ETCFL----------LTTGDYTCASD>G<GIRKG----YEKSRSLNNIAGLAGNALRL-614
KCNC3----RACFL----------LT--DYAPSPD>G<SIRKATGAPPLPPQDWRKPGPPS-FLPDL-747
KCNC4----AACFL----------LSTGDYACA-D>G<SVRKG----TFVLRDLPLQHSP---EAAC-624
KCND1VS-RGSMQE----------LDMLA--GLRR>S<HAPQSRSSLNAKPHDSLDLNCDSRDFVAA-597
KCND2GSHQGSIQE----------LSTIQIRCVER>T<PLSNSRSSLNAKMEECVKLNCEQPYVTTA-596
KCND3ATRLRSMQE----------LSTIHIQGSEQ>P<SLTTSRSSLNLKADDGLRPNCKTSQITTA-613
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.R533Wc.1597C>T Inherited ArrhythmiaLQTSrs199472793SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Novel mutations in KvLQT1 that affect Iks activation through interactions with Isk. Cardiovasc Res. 2000 45(4):971-80. 10728423
Inherited 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.R533Qc.1598G>A Putative BenignSIFT: tolerated
Polyphen: possibly damaging