Paralogue Annotation for KCNQ1 residue 518

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 518
Reference Amino Acid: R - Arginine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 518

No paralogue variants have been mapped to residue 518 for KCNQ1.



KCNQ1SQLREHHRATIKV----------------I>R<RMQ----------YFVAKKKFQQARKPYDV538
KCNQ2EDLTPGLKVSIRA----------------V>C<VMR----------FLVSKRKFKESLRPYDV564
KCNQ3EDMIPTLKAAIRA----------------V>R<ILQ----------FRLYKKKFKETLRPYDV543
KCNQ4DDIMPAVKTVIRS----------------I>R<ILK----------FLVAKRKFKETLRPYDV558
KCNQ5EDLTPPLKTVIRA----------------I>R<IMK----------FHVAKRKFKETLRPYDV546
KCNA1-CTTAN--QNCVN----------------K>S<KLL----------TD---------------494
KCNA10------------G----------------C>S<TEK----------SR---------------510
KCNA2-CTLAN--TNYVN----------------I>T<KML----------TD---------------498
KCNA3-CTTNNNPNSCVN----------------I>K<KIF----------TD---------------574
KCNA4-SETDK--NNCSN----------------A>K<AVE----------TD---------------652
KCNA5-----------------------------L>R<RSLYALCLDTSRETD---------------612
KCNA6--P-----HRAYA----------------E>K<RML----------TE---------------528
KCNA7--------LWAPP----------------G>K<HLV----------TE---------------455
KCNB1SMKTNNPLKLRAL----------------K>V<NFM----------EG-------DPSPLLPV687
KCNB2SLKGSNPLKSRSL----------------K>V<NFK----------ENRGSAPQTPPSTARPL737
KCNC1FTRSGTRERY--G----------------P>-<CFL----------LSTGEYACPPGGGMRK-564
KCNC2IRRSSTRDKNRRG----------------E>T<CFL----------LTTGDYTCASDGGIRKG594
KCNC3IT-PGSRGRYSRD----------------R>A<CFL----------LT--DYAPSPDGSIRKA724
KCNC4LRRSTTRDRNKKA----------------A>A<CFL----------LSTGDYACA-DGSVRKG607
KCND1GSLLSSCCPRRAKRRAIRLANSTASVS-RG>S<MQE----------LDMLA--GLRRSHAPQS573
KCND2-GVTSTCCSRRHKK-TFRIPNANVSGSHQG>S<IQE----------LSTIQIRCVERTPLSNS572
KCND3-GLTTTCCSRRSKK-TTHLPNSNLPATRLR>S<MQE----------LSTIHIQGSEQPSLTTS589
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.R518Gc.1552C>G Inherited ArrhythmiaLQTSrs17215500SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA. 2005 294(23):2975-80. 16414944
p.R518Pc.1553G>C Inherited ArrhythmiaLQTSrs145974930SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA. 2005 294(23):2975-80. 16414944
Inherited ArrhythmiaLQTS RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. Science. 2015 347(6218):1254806. doi: 10.1126/science.1254806. 25525159
p.R518Qc.1553G>A Inherited ArrhythmiaLQTSrs145974930SIFT: tolerated
Polyphen: possibly damaging
ReportsInherited 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
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
Inherited ArrhythmiaLQTS Rare genetic variants previously associated with congenital forms of long QT syndrome have little or no effect on the QT interval. Eur Heart J. 2015 36(37):2523-9. doi: 10.1093/eurheartj/ehv297. 26159999