Paralogue Annotation for KCNQ1 residue 519

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 519
Reference Amino Acid: R - Arginine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 519

No paralogue variants have been mapped to residue 519 for KCNQ1.



KCNQ1QLREHHRATIKV----------------IR>R<MQ----------YFVAKKKFQQARKPYDVR539
KCNQ2DLTPGLKVSIRA----------------VC>V<MR----------FLVSKRKFKESLRPYDVM565
KCNQ3DMIPTLKAAIRA----------------VR>I<LQ----------FRLYKKKFKETLRPYDVK544
KCNQ4DIMPAVKTVIRS----------------IR>I<LK----------FLVAKRKFKETLRPYDVK559
KCNQ5DLTPPLKTVIRA----------------IR>I<MK----------FHVAKRKFKETLRPYDVK547
KCNA1CTTAN--QNCVN----------------KS>K<LL----------TD----------------494
KCNA10-----------G----------------CS>T<EK----------SR----------------510
KCNA2CTLAN--TNYVN----------------IT>K<ML----------TD----------------498
KCNA3CTTNNNPNSCVN----------------IK>K<IF----------TD----------------574
KCNA4SETDK--NNCSN----------------AK>A<VE----------TD----------------652
KCNA5----------------------------LR>R<SLYALCLDTSRETD----------------612
KCNA6-P-----HRAYA----------------EK>R<ML----------TE----------------528
KCNA7-------LWAPP----------------GK>H<LV----------TE----------------455
KCNB1MKTNNPLKLRAL----------------KV>N<FM----------EG-------DPSPLLPVL688
KCNB2LKGSNPLKSRSL----------------KV>N<FK----------ENRGSAPQTPPSTARPLP738
KCNC1TRSGTRERY--G----------------P->C<FL----------LSTGEYACPPGGGMRK--564
KCNC2RRSSTRDKNRRG----------------ET>C<FL----------LTTGDYTCASDGGIRKG-594
KCNC3T-PGSRGRYSRD----------------RA>C<FL----------LT--DYAPSPDGSIRKAT725
KCNC4RRSTTRDRNKKA----------------AA>C<FL----------LSTGDYACA-DGSVRKG-607
KCND1SLLSSCCPRRAKRRAIRLANSTASVS-RGS>M<QE----------LDMLA--GLRRSHAPQSR574
KCND2GVTSTCCSRRHKK-TFRIPNANVSGSHQGS>I<QE----------LSTIQIRCVERTPLSNSR573
KCND3GLTTTCCSRRSKK-TTHLPNSNLPATRLRS>M<QE----------LSTIHIQGSEQPSLTTSR590
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.R519Cc.1555C>T Inherited ArrhythmiaLQTSrs199472787SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome. J Med Genet. 2003 40(2):141-5. 12566525
p.R519Hc.1556G>A Inherited Arrhythmiars199472788SIFT: tolerated
Polyphen: probably damaging
ReportsPutative Benign Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome. Mayo Clin Proc. 2003 78(12):1479-87. 14661677
Putative Benign Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300
Inherited ArrhythmiaLQTS A Common Mutation of Long QT Syndrome Type 1 in Japan. Circ J. 2015 79(9):2026-30. doi: 10.1253/circj.CJ-15-0342. 26118460