Paralogue Annotation for KCNQ1 residue 517

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 517
Reference Amino Acid: I - Isoleucine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 517

No paralogue variants have been mapped to residue 517 for KCNQ1.



KCNQ1ISQLREHHRATIKV---------------->I<RRMQ----------YFVAKKKFQQARKPYD537
KCNQ2TEDLTPGLKVSIRA---------------->V<CVMR----------FLVSKRKFKESLRPYD563
KCNQ3IEDMIPTLKAAIRA---------------->V<RILQ----------FRLYKKKFKETLRPYD542
KCNQ4VDDIMPAVKTVIRS---------------->I<RILK----------FLVAKRKFKETLRPYD557
KCNQ5VEDLTPPLKTVIRA---------------->I<RIMK----------FHVAKRKFKETLRPYD545
KCNA1--CTTAN--QNCVN---------------->K<SKLL----------TD--------------494
KCNA10-------------G---------------->C<STEK----------SR--------------510
KCNA2--CTLAN--TNYVN---------------->I<TKML----------TD--------------498
KCNA3--CTTNNNPNSCVN---------------->I<KKIF----------TD--------------574
KCNA4--SETDK--NNCSN---------------->A<KAVE----------TD--------------652
KCNA5------------------------------>L<RRSLYALCLDTSRETD--------------612
KCNA6---P-----HRAYA---------------->E<KRML----------TE--------------528
KCNA7---------LWAPP---------------->G<KHLV----------TE--------------455
KCNB1SSMKTNNPLKLRAL---------------->K<VNFM----------EG-------DPSPLLP686
KCNB2SSLKGSNPLKSRSL---------------->K<VNFK----------ENRGSAPQTPPSTARP736
KCNC1PFTRSGTRERY--G---------------->P<-CFL----------LSTGEYACPPGGGMRK564
KCNC2PIRRSSTRDKNRRG---------------->E<TCFL----------LTTGDYTCASDGGIRK593
KCNC3PIT-PGSRGRYSRD---------------->R<ACFL----------LT--DYAPSPDGSIRK723
KCNC4ALRRSTTRDRNKKA---------------->A<ACFL----------LSTGDYACA-DGSVRK606
KCND1PGSLLSSCCPRRAKRRAIRLANSTASVS-R>G<SMQE----------LDMLA--GLRRSHAPQ572
KCND2--GVTSTCCSRRHKK-TFRIPNANVSGSHQ>G<SIQE----------LSTIQIRCVERTPLSN571
KCND3--GLTTTCCSRRSKK-TTHLPNSNLPATRL>R<SMQE----------LSTIHIQGSEQPSLTT588
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.I517Tc.1550T>C Inherited ArrhythmiaLQTSrs199473478SIFT: deleterious
Polyphen: possibly damaging
ReportsInherited ArrhythmiaLQTS Additional gene variants reduce effectiveness of beta-blockers in the LQT1 form of long QT syndrome. J Cardiovasc Electrophysiol. 2004 15(2):190-9. 15028050
Inherited ArrhythmiaLQTS Mutation site-specific differences in arrhythmic risk and sensitivity to sympathetic stimulation in the LQT1 form of congenital long QT syndrome: multicenter study in Japan. J Am Coll Cardiol. 2004 44(1):117-25. 15234419
Inherited ArrhythmiaLQTS Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene. Circulation. 2007 115(19):2481-9. 17470695