Paralogue Annotation for KCNQ1 residue 554

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 554
Reference Amino Acid: V - Valine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 554

No paralogue variants have been mapped to residue 554 for KCNQ1.



KCNQ1VAKKKFQQARKPYDVRDVIEQYSQGHLNLM>V<RIKELQRRLDQSIGKPSLFIS---------575
KCNQ2VSKRKFKESLRPYDVMDVIEQYSAGHLDML>S<RIKSLQSRVDQIVGRGPAITD--KDR--T-605
KCNQ3LYKKKFKETLRPYDVKDVIEQYSAGHLDML>S<RIKYLQTRIDMIFTPGPPSTP--KHKKSQK587
KCNQ4VAKRKFKETLRPYDVKDVIEQYSAGHLDML>G<RIKSLQTRVDQIVGRGPGDRKAREKG--D-601
KCNQ5VAKRKFKETLRPYDVKDVIEQYSAGHLDML>C<RIKSLQTRVDQILGKGQITSD-KKSR--E-588
KCNA1------------------------------>-<------------------------------
KCNA10------------------------------>-<------------------------------
KCNA2------------------------------>-<------------------------------
KCNA3------------------------------>-<------------------------------
KCNA4------------------------------>-<------------------------------
KCNA5------------------------------>-<------------------------------
KCNA6------------------------------>-<------------------------------
KCNA7------------------------------>-<------------------------------
KCNB1-------DPSPLLPVLGMYHDPLRNRGSAA>A<AVAGLECA----------------------711
KCNB2RGSAPQTPPSTARPLPVTTADFSLTTPQHI>S<TILLEETP----------------------761
KCNC1TGEYACPPGGGMRK----------DLCKES>P<---VIAKY----------------------576
KCNC2TGDYTCASDGGIRKG----YEKSRSLNNIA>G<LAGNALRL----------------------614
KCNC3--DYAPSPDGSIRKATGAPPLPPQDWRKPG>P<PS-FLPDL----------------------747
KCNC4TGDYACA-DGSVRKG----TFVLRDLPLQH>S<P---EAAC----------------------624
KCND1MLA--GLRRSHAPQSRSSLNAKPHDSLDLN>C<DSRDFVAA----------------------597
KCND2TIQIRCVERTPLSNSRSSLNAKMEECVKLN>C<EQPYVTTA----------------------596
KCND3TIHIQGSEQPSLTTSRSSLNLKADDGLRPN>C<KTSQITTA----------------------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.V554Ac.1661T>C Inherited ArrhythmiaLQTSrs199473481SIFT: tolerated
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.Val554Metc.1660G>A UnknownSIFT:
Polyphen: