Paralogue Annotation for KCNQ1 residue 541

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 541
Reference Amino Acid: V - Valine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 541

No paralogue variants have been mapped to residue 541 for KCNQ1.



KCNQ1Q----------YFVAKKKFQQARKPYDVRD>V<IEQYSQGHLNLMVRIKELQRRLDQSIGKPS571
KCNQ2R----------FLVSKRKFKESLRPYDVMD>V<IEQYSAGHLDMLSRIKSLQSRVDQIVGRGP597
KCNQ3Q----------FRLYKKKFKETLRPYDVKD>V<IEQYSAGHLDMLSRIKYLQTRIDMIFTPGP576
KCNQ4K----------FLVAKRKFKETLRPYDVKD>V<IEQYSAGHLDMLGRIKSLQTRVDQIVGRGP591
KCNQ5K----------FHVAKRKFKETLRPYDVKD>V<IEQYSAGHLDMLCRIKSLQTRVDQILGKGQ579
KCNA1L----------TD----------------->-<------------------------------494
KCNA10K----------SR----------------->-<------------------------------510
KCNA2L----------TD----------------->-<------------------------------498
KCNA3F----------TD----------------->-<------------------------------574
KCNA4E----------TD----------------->-<------------------------------652
KCNA5LYALCLDTSRETD----------------->-<------------------------------612
KCNA6L----------TE----------------->-<------------------------------528
KCNA7V----------TE----------------->-<------------------------------455
KCNB1M----------EG-------DPSPLLPVLG>M<YHDPLRNRGSAAAAVAGLECA---------711
KCNB2K----------ENRGSAPQTPPSTARPLPV>T<TADFSLTTPQHISTILLEETP---------761
KCNC1L----------LSTGEYACPPGGGMRK--->-<------DLCKESP---VIAKY---------576
KCNC2L----------LTTGDYTCASDGGIRKG-->-<-YEKSRSLNNIAGLAGNALRL---------614
KCNC3L----------LT--DYAPSPDGSIRKATG>A<PPLPPQDWRKPGPPS-FLPDL---------747
KCNC4L----------LSTGDYACA-DGSVRKG-->-<-TFVLRDLPLQHSP---EAAC---------624
KCND1E----------LDMLA--GLRRSHAPQSRS>S<LNAKPHDSLDLNCDSRDFVAA---------597
KCND2E----------LSTIQIRCVERTPLSNSRS>S<LNAKMEECVKLNCEQPYVTTA---------596
KCND3E----------LSTIHIQGSEQPSLTTSRS>S<LNLKADDGLRPNCKTSQITTA---------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.V541Ic.1621G>A Inherited ArrhythmiaLQTSrs199472796SIFT: deleterious
Polyphen: probably 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