Paralogue Annotation for KCNQ1 residue 57

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 57
Reference Amino Acid: G - Glycine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNQ1 residue 57

No paralogue variants have been mapped to residue 57 for KCNQ1.



KCNQ1-----------------A--GGALYAPIAP>G<APGP--------APPASPAAPAAPPVASDL79
KCNQ2-----------------------------A>-<PK---------------RGSILS-------55
KCNQ3------------------------------>-<--DEG-----QR---R----TPQ-------83
KCNQ4---------------------------RRL>G<LLGSP-----L------PPGAPLP------59
KCNQ5---------------------------ATL>G<GGGGG-----LRESRRGKQGARMS------88
KCNA1-------KR-M---RYFDPLRNEYFFDRNR>P<SFDAILYYYQSGGRLRRPVNVPLDMFSEEI117
KCNA10-------KR-M---QFFDSMRNEYFFDRNR>P<SFDGILYYYQSGGKIRRPANVPIDIFADEI166
KCNA2-------KR-M---RYFDPLRNEYFFDRNR>P<SFDAILYYYQSGGRLRRPVNVPLDIFSEEI113
KCNA3-------RR-M---RYFDPLRNEYFFDRNR>P<SFDAILYYYQSGGRIRRPVNVPIDIFSEEI184
KCNA4-------KR-T---QYFDPLRNEYFFDRNR>P<SFDAILYYYQSGGRLKRPVNVPFDIFTEEV256
KCNA5-------KR-L---RYFDPLRNEYFFDRNR>P<SFDGILYYYQSGGRLRRPVNVSLDVFADEI200
KCNA6-------RR-V---RFFDPLRNEYFFDRNR>P<SFDAILYYYQSGGRLRRPVNVPLDIFLEEI121
KCNA7-------RR-G---RFYDDARREYFFDRHR>P<SFDAVLYYYQSGGRLRRPAHVPLDVFLEEV93
KCNB1-------SL-LEVCDDYSLDDNEYFFDRHP>G<AFTSILNFYRT-GRLHMMEEMCALSFSQEL119
KCNB2-------SL-LEVCDDYNLNENEYFFDRHP>G<AFTSILNFYRT-GKLHMMEEMCALSFGQEL123
KCNC1----------S--HFDYDPRADEFFFDRHP>G<VFAHILNYYRT-GKLHCPADVCGPLYEEEL91
KCNC2-------RGGR--ASDHPGGGREFFFDRHP>G<VFAYVLNYYRT-GKLHCPADVCGPLFEEEL138
KCNC3----------A--RFDYDPGADEFFFDRHP>G<VFAYVLNYYRT-GKLHCPADVCGPLFEEEL171
KCNC4---------GS--SGSSGGGGCEFFFDRHP>G<VFAYVLNYYRT-GKLHCPADVCGPLFEEEL130
KCND1-------KE-F----FYDADSGEYFFDRDP>D<MFRHVLNFYRT-GRLHCPRQECIQAFDEEL118
KCND2-------RD-F----FYHPETQQYFFDRDP>D<IFRHILNFYRT-GKLHYPRHECISAYDEEL119
KCND3-------KE-F----FFNEDTKEYFFDRDP>E<VFRCVLNFYRT-GKLHYPRYECISAYDDEL118
KCNF1-------TI-FSLCDDYDPGKREFYFDRDP>D<AFKCVIEVYYF-GEVHMKKGICPICFKNEM113
KCNG1-------DI-LNVCDDYDVTCNEFFFDRNP>G<AFGTILTFLRA-GKLRLLREMCALSFQEEL151
KCNG2-------DL-LRVCDDYDVSRDEFFFDRSP>C<AFRAIVALLRA-GKLRLLRGPCALAFRDEL105
KCNG3-------DV-LEVCDDYDRERNEYFFDRHS>E<AFGFILLYVRGHGKLRFAPRMCELSFYNEM98
KCNG4-------EI-VQLCDDYDEDSQEFFFDRSP>S<AFGVIVSFLAA-GKLVLLQEMCALSFQEEL147
KCNS1-------QA-RRLCDDYDEAAREFYFDRHP>G<FFLSLLHFYRT-GHLHVLDELCVFAFGQEA138
KCNS2-------AI-LELCDDYDDVQREFYFDRNP>E<LFPYVLHFYHT-GKLHVMAELCVFSFSQEI105
KCNS3-------AI-LELCDDYSVADKEYYFDRNP>S<LFRYVLNFYYT-GKLHVMEELCVFSFCQEI103
KCNV1GALAAVPSP-LELCDDANPVDNEYFFDRSS>Q<AFRYVLHYYRT-GRLHVMEQLCALSFLQEI137
KCNV2-------RQ-LSLCDDYEEQTDEYFFDRDP>A<VFQLVYNFYLS-GVLLVLDGLCPRRFLEEL185
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G57Vc.170G>T Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: benign
ReportsInherited 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
Inherited ArrhythmiaLQTS Combined assessment of sex- and mutation-specific information for risk stratification in type 1 long QT syndrome. Heart Rhythm. 2012 9(6):892-8. doi: 10.1016/j.hrthm.2012.01.020. 22293141