Paralogue Annotation for KCNQ1 residue 233

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 233
Reference Amino Acid: L - Leucine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNQ1 residue 233

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNQ2L203PEpileptic encephalopathy, early-onsetHigh9 26007637

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in KCNQ1.



KCNQ1--------------SKGQVFATSAIRGIRF>L<QILRMLHVDRQGGTWRLLGSVVFIHRQELI263
KCNQ2--------------SQGNVFATSALRSLRF>L<QILRMIRMDRRGGTWKLLGSVVYAHSKELV233
KCNQ3--------------NQGNVLA-TSLRSLRF>L<QILRMLRMDRRGGTWKLLGSAICAHSKELI262
KCNQ4--------------TQGNIFATSALRSMRF>L<QILRMVRMDRRGGTWKLLGSVVYAHSKELI239
KCNQ5--------------TQGNIFATSALRSLRF>L<QILRMVRMDRRGGTWKLLGSVVYAHSKELI267
KCNA1EQEG-------N-QKGEQATSLAILRVIRL>V<RVFRIFKLSRHSKGLQILGQTLKASMRELG327
KCNA10QETEP---------SAQQNMSLAILRIIRL>V<RVFRIFKLSRHSKGLQILGQTLKASMRELG376
KCNA2EKPE-------DAQQGQQAMSLAILRVIRL>V<RVFRIFKLSRHSKGLQILGQTLKASMRELG329
KCNA3ERQ----------GNGQQAMSLAILRVIRL>V<RVFRIFKLSRHSKGLQILGQTLKASMRELG399
KCNA4QQQGG------GNGQQQQAMSFAILRIIRL>V<RVFRIFKLSRHSKGLQILGHTLRASMRELG479
KCNA5EQQ---PGGGGGGQNGQQAMSLAILRVIRL>V<RVFRIFKLSRHSKGLQILGKTLQASMRELG435
KCNA6QQQEQQPASGGGGQNGQQAMSLAILRVIRL>V<RVFRIFKLSRHSKGLQILGKTLQASMRELG377
KCNA7RQR----------GVGQQAMSLAILRVIRL>V<RVFRIFKLSRHSKGLQILGQTLRASMRELG313
KCNB1---N--------KSVLQFQNVRRVVQIFRI>M<RILRILKLARHSTGLQSLGFTLRRSYNELG332
KCNB2---N--------KSVLQFQNVRRVVQIFRI>M<RILRILKLARHSTGLQSLGFTLRRSYNELG336
KCNC1------------LSSKAAKDVLGFLRVVRF>V<RILRIFKLTRHFVGLRVLGHTLRASTNEFL346
KCNC2------------LSSKAAKDVLGFLRVVRF>V<RILRIFKLTRHFVGLRVLGHTLRASTNEFL383
KCNC3------------LSSKAAKDVLGFLRVVRF>V<RILRIFKLTRHFVGLRVLGHTLRASTNEFL449
KCNC4------------LSSKAARDVLGFLRVVRF>V<RILRIFKLTRHFVGLRVLGHTLRASTNEFL382
KCND1----------------KNDDVSGAFVTLRV>F<RVFRIFKFSRHSQGLRILGYTLKSCASELG327
KCND2----------------DNEDVSGAFVTLRV>F<RVFRIFKFSRHSQGLRILGYTLKSCASELG325
KCND3----------------NNEDVSGAFVTLRV>F<RVFRIFKFSRHSQGLRILGYTLKSCASELG322
KCNF1-----------GARMMELTNVQQAVQALRI>M<RIARIFKLARHSSGLQTLTYALKRSFKELG325
KCNG1AAGRR----KPGAGNSYLDKVGLVLRVLRA>L<RILYVMRLARHSLGLQTLGLTARRCTREFG378
KCNG2----A----AGPGGTKLLERAGLVLRLLRA>L<RVLYVMRLARHSLGLRSLGLTMRRCAREFG323
KCNG3----------FTGENSQLQRAGVTLRVLRM>M<RIFWVIKLARHFIGLQTLGLTLKRCYREMV324
KCNG4PPEDG----ERPSGSSYLEKVGLVLRVLRA>L<RILYVMRLARHSLGLQTLGLTVRRCTREFG372
KCNS1LG-D--------QGGKEFGHLGKVVQVFRL>M<RIFRVLKLARHSTGLRSLGATLKHSYREVG377
KCNS2---V--------ESTPTLANLGRVAQVLRL>M<RIFRILKLARHSTGLRSLGATLKYSYKEVG330
KCNS3---E--------EESEDIENMGKVVQILRL>M<RIFRILKLARHSVGLRSLGATLRHSYHEVG325
KCNV1SG-S--------QTTQELENVGRIVQVLRL>L<RALRMLKLGRHSTGLRSLGMTITQCYEEVG347
KCNV2TGEGH----QRGQTVGSVGKVGQVLRVMRL>M<RIFRILKLARHSTGLRAFGFTLRQCYQQVG412
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L233Pc.698T>C Putative BenignSIFT:
Polyphen: