Paralogue Annotation for KCNQ1 residue 240

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 240
Reference Amino Acid: H - Histidine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNQ1 residue 240

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNQ2R210HEpileptic encephalopathy, neonatalMedium9 24107868
KCNQ2R210CEpileptic encephalopathy, early-onsetMedium9 25818041

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-------SKGQVFATSAIRGIRFLQILRML>H<VDRQGGTWRLLGSVVFIHRQELITTLYIGF270
KCNQ2-------SQGNVFATSALRSLRFLQILRMI>R<MDRRGGTWKLLGSVVYAHSKELVTAWYIGF240
KCNQ3-------NQGNVLA-TSLRSLRFLQILRML>R<MDRRGGTWKLLGSAICAHSKELITAWYIGF269
KCNQ4-------TQGNIFATSALRSMRFLQILRMV>R<MDRRGGTWKLLGSVVYAHSKELITAWYIGF246
KCNQ5-------TQGNIFATSALRSLRFLQILRMV>R<MDRRGGTWKLLGSVVYAHSKELITAWYIGF274
KCNA1----N-QKGEQATSLAILRVIRLVRVFRIF>K<LSRHSKGLQILGQTLKASMRELGLLIFFLF334
KCNA10-------SAQQNMSLAILRIIRLVRVFRIF>K<LSRHSKGLQILGQTLKASMRELGLLIFFLF383
KCNA2----DAQQGQQAMSLAILRVIRLVRVFRIF>K<LSRHSKGLQILGQTLKASMRELGLLIFFLF336
KCNA3------GNGQQAMSLAILRVIRLVRVFRIF>K<LSRHSKGLQILGQTLKASMRELGLLIFFLF406
KCNA4----GNGQQQQAMSFAILRIIRLVRVFRIF>K<LSRHSKGLQILGHTLRASMRELGLLIFFLF486
KCNA5GGGGGGQNGQQAMSLAILRVIRLVRVFRIF>K<LSRHSKGLQILGKTLQASMRELGLLIFFLF442
KCNA6ASGGGGQNGQQAMSLAILRVIRLVRVFRIF>K<LSRHSKGLQILGKTLQASMRELGLLIFFLF384
KCNA7------GVGQQAMSLAILRVIRLVRVFRIF>K<LSRHSKGLQILGQTLRASMRELGLLIFFLF320
KCNB1-----KSVLQFQNVRRVVQIFRIMRILRIL>K<LARHSTGLQSLGFTLRRSYNELGLLILFLA339
KCNB2-----KSVLQFQNVRRVVQIFRIMRILRIL>K<LARHSTGLQSLGFTLRRSYNELGLLILFLA343
KCNC1-----LSSKAAKDVLGFLRVVRFVRILRIF>K<LTRHFVGLRVLGHTLRASTNEFLLLIIFLA353
KCNC2-----LSSKAAKDVLGFLRVVRFVRILRIF>K<LTRHFVGLRVLGHTLRASTNEFLLLIIFLA390
KCNC3-----LSSKAAKDVLGFLRVVRFVRILRIF>K<LTRHFVGLRVLGHTLRASTNEFLLLIIFLA456
KCNC4-----LSSKAARDVLGFLRVVRFVRILRIF>K<LTRHFVGLRVLGHTLRASTNEFLLLIIFLA389
KCND1---------KNDDVSGAFVTLRVFRVFRIF>K<FSRHSQGLRILGYTLKSCASELGFLLFSLT334
KCND2---------DNEDVSGAFVTLRVFRVFRIF>K<FSRHSQGLRILGYTLKSCASELGFLLFSLT332
KCND3---------NNEDVSGAFVTLRVFRVFRIF>K<FSRHSQGLRILGYTLKSCASELGFLLFSLT329
KCNF1----GARMMELTNVQQAVQALRIMRIARIF>K<LARHSSGLQTLTYALKRSFKELGLLLMYLA332
KCNG1--KPGAGNSYLDKVGLVLRVLRALRILYVM>R<LARHSLGLQTLGLTARRCTREFGLLLLFLC385
KCNG2--AGPGGTKLLERAGLVLRLLRALRVLYVM>R<LARHSLGLRSLGLTMRRCAREFGLLLLFLC330
KCNG3---FTGENSQLQRAGVTLRVLRMMRIFWVI>K<LARHFIGLQTLGLTLKRCYREMVMLLVFIC331
KCNG4--ERPSGSSYLEKVGLVLRVLRALRILYVM>R<LARHSLGLQTLGLTVRRCTREFGLLLLFLA379
KCNS1-----QGGKEFGHLGKVVQVFRLMRIFRVL>K<LARHSTGLRSLGATLKHSYREVGILLLYLA384
KCNS2-----ESTPTLANLGRVAQVLRLMRIFRIL>K<LARHSTGLRSLGATLKYSYKEVGLLLLYLS337
KCNS3-----EESEDIENMGKVVQILRLMRIFRIL>K<LARHSVGLRSLGATLRHSYHEVGLLLLFLS332
KCNV1-----QTTQELENVGRIVQVLRLLRALRML>K<LGRHSTGLRSLGMTITQCYEEVGLLLLFLS354
KCNV2--QRGQTVGSVGKVGQVLRVMRLMRIFRIL>K<LARHSTGLRAFGFTLRQCYQQVGCLLLFIA419
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.H240Rc.719A>G Putative BenignSIFT: tolerated
Polyphen: possibly damaging