Paralogue Annotation for KCNQ1 residue 238

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 238
Reference Amino Acid: M - Methionine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNQ1 residue 238

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNQ2M208VEpilepsy, benign neonatalHigh9 14534157

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---------SKGQVFATSAIRGIRFLQILR>M<LHVDRQGGTWRLLGSVVFIHRQELITTLYI268
KCNQ2---------SQGNVFATSALRSLRFLQILR>M<IRMDRRGGTWKLLGSVVYAHSKELVTAWYI238
KCNQ3---------NQGNVLA-TSLRSLRFLQILR>M<LRMDRRGGTWKLLGSAICAHSKELITAWYI267
KCNQ4---------TQGNIFATSALRSMRFLQILR>M<VRMDRRGGTWKLLGSVVYAHSKELITAWYI244
KCNQ5---------TQGNIFATSALRSLRFLQILR>M<VRMDRRGGTWKLLGSVVYAHSKELITAWYI272
KCNA1------N-QKGEQATSLAILRVIRLVRVFR>I<FKLSRHSKGLQILGQTLKASMRELGLLIFF332
KCNA10---------SAQQNMSLAILRIIRLVRVFR>I<FKLSRHSKGLQILGQTLKASMRELGLLIFF381
KCNA2------DAQQGQQAMSLAILRVIRLVRVFR>I<FKLSRHSKGLQILGQTLKASMRELGLLIFF334
KCNA3--------GNGQQAMSLAILRVIRLVRVFR>I<FKLSRHSKGLQILGQTLKASMRELGLLIFF404
KCNA4------GNGQQQQAMSFAILRIIRLVRVFR>I<FKLSRHSKGLQILGHTLRASMRELGLLIFF484
KCNA5-PGGGGGGQNGQQAMSLAILRVIRLVRVFR>I<FKLSRHSKGLQILGKTLQASMRELGLLIFF440
KCNA6QPASGGGGQNGQQAMSLAILRVIRLVRVFR>I<FKLSRHSKGLQILGKTLQASMRELGLLIFF382
KCNA7--------GVGQQAMSLAILRVIRLVRVFR>I<FKLSRHSKGLQILGQTLRASMRELGLLIFF318
KCNB1-------KSVLQFQNVRRVVQIFRIMRILR>I<LKLARHSTGLQSLGFTLRRSYNELGLLILF337
KCNB2-------KSVLQFQNVRRVVQIFRIMRILR>I<LKLARHSTGLQSLGFTLRRSYNELGLLILF341
KCNC1-------LSSKAAKDVLGFLRVVRFVRILR>I<FKLTRHFVGLRVLGHTLRASTNEFLLLIIF351
KCNC2-------LSSKAAKDVLGFLRVVRFVRILR>I<FKLTRHFVGLRVLGHTLRASTNEFLLLIIF388
KCNC3-------LSSKAAKDVLGFLRVVRFVRILR>I<FKLTRHFVGLRVLGHTLRASTNEFLLLIIF454
KCNC4-------LSSKAARDVLGFLRVVRFVRILR>I<FKLTRHFVGLRVLGHTLRASTNEFLLLIIF387
KCND1-----------KNDDVSGAFVTLRVFRVFR>I<FKFSRHSQGLRILGYTLKSCASELGFLLFS332
KCND2-----------DNEDVSGAFVTLRVFRVFR>I<FKFSRHSQGLRILGYTLKSCASELGFLLFS330
KCND3-----------NNEDVSGAFVTLRVFRVFR>I<FKFSRHSQGLRILGYTLKSCASELGFLLFS327
KCNF1------GARMMELTNVQQAVQALRIMRIAR>I<FKLARHSSGLQTLTYALKRSFKELGLLLMY330
KCNG1----KPGAGNSYLDKVGLVLRVLRALRILY>V<MRLARHSLGLQTLGLTARRCTREFGLLLLF383
KCNG2----AGPGGTKLLERAGLVLRLLRALRVLY>V<MRLARHSLGLRSLGLTMRRCAREFGLLLLF328
KCNG3-----FTGENSQLQRAGVTLRVLRMMRIFW>V<IKLARHFIGLQTLGLTLKRCYREMVMLLVF329
KCNG4----ERPSGSSYLEKVGLVLRVLRALRILY>V<MRLARHSLGLQTLGLTVRRCTREFGLLLLF377
KCNS1-------QGGKEFGHLGKVVQVFRLMRIFR>V<LKLARHSTGLRSLGATLKHSYREVGILLLY382
KCNS2-------ESTPTLANLGRVAQVLRLMRIFR>I<LKLARHSTGLRSLGATLKYSYKEVGLLLLY335
KCNS3-------EESEDIENMGKVVQILRLMRIFR>I<LKLARHSVGLRSLGATLRHSYHEVGLLLLF330
KCNV1-------QTTQELENVGRIVQVLRLLRALR>M<LKLGRHSTGLRSLGMTITQCYEEVGLLLLF352
KCNV2----QRGQTVGSVGKVGQVLRVMRLMRIFR>I<LKLARHSTGLRAFGFTLRQCYQQVGCLLLF417
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.M238Vc.712A>G Putative BenignSIFT:
Polyphen:
p.M238Lc.712A>C Putative BenignSIFT:
Polyphen: