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

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
KCNQ2	R210H	Epileptic encephalopathy, neonatal	Medium	9	24107868
KCNQ2	R210C	Epileptic encephalopathy, early-onset	Medium	9	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<VDRQGGTWRLLGSVVFIHRQELITTLYIGF	270
KCNQ2	-------SQGNVFATSALRSLRFLQILRMI>R<MDRRGGTWKLLGSVVYAHSKELVTAWYIGF	240
KCNQ3	-------NQGNVLA-TSLRSLRFLQILRML>R<MDRRGGTWKLLGSAICAHSKELITAWYIGF	269
KCNQ4	-------TQGNIFATSALRSMRFLQILRMV>R<MDRRGGTWKLLGSVVYAHSKELITAWYIGF	246
KCNQ5	-------TQGNIFATSALRSLRFLQILRMV>R<MDRRGGTWKLLGSVVYAHSKELITAWYIGF	274
KCNA1	----N-QKGEQATSLAILRVIRLVRVFRIF>K<LSRHSKGLQILGQTLKASMRELGLLIFFLF	334
KCNA10	-------SAQQNMSLAILRIIRLVRVFRIF>K<LSRHSKGLQILGQTLKASMRELGLLIFFLF	383
KCNA2	----DAQQGQQAMSLAILRVIRLVRVFRIF>K<LSRHSKGLQILGQTLKASMRELGLLIFFLF	336
KCNA3	------GNGQQAMSLAILRVIRLVRVFRIF>K<LSRHSKGLQILGQTLKASMRELGLLIFFLF	406
KCNA4	----GNGQQQQAMSFAILRIIRLVRVFRIF>K<LSRHSKGLQILGHTLRASMRELGLLIFFLF	486
KCNA5	GGGGGGQNGQQAMSLAILRVIRLVRVFRIF>K<LSRHSKGLQILGKTLQASMRELGLLIFFLF	442
KCNA6	ASGGGGQNGQQAMSLAILRVIRLVRVFRIF>K<LSRHSKGLQILGKTLQASMRELGLLIFFLF	384
KCNA7	------GVGQQAMSLAILRVIRLVRVFRIF>K<LSRHSKGLQILGQTLRASMRELGLLIFFLF	320
KCNB1	-----KSVLQFQNVRRVVQIFRIMRILRIL>K<LARHSTGLQSLGFTLRRSYNELGLLILFLA	339
KCNB2	-----KSVLQFQNVRRVVQIFRIMRILRIL>K<LARHSTGLQSLGFTLRRSYNELGLLILFLA	343
KCNC1	-----LSSKAAKDVLGFLRVVRFVRILRIF>K<LTRHFVGLRVLGHTLRASTNEFLLLIIFLA	353
KCNC2	-----LSSKAAKDVLGFLRVVRFVRILRIF>K<LTRHFVGLRVLGHTLRASTNEFLLLIIFLA	390
KCNC3	-----LSSKAAKDVLGFLRVVRFVRILRIF>K<LTRHFVGLRVLGHTLRASTNEFLLLIIFLA	456
KCNC4	-----LSSKAARDVLGFLRVVRFVRILRIF>K<LTRHFVGLRVLGHTLRASTNEFLLLIIFLA	389
KCND1	---------KNDDVSGAFVTLRVFRVFRIF>K<FSRHSQGLRILGYTLKSCASELGFLLFSLT	334
KCND2	---------DNEDVSGAFVTLRVFRVFRIF>K<FSRHSQGLRILGYTLKSCASELGFLLFSLT	332
KCND3	---------NNEDVSGAFVTLRVFRVFRIF>K<FSRHSQGLRILGYTLKSCASELGFLLFSLT	329
KCNF1	----GARMMELTNVQQAVQALRIMRIARIF>K<LARHSSGLQTLTYALKRSFKELGLLLMYLA	332
KCNG1	--KPGAGNSYLDKVGLVLRVLRALRILYVM>R<LARHSLGLQTLGLTARRCTREFGLLLLFLC	385
KCNG2	--AGPGGTKLLERAGLVLRLLRALRVLYVM>R<LARHSLGLRSLGLTMRRCAREFGLLLLFLC	330
KCNG3	---FTGENSQLQRAGVTLRVLRMMRIFWVI>K<LARHFIGLQTLGLTLKRCYREMVMLLVFIC	331
KCNG4	--ERPSGSSYLEKVGLVLRVLRALRILYVM>R<LARHSLGLQTLGLTVRRCTREFGLLLLFLA	379
KCNS1	-----QGGKEFGHLGKVVQVFRLMRIFRVL>K<LARHSTGLRSLGATLKHSYREVGILLLYLA	384
KCNS2	-----ESTPTLANLGRVAQVLRLMRIFRIL>K<LARHSTGLRSLGATLKYSYKEVGLLLLYLS	337
KCNS3	-----EESEDIENMGKVVQILRLMRIFRIL>K<LARHSVGLRSLGATLRHSYHEVGLLLLFLS	332
KCNV1	-----QTTQELENVGRIVQVLRLLRALRML>K<LGRHSTGLRSLGMTITQCYEEVGLLLLFLS	354
KCNV2	--QRGQTVGSVGKVGQVLRVMRLMRIFRIL>K<LARHSTGLRAFGFTLRQCYQQVGCLLLFIA	419
cons	> <

See full Alignment of Paralogues

Known Variants in KCNQ1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.H240R	c.719A>G	Putative Benign			SIFT: tolerated Polyphen: possibly damaging