Paralogue Annotation for KCNQ1 residue 234

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 234
Reference Amino Acid: Q - Glutamine
Protein Domain: Transmembrane/Linker/Pore

Paralogue Variants mapped to KCNQ1 residue 234

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
KCNC3	R420H	Spinocerebellar ataxia 13	Medium	9	16501573, 18592334, 20712895, 21543613, 22289912, 23215817, 22736459, 23734863, 23912307, 24116147, 25152487, 25756792

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	-------------SKGQVFATSAIRGIRFL>Q<ILRMLHVDRQGGTWRLLGSVVFIHRQELIT	264
KCNQ2	-------------SQGNVFATSALRSLRFL>Q<ILRMIRMDRRGGTWKLLGSVVYAHSKELVT	234
KCNQ3	-------------NQGNVLA-TSLRSLRFL>Q<ILRMLRMDRRGGTWKLLGSAICAHSKELIT	263
KCNQ4	-------------TQGNIFATSALRSMRFL>Q<ILRMVRMDRRGGTWKLLGSVVYAHSKELIT	240
KCNQ5	-------------TQGNIFATSALRSLRFL>Q<ILRMVRMDRRGGTWKLLGSVVYAHSKELIT	268
KCNA1	QEG-------N-QKGEQATSLAILRVIRLV>R<VFRIFKLSRHSKGLQILGQTLKASMRELGL	328
KCNA10	ETEP---------SAQQNMSLAILRIIRLV>R<VFRIFKLSRHSKGLQILGQTLKASMRELGL	377
KCNA2	KPE-------DAQQGQQAMSLAILRVIRLV>R<VFRIFKLSRHSKGLQILGQTLKASMRELGL	330
KCNA3	RQ----------GNGQQAMSLAILRVIRLV>R<VFRIFKLSRHSKGLQILGQTLKASMRELGL	400
KCNA4	QQGG------GNGQQQQAMSFAILRIIRLV>R<VFRIFKLSRHSKGLQILGHTLRASMRELGL	480
KCNA5	QQ---PGGGGGGQNGQQAMSLAILRVIRLV>R<VFRIFKLSRHSKGLQILGKTLQASMRELGL	436
KCNA6	QQEQQPASGGGGQNGQQAMSLAILRVIRLV>R<VFRIFKLSRHSKGLQILGKTLQASMRELGL	378
KCNA7	QR----------GVGQQAMSLAILRVIRLV>R<VFRIFKLSRHSKGLQILGQTLRASMRELGL	314
KCNB1	--N--------KSVLQFQNVRRVVQIFRIM>R<ILRILKLARHSTGLQSLGFTLRRSYNELGL	333
KCNB2	--N--------KSVLQFQNVRRVVQIFRIM>R<ILRILKLARHSTGLQSLGFTLRRSYNELGL	337
KCNC1	-----------LSSKAAKDVLGFLRVVRFV>R<ILRIFKLTRHFVGLRVLGHTLRASTNEFLL	347
KCNC2	-----------LSSKAAKDVLGFLRVVRFV>R<ILRIFKLTRHFVGLRVLGHTLRASTNEFLL	384
KCNC3	-----------LSSKAAKDVLGFLRVVRFV>R<ILRIFKLTRHFVGLRVLGHTLRASTNEFLL	450
KCNC4	-----------LSSKAARDVLGFLRVVRFV>R<ILRIFKLTRHFVGLRVLGHTLRASTNEFLL	383
KCND1	---------------KNDDVSGAFVTLRVF>R<VFRIFKFSRHSQGLRILGYTLKSCASELGF	328
KCND2	---------------DNEDVSGAFVTLRVF>R<VFRIFKFSRHSQGLRILGYTLKSCASELGF	326
KCND3	---------------NNEDVSGAFVTLRVF>R<VFRIFKFSRHSQGLRILGYTLKSCASELGF	323
KCNF1	----------GARMMELTNVQQAVQALRIM>R<IARIFKLARHSSGLQTLTYALKRSFKELGL	326
KCNG1	AGRR----KPGAGNSYLDKVGLVLRVLRAL>R<ILYVMRLARHSLGLQTLGLTARRCTREFGL	379
KCNG2	---A----AGPGGTKLLERAGLVLRLLRAL>R<VLYVMRLARHSLGLRSLGLTMRRCAREFGL	324
KCNG3	---------FTGENSQLQRAGVTLRVLRMM>R<IFWVIKLARHFIGLQTLGLTLKRCYREMVM	325
KCNG4	PEDG----ERPSGSSYLEKVGLVLRVLRAL>R<ILYVMRLARHSLGLQTLGLTVRRCTREFGL	373
KCNS1	G-D--------QGGKEFGHLGKVVQVFRLM>R<IFRVLKLARHSTGLRSLGATLKHSYREVGI	378
KCNS2	--V--------ESTPTLANLGRVAQVLRLM>R<IFRILKLARHSTGLRSLGATLKYSYKEVGL	331
KCNS3	--E--------EESEDIENMGKVVQILRLM>R<IFRILKLARHSVGLRSLGATLRHSYHEVGL	326
KCNV1	G-S--------QTTQELENVGRIVQVLRLL>R<ALRMLKLGRHSTGLRSLGMTITQCYEEVGL	348
KCNV2	GEGH----QRGQTVGSVGKVGQVLRVMRLM>R<IFRILKLARHSTGLRAFGFTLRQCYQQVGC	413
cons	> <

See full Alignment of Paralogues

Known Variants in KCNQ1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Gln234Arg	c.701A>G	Unknown			SIFT: Polyphen: