Paralogue Annotation for KCNQ1 residue 264

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 264
Reference Amino Acid: T - Threonine
Protein Domain: Transmembrane/Linker/Pore

Paralogue Variants mapped to KCNQ1 residue 264

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
KCNQ2	T234P	Epileptic encephalopathy, neonatal	High	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	QILRMLHVDRQGGTWRLLGSVVFIHRQELI>T<TLYIGFLGLIFSSYFVYLAEKDAVN-----	289
KCNQ2	QILRMIRMDRRGGTWKLLGSVVYAHSKELV>T<AWYIGFLCLILASFLVYLAEKGE-------	257
KCNQ3	QILRMLRMDRRGGTWKLLGSAICAHSKELI>T<AWYIGFLTLILSSFLVYLVEKDVPEVDAQG	293
KCNQ4	QILRMVRMDRRGGTWKLLGSVVYAHSKELI>T<AWYIGFLVLIFASFLVYLAEKDA-------	263
KCNQ5	QILRMVRMDRRGGTWKLLGSVVYAHSKELI>T<AWYIGFLVLIFSSFLVYLVEKDA-------	291
KCNA1	RVFRIFKLSRHSKGLQILGQTLKASMRELG>L<LIFFLFIGVILFSSAVYFAEAEE-------	351
KCNA10	RVFRIFKLSRHSKGLQILGQTLKASMRELG>L<LIFFLFIGVILFSSAVYFAEVDE-------	400
KCNA2	RVFRIFKLSRHSKGLQILGQTLKASMRELG>L<LIFFLFIGVILFSSAVYFAEADE-------	353
KCNA3	RVFRIFKLSRHSKGLQILGQTLKASMRELG>L<LIFFLFIGVILFSSAVYFAEADD-------	423
KCNA4	RVFRIFKLSRHSKGLQILGHTLRASMRELG>L<LIFFLFIGVILFSSAVYFAEADE-------	503
KCNA5	RVFRIFKLSRHSKGLQILGKTLQASMRELG>L<LIFFLFIGVILFSSAVYFAEADN-------	459
KCNA6	RVFRIFKLSRHSKGLQILGKTLQASMRELG>L<LIFFLFIGVILFSSAVYFAEADD-------	401
KCNA7	RVFRIFKLSRHSKGLQILGQTLRASMRELG>L<LIFFLFIGVVLFSSAVYFAEVDR-------	337
KCNB1	RILRILKLARHSTGLQSLGFTLRRSYNELG>L<LILFLAMGIMIFSSLVFFAEKDE-------	356
KCNB2	RILRILKLARHSTGLQSLGFTLRRSYNELG>L<LILFLAMGIMIFSSLVFFAEKDE-------	360
KCNC1	RILRIFKLTRHFVGLRVLGHTLRASTNEFL>L<LIIFLALGVLIFATMIYYAERIGAQPNDPS	377
KCNC2	RILRIFKLTRHFVGLRVLGHTLRASTNEFL>L<LIIFLALGVLIFATMIYYAERVGAQPNDPS	414
KCNC3	RILRIFKLTRHFVGLRVLGHTLRASTNEFL>L<LIIFLALGVLIFATMIYYAERIGADPDDIL	480
KCNC4	RILRIFKLTRHFVGLRVLGHTLRASTNEFL>L<LIIFLALGVLIFATMIYYAERIGARPSDPR	413
KCND1	RVFRIFKFSRHSQGLRILGYTLKSCASELG>F<LLFSLTMAIIIFATVMFYAEKGT-------	351
KCND2	RVFRIFKFSRHSQGLRILGYTLKSCASELG>F<LLFSLTMAIIIFATVMFYAEKGS-------	349
KCND3	RVFRIFKFSRHSQGLRILGYTLKSCASELG>F<LLFSLTMAIIIFATVMFYAEKGS-------	346
KCNF1	RIARIFKLARHSSGLQTLTYALKRSFKELG>L<LLMYLAVGIFVFSALGYTMEQSH-------	349
KCNG1	RILYVMRLARHSLGLQTLGLTARRCTREFG>L<LLLFLCVAIALFAPLLYVIENEM-----A-	403
KCNG2	RVLYVMRLARHSLGLRSLGLTMRRCAREFG>L<LLLFLCVAMALFAPLVHLAEREL-----G-	348
KCNG3	RIFWVIKLARHFIGLQTLGLTLKRCYREMV>M<LLVFICVAMAIFSALSQLLEHGL-----DL	350
KCNG4	RILYVMRLARHSLGLQTLGLTVRRCTREFG>L<LLLFLAVAITLFSPLVYVAEKES-----G-	397
KCNS1	RIFRVLKLARHSTGLRSLGATLKHSYREVG>I<LLLYLAVGVSVFSGVAYTAEKEE-------	401
KCNS2	RIFRILKLARHSTGLRSLGATLKYSYKEVG>L<LLLYLSVGISIFSVVAYTIEKEE-------	354
KCNS3	RIFRILKLARHSVGLRSLGATLRHSYHEVG>L<LLLFLSVGISIFSVLIYSVEKDD-------	349
KCNV1	RALRMLKLGRHSTGLRSLGMTITQCYEEVG>L<LLLFLSVGISIFSTVEYFAEQSI-------	371
KCNV2	RIFRILKLARHSTGLRAFGFTLRQCYQQVG>C<LLLFIAMGIFTFSAAVYSVEHDV-------	436
cons	> <

See full Alignment of Paralogues

Known Variants in KCNQ1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T264S	c.791C>G	Putative Benign			SIFT: deleterious Polyphen: probably damaging