Paralogue Annotation for SCN5A residue 1171

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1171
Reference Amino Acid: G - Glycine
Protein Domain: Interdomain Linker II-III

Paralogue Variants mapped to SCN5A residue 1171

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
CACNA1H	Q1264H	Epilepsy, childhood absence	Low	2	17696120

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 SCN5A.

SCN5A	QDVKDP------------------EDCFTE>G<CVRR-CPCCAVDTTQAP---GKVWWRLRKT	1197
SCN1A	EETLEP------------------EACFTE>G<CVQR-FKCCQINVEEGR---GKQWWNLRRT	1210
SCN2A	EESLEP------------------EACFTE>D<CVRK-FKCCQISIEEGK---GKLWWNLRKT	1200
SCN3A	EEDLKP------------------EACFTE>G<CIKK-FPFCQVSTEEGK---GKIWWNLRKT	1198
SCN4A	PEGEQP------------------EECFTE>A<CVQR-WPCLYVDISQGR---GKKWWTLRRA	1023
SCN7A	FYGGER------------------SKHLKN>G<CRRG-SSLGQISGASKK---GKIWQNIRKT	926
SCN8A	EEYLDP------------------DACFTE>G<CVQR-FKCCQVNIEEGL---GKSWWILRKT	1190
SCN9A	MNSDEP------------------EACFTD>G<CVWR-FSCCQVNIESGK---GKIWWNIRKT	1173
SCN10A	DDLEEP------------------DDCFTE>G<CIRH-CPCCKLDTTKSP---WDVGWQVRKT	1144
SCN11A	VPKKQP------------------ERCLPK>G<FGCC-FPCCSVDKRKPP---WVIWWNLRKT	1048
CACNA1A	---NHTVVQVNKNANPDPLPKKEEEKKEEE>E<DDRGEDGPK-PMPPYSSMFILSTTNPLRRL	1236
CACNA1B	---GEATVVPSGNVD---LESQAEGKKEVE>A<DDVMRSGPR-PIVPYSSMFCLSPTNLLRRF	1143
CACNA1C	---SEL----------H------------->-<---LKEKAV-PMPEASAFFIFSSNNRFRLQ	892
CACNA1D	---SEL----------N------------->-<---MKEKIA-PIPEGSAFFILSKTNPIRVG	898
CACNA1E	----EASPLKEAEI----REDEEEVEKKKQ>K<KEKRETG-K-AMVPHSSMFIFSTTNPIRRA	1145
CACNA1F	---QEV----------V------------->-<---PKEKVV-PIPEGSAFFCLSQTNPLRKG	863
CACNA1G	---IRA----------R------------->-<---LP-ACCLERDSWSAY-IFPPQSRFRLL	1268
CACNA1H	---LEP----------Y-------------><---KP-QWCRSREAWALY-LFSPQNRFRVS	1286
CACNA1I	---IDV----------Y------------->-<---KP-DWCEVREDWSVY-LFSPENRFRVL	1162
CACNA1S	---AEL----------Q------------->-<---LKEKAV-PIPEASSFFIFSPTNKIRVL	791
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Gly1171Asp	c.3512G>A	Unknown			SIFT: Polyphen: