Paralogue Annotation for SCN5A residue 14

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 14
Reference Amino Acid: R - Arginine
Protein Domain: N-terminus

Paralogue Variants mapped to SCN5A residue 14

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN10A	R14L	Brugada syndrome	Medium	3	24998131, 24998131, 25691538, 25691686

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	--MAN-F-L-------------LPRGTSSF>R<RFTRESLAAIEKRMAEK-QARGSTTLQESR	43
SCN1A	-MEQT-V-L-------------VPPGPDSF>N<FFTRESLAAIERRIAEE-KAKNPKPD----	40
SCN2A	-MAQS-V-L-------------VPPGPDSF>R<FFTRESLAAIEQRIAEE-KAKRPKQE----	40
SCN3A	-MAQA-L-L-------------VPPGPESF>R<LFTRESLAAIEKRAAEE-KAKKPKKE----	40
SCN4A	RPSLC-T-L-------------VPLGPECL>R<PFTRESLAAIEQRAVEE-EARLQRNK----	43
SCN7A	------M-L-------------ASPEPKGL>V<PFTKESFELIKQHIAKT--------H----	29
SCN8A	-MAAR-L-L-------------APPGPDSF>K<PFTPESLANIERRIAES-KLKKPPKADGSH	44
SCN9A	---MA-M-L-------------PPPGPQSF>V<HFTKQSLALIEQRIAER-KSKEPKEE----	38
SCN10A	--MEF-P-I-------------GSLETNNF>R<RFTPESLVEIEKQIAAKQGT-KKARE-KHR	42
SCN11A	DDRCY-P-V-------------IFPDERNF>R<PFTSDSLAAIEKRIAIQ-KEKKKSK-----	41
CACNA1A	RF-----GD----EM-PARYGG-------->-<---GGSGAAAGV-------------VVGSG	28
CACNA1B	RF-----GD----EL-GGRYGG-------->-<---PGGGERA-----------------RGG	24
CACNA1C	NENTR--MYIPEENHQGSNYGS-------->-<---PR-PAHANMN--------A-NAAAGLA	39
CACNA1D	MM-----MMMKKMQHQRQQQAD-------->H<--ANE-ANYARGT--------R-LPLSGEG	38
CACNA1E	RF-----GE----AV-VARPGS-------->-<------GDGD----------------SD-Q	21
CACNA1F	ES-----E----GG----KDTT-------->-<---PE-PSPAN--------------GAGPG	23
CACNA1G	EE-ED--GA-------------GAEESGQP>-<R-S---------F--------M--RLND--	24
CACNA1H	EG-ARAADE--V-RV-P--LGAPPPGPAAL>V<GASPESPGAPGRE--------A--ERGS--	44
CACNA1I	E------SA-------------SPPSSSAA>A<PAA------------------E--PGVTTE	24
CACNA1S	P----------------------------->-<------------------------------	3
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R14S	c.40C>A	Putative Benign			SIFT: Polyphen: