Paralogue Annotation for SCN5A residue 2008

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 2008
Reference Amino Acid: P - Proline
Protein Domain: C-terminus

Paralogue Variants mapped to SCN5A residue 2008

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
CACNA1C	D2130N	Brugada syndrome (shorter-than-normal QT interval)	Low	3	20817017

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	-------------------------DFPPS>P<DRDRESIV	2016
SCN1A	-----------------------------K>G<-------K	2009
SCN2A	-----------------------------K>G<KDIRESKK	2005
SCN3A	-----------------------------K>G<KEVRENQK	2000
SCN4A	-----------------------------V>R<PGVKESLV	1836
SCN7A	------------------------------>-<---IQSQI	1682
SCN8A	-----------------------------R>Q<KEVRESKC	1980
SCN9A	-----------------------------K>G<KDSKESKK	1977
SCN10A	-----------------------------T>S<MELIAPGP	1956
SCN11A	------------------------------>-<-------D	1791
CACNA1A	-------------------------RSPSE>G<REHMAHRQ	2261
CACNA1B	LG-LS--------------SGGR--ARHSY>H<HPDQDHWC	2340
CACNA1C	----------GCV-----RARGRPSEEELQ>D<SRVYVSSL	2138
CACNA1D	----------E-E-----PDPGR-DEEDLA>D<EMICITTL	2181
CACNA1E	RR-RG-----GPG-----PGMMCGAVNNLL>S<DTEEDDKC	2313
CACNA1F	----------E-E-----SILSRFDEEDLG>D<EMACVHAL	1977
CACNA1G	------------------------------>-<-------P	2377
CACNA1H	KRRGLYLTVPQ-CPLEKPGSPSA--TPA-P>G<-GGADDPV	2353
CACNA1I	-----------------PQPLPG--ELE-P>G<DAASKRKR	2223
CACNA1S	------------G-----SSLGSLDQHQGS>Q<ETLIPPRL	1873
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P2008L	c.6023C>T	Putative Benign			SIFT: Polyphen: