Paralogue Annotation for SCN5A residue 678

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 678
Reference Amino Acid: E - Glutamate
Protein Domain: Interdomain Linker I-II

Paralogue Variants mapped to SCN5A residue 678

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
CACNA1F	E488D	Retinal dystrophy	Medium	2	25356976

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	PGARQR-A-LSAVSVLTSA----L-EELE->E<SR---------------------HK--CPP	685
SCN1A	PSQRQR-A-MSIASILTNT----V-EELE->E<SR---------------------QK--CPP	736
SCN2A	PTSRQR-A-MSIASILTNT----M-EELE->E<SR---------------------QK--CPP	727
SCN3A	SSGRQR-A-VSIASILTNT----M-EELE->E<SR---------------------QK--CPP	728
SCN4A	KGAPRQ-S-SSGDSGISDA----M-EELE->E<AH---------------------QK--CPP	546
SCN7A	ATLRHK-------------------EELE->K<SK---------------------KI--CPL	473
SCN8A	YGRKDR-I-NSIMSVVTNTL---V-EELE->E<SQ---------------------RK--CPP	721
SCN9A	PNLRQR-A-MSRASILTNT----V-EELE->E<SR---------------------QK--CPP	701
SCN10A	PFRAQR-A-MSVVSIITSV----L-EELE->E<SE---------------------QK--CPP	633
SCN11A	PLQRQR-A-LSAVSILTIT----M-KEQE->K<SQ---------------------EP--CLP	545
CACNA1A	---DIA-S-VG------------------->-<-----------------------SP--FAR	455
CACNA1B	---DLC-A-VG------------------->-<-----------------------SP--FAR	451
CACNA1C	---IEGEN-CG------------------->-<----------------------------AR	492
CACNA1D	---NRG-C-CGSLWCWWR-------RRGA->A<KA---------------------GPSGCRR	511
CACNA1E	---DIS-S-VG------------------->-<-----------------------TP--LAR	444
CACNA1F	---P-A-SDTGSMTETQG-------DEDE->E<EG---------------------ALASCTR	497
CACNA1G	---YCA-R-AG-----AG-----EVELADR>E<MP-DSDSEAVYEFTQDAQHSDLRDPH-SRR	712
CACNA1H	---YCT-R-AL-----ED-P---EGELSGS>E<SG-DSDGRGVYEFTQDVRHGDRWDP--TRP	745
CACNA1I	---CCQ-H-ED-----GR-RPSGLGS---T>D<SGQEGSGSGSSAGGEDE-A---DGD--GAR	595
CACNA1S	------------------------------>-<AG----------------------------	403
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

There are currently no reported variants at residue 678 for SCN5A.