Paralogue Annotation for SCN5A residue 215

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 215
Reference Amino Acid: V - Valine
Protein Domain: TM Domain 1

Paralogue Variants mapped to SCN5A residue 215

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	V212A	Dravet syndrome	High	9	18076640
SCN2A	V213D	Epileptic encephalopathy, early onset	High	9	23935176
SCN8A	V216D	Epileptic encephalopathy, infantile	High	9	24888894

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	IMAYVSENIKLG-----------------N>L<SALRTFRVLRALKTISVIPGLKTIVGALIQ	245
SCN1A	TFAYVTEFVDLG-----------------N>V<SALRTFRVLRALKTISVIPGLKTIVGALIQ	242
SCN2A	TFAYVTEFVDLG-----------------N>V<SALRTFRVLRALKTISVIPGLKTIVGALIQ	243
SCN3A	VMAYVTEFVDLG-----------------N>V<SALRTFRVLRALKTISVIPGLKTIVGALIQ	242
SCN4A	MMAYLTEFVDLG-----------------N>I<SALRTFRVLRALKTITVIPGLKTIVGALIQ	245
SCN7A	VFEVIIRYSPLD-----------------F>I<PTLQTARTLRILKIIPLNQGLKSLVGVLIH	232
SCN8A	MMAYITEFVNLG-----------------N>V<SALRTFRVLRALKTISVIPGLKTIVGALIQ	246
SCN9A	VFAYLTEFVNLG-----------------N>V<SALRTFRVLRALKTISVIPGLKTIVGALIQ	240
SCN10A	TLAYVGTAIDLR-----------------G>I<SGLRTFRVLRALKTVSVIPGLKVIVGALIH	241
SCN11A	GIAIVSYIPGIT----------------IK>L<LPLRTFRVFRALKAISVVSRLKVIVGALLR	248
CACNA1A	LTGILATVGTEF-----------------D>L<RTLRAVRVLRPLKLVSGIPSLQVVLKSIMK	221
CACNA1B	LTGILATAGTDF-----------------D>L<RTLRAVRVLRPLKLVSGIPSLQVVLKSIMK	218
CACNA1C	VVGLFSAILEQATKA-DGANALGGKGAGFD>V<KALRAFRVLRPLRLVSGVPSLQVVLNSIIK	263
CACNA1D	IVGLFSVILEQLTKETEGGNHSSGKSGGFD>V<KALRAFRVLRPLRLVSGVPSLQVVLNSIIK	266
CACNA1E	LSGILATAGTHFN-------------THVD>L<RTLRAVRVLRPLKLVSGIPSLQIVLKSIMK	216
CACNA1F	VVGLFSVLLEQGPGRPGDAPHTGGKPGGFD>V<KALRAFRVLRPLRLVSGVPSLHIVLNSIMK	232
CACNA1G	IAGMLEYSLDLQ---------------NVS>F<SAVRTVRVLRPLRAINRVPSMRILVTLLLD	206
CACNA1H	VAGMMEYSLDGH---------------NVS>L<SAIRTVRVLRPLRAINRVPSMRILVTLLLD	225
CACNA1I	MAGMVEYSLDLQ---------------NIN>L<SAIRTVRVLRPLKAINRVPSMRILVNLLLD	204
CACNA1S	FLGVFTVILEQVNVIQSHTAPMSSKGAGLD>V<KALRAFRVLRPLRLVSGVPSLQVVLNSIFK	191
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

There are currently no reported variants at residue 215 for SCN5A.