Paralogue Annotation for SCN5A residue 214

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 214
Reference Amino Acid: N - Asparagine
Protein Domain: TM Domain 1

Paralogue Variants mapped to SCN5A residue 214

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN2A	N212D	Ohtahara syndrome	High	8	23935176
SCN8A	N215D	Epileptic encephalopathy	High	8	25568300

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	IIMAYVSENIKLG----------------->N<LSALRTFRVLRALKTISVIPGLKTIVGALI	244
SCN1A	ITFAYVTEFVDLG----------------->N<VSALRTFRVLRALKTISVIPGLKTIVGALI	241
SCN2A	ITFAYVTEFVDLG----------------->N<VSALRTFRVLRALKTISVIPGLKTIVGALI	242
SCN3A	IVMAYVTEFVDLG----------------->N<VSALRTFRVLRALKTISVIPGLKTIVGALI	241
SCN4A	IMMAYLTEFVDLG----------------->N<ISALRTFRVLRALKTITVIPGLKTIVGALI	244
SCN7A	TVFEVIIRYSPLD----------------->F<IPTLQTARTLRILKIIPLNQGLKSLVGVLI	231
SCN8A	IMMAYITEFVNLG----------------->N<VSALRTFRVLRALKTISVIPGLKTIVGALI	245
SCN9A	IVFAYLTEFVNLG----------------->N<VSALRTFRVLRALKTISVIPGLKTIVGALI	239
SCN10A	ITLAYVGTAIDLR----------------->G<ISGLRTFRVLRALKTVSVIPGLKVIVGALI	240
SCN11A	IGIAIVSYIPGIT----------------I>K<LLPLRTFRVFRALKAISVVSRLKVIVGALL	247
CACNA1A	VLTGILATVGTEF----------------->D<LRTLRAVRVLRPLKLVSGIPSLQVVLKSIM	220
CACNA1B	VLTGILATAGTDF----------------->D<LRTLRAVRVLRPLKLVSGIPSLQVVLKSIM	217
CACNA1C	VVVGLFSAILEQATKA-DGANALGGKGAGF>D<VKALRAFRVLRPLRLVSGVPSLQVVLNSII	262
CACNA1D	VIVGLFSVILEQLTKETEGGNHSSGKSGGF>D<VKALRAFRVLRPLRLVSGVPSLQVVLNSII	265
CACNA1E	VLSGILATAGTHFN-------------THV>D<LRTLRAVRVLRPLKLVSGIPSLQIVLKSIM	215
CACNA1F	VVVGLFSVLLEQGPGRPGDAPHTGGKPGGF>D<VKALRAFRVLRPLRLVSGVPSLHIVLNSIM	231
CACNA1G	VIAGMLEYSLDLQ---------------NV>S<FSAVRTVRVLRPLRAINRVPSMRILVTLLL	205
CACNA1H	VVAGMMEYSLDGH---------------NV>S<LSAIRTVRVLRPLRAINRVPSMRILVTLLL	224
CACNA1I	VMAGMVEYSLDLQ---------------NI>N<LSAIRTVRVLRPLKAINRVPSMRILVNLLL	203
CACNA1S	VFLGVFTVILEQVNVIQSHTAPMSSKGAGL>D<VKALRAFRVLRPLRLVSGVPSLQVVLNSIF	190
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

There are currently no reported variants at residue 214 for SCN5A.