Paralogue Annotation for SCN5A residue 180

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 180
Reference Amino Acid: G - Glycine
Protein Domain: TM Domain 1

Paralogue Variants mapped to SCN5A residue 180

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	G177E	Myoclonic epilepsy of infancy	High	9	12821740, 17054685, 27236449
SCN1A	G177R	Dravet syndrome	High	9	18076640, 25525159
CACNA1F	G150R	Night blindness, congenital stationary, incomplete	High	9	12187427
SCN1A	G177V	Dravet syndrome	High	9	26252084

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	PPPWT--KYVEYTFTA-IYTFESLVKILAR>G<FCLHAFTFLRDPWNWLDFSVIIMAYVSENI	210
SCN1A	PPDWT--KNVEYTFTG-IYTFESLIKIIAR>G<FCLEDFTFLRDPWNWLDFTVITFAYVTEFV	207
SCN2A	PPDWT--KNVEYTFTG-IYTFESLIKILAR>G<FCLEDFTFLRDPWNWLDFTVITFAYVTEFV	208
SCN3A	PPDWT--KNVEYTFTG-IYTFESLIKILAR>G<FCLEDFTFLRDPWNWLDFSVIVMAYVTEFV	207
SCN4A	PPPWS--KNVEYTFTG-IYTFESLIKILAR>G<FCVDDFTFLRDPWNWLDFSVIMMAYLTEFV	210
SCN7A	LPKWR--PVLENTLLG-IYTFEILVKLFAR>G<VWAGSFSFLGDPWNWLDFSVTVFEVIIRYS	197
SCN8A	PPDWS--KNVEYTFTG-IYTFESLVKIIAR>G<FCIDGFTFLRDPWNWLDFSVIMMAYITEFV	211
SCN9A	PPDWT--KNVEYTFTG-IYTFESLVKILAR>G<FCVGEFTFLRDPWNWLDFVVIVFAYLTEFV	205
SCN10A	LPE-----KIEYVFTV-IYTFEALIKILAR>G<FCLNEFTYLRDPWNWLDFSVITLAYVGTAI	206
SCN11A	NSNNT--DIAECVFTG-IYIFEALIKILAR>G<FILDEFSFLRDPWNWLDSIVIGIAIVSYIP	212
CACNA1A	TPMSERLDDTEPYFIG-IFCFEAGIKIIAL>G<FAFHKGSYLRNGWNVMDFVVVLTGILATVG	186
CACNA1B	TPMSERLDDTEPYFIG-IFCFEAGIKIIAL>G<FVFHKGSYLRNGWNVMDFVVVLTGILATAG	183
CACNA1C	NATNSNLERVEYLFLI-IFTVEAFLKVIAY>G<LLFHPNAYLRNGWNLLDFIIVVVGLFSAIL	212
CACNA1D	NSTNHNLEKVEYAFLI-IFTVETFLKIIAY>G<LLLHPNAYVRNGWNLLDFVIVIVGLFSVIL	214
CACNA1E	TPMSRRLEKTEPYFIG-IFCFEAGIKIVAL>G<FIFHKGSYLRNGWNVMDFIVVLSGILATAG	177
CACNA1F	NTANHNLEQVEYVFLV-IFTVETVLKIVAY>G<LVLHPSAYIRNGWNLLDFIIVVVGLFSVLL	180
CACNA1G	DSQRCRILQAFDDFIFAFFAVEMVVKMVAL>G<I-FGKKCYLGDTWNRLDFFIVIAGMLEYSL	169
CACNA1H	GSERCNILEAFDAFIFAFFAVEMVIKMVAL>G<L-FGQKCYLGDTWNRLDFFIVVAGMMEYSL	188
CACNA1I	LSDRCKILQVFDDFIFIFFAMEMVLKMVAL>G<I-FGKKCYLGDTWNRLDFFIVMAGMVEYSL	167
CACNA1S	NSLNLGLEKLEYFFLI-VFSIEAAMKIIAY>G<FLFHQDAYLRSGWNVLDFTIVFLGVFTVIL	139
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Gly180Val	c.539G>T	Unknown			SIFT: Polyphen: