UniProtKB/Swiss-Prot P35498: Variant p.Tyr790Phe

Sodium channel protein type 1 subunit alpha
Gene: SCN1A
Feedback?

Variant information Variant position:

790 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Tyrosine (Y) to Phenylalanine (F) at position 790 (Y790F, p.Tyr790Phe). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:

Similar physico-chemical property. Both residues are large size and aromatic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

3 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page
Variant description:

Found in patients with Panayiotopoulos syndrome; likely pathogenic. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs121918782 [ dbSNP | Ensembl ]

Sequence information Variant position:

790 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

2009 The length of the canonical sequence.
Location on the sequence:

VDLAITICIVLNTLFMAMEH Y PMTDHFNNVLTVGNLVFTGI The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation:

The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         VDLAITICIVLNTLFMAMEHYPMTDHFNNVLTVGNLVFTGI

Mouse                         VDLAITICIVLNTLFMAMEHYPMTEHFNHVLTVGNLVFTGI

Rat                           VDLAITICIVLNTLFMAMEHYPMTEHFNHVLTVGNLVFTGI

Sequence annotation in neighborhood:

The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:

Type: the type of sequence feature.
Positions: endpoints of the sequence feature.
Description: contains additional information about the feature.

Type	Positions	Description
Chain	1 – 2009	Sodium channel protein type 1 subunit alpha
Topological domain	788 – 797	Extracellular
Repeat	750 – 1022	II

Literature citations
SCN1A mutation associated with atypical Panayiotopoulos syndrome.
Grosso S.; Orrico A.; Galli L.; Di Bartolo R.; Sorrentino V.; Balestri P.;
Neurology 69:609-611(2007)
Cited for: VARIANT PHE-790; POSSIBLE INVOLVEMENT IN PANAYIOTOPOULOS SYNDROME; Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies.
Orrico A.; Galli L.; Grosso S.; Buoni S.; Pianigiani R.; Balestri P.; Sorrentino V.;
Clin. Genet. 75:579-581(2009)
Cited for: VARIANTS GLN-542 AND PHE-790; VARIANT FEB3A ASP-1308; VARIANT DRVT CYS-1648; VARIANTS GEFSP2 THR-899; ILE-976; ASN-1249 AND MET-1250; POSSIBLE INVOLVEMENT IN PANAYIOTOPOULOS SYNDROME;

Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.