UniProtKB/SwissProt variant VAR

Variant information

Variant position:

1327

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:

LP/P [Disclaimer]

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 Isoleucine (I) to Valine (V) at position 1327 (I1327V, p.Ile1327Val).

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 medium size and hydrophobic.

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:

In DEE13.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs879255704 [ dbSNP | Ensembl ]

Sequence information

Variant position:

1327

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:

1980

The length of the canonical sequence.

Location on the sequence:

LSRFEGMRVVVNALVGAIPS I MNVLLVCLIFWLIFSIMGVN

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                         LSRFEGMRVVVNALVGAIPSIMNVLLVCLIFWLIFSIMGVN

Mouse                         LSRFEGMRVVVNALVGAIPSIMNVLLVCLIFWLIFSIMGVN

Rat                           LSRFEGMRVVVNALVGAIPSIMNVLLVCLIFWLIFSIMGVN

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 – 1980	Sodium channel protein type 8 subunit alpha
Transmembrane	1327 – 1346	Helical; Name=S5 of repeat III
Repeat	1180 – 1495	III
Alternative sequence	1284 – 1980	Missing. In isoform 4.

Literature citations

De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders.
Vaher U.; Noukas M.; Nikopensius T.; Kals M.; Annilo T.; Nelis M.; Ounap K.; Reimand T.; Talvik I.; Ilves P.; Piirsoo A.; Seppet E.; Metspalu A.; Talvik T.;
J. Child Neurol. 0:0-0(2013)
Cited for: VARIANT DEE13 VAL-1327;

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
Trump N.; McTague A.; Brittain H.; Papandreou A.; Meyer E.; Ngoh A.; Palmer R.; Morrogh D.; Boustred C.; Hurst J.A.; Jenkins L.; Kurian M.A.; Scott R.H.;
J. Med. Genet. 53:310-317(2016)
Cited for: VARIANTS DEE13 THR-408; SER-1323; VAL-1327; SER-1754 AND PRO-1865;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9UQD0: Variant p.Ile1327Val