UniProtKB/Swiss-Prot Q99250: Variant p.Gly1522Ala

Sodium channel protein type 2 subunit alpha
Gene: SCN2A
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Variant information Variant position:

1522 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US 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 Glycine (G) to Alanine (A) at position 1522 (G1522A, p.Gly1522Ala). 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:

Change from glycine (G) to small size and hydrophobic (A) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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 DEE11 and EA9; uncertain significance; no effect on voltage-gated sodium channel activity; higher current density when associated with G-1882. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs147522594 [ dbSNP | Ensembl ]

Sequence information Variant position:

1522 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

2005 The length of the canonical sequence.
Location on the sequence:

KKLGSKKPQKPIPRPANKFQ G MVFDFVTKQVFDISIMILIC 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                         KKLGSKKPQKPIPRPANKFQGMVFDFVTKQVFDISIMILIC

Mouse                         KKLGSKKPQKPIPRPANKFQGMVFDFVTKQVFDISIMILIC

Rat                           KKLGSKKPQKPIPRPANKFQGMVFDFVTKQVFDISIMILIC

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 – 2005	Sodium channel protein type 2 subunit alpha
Topological domain	1470 – 1532	Cytoplasmic
Repeat	1513 – 1811	IV
Modified residue	1506 – 1506	Phosphoserine; by PKC
Helix	1520 – 1528

Literature citations
Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia.
Schwarz N.; Hahn A.; Bast T.; Mueller S.; Loeffler H.; Maljevic S.; Gaily E.; Prehl I.; Biskup S.; Joensuu T.; Lehesjoki A.E.; Neubauer B.A.; Lerche H.; Hedrich U.B.;
J. Neurol. 263:334-343(2016)
Cited for: INVOLVEMENT IN EA9; VARIANTS EA9 VAL-263; ALA-1522 AND GLY-1882; CHARACTERIZATION OF VARIANTS EA9 ALA-1522 AND GLY-1882; Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
Mercimek-Mahmutoglu S.; Patel J.; Cordeiro D.; Hewson S.; Callen D.; Donner E.J.; Hahn C.D.; Kannu P.; Kobayashi J.; Minassian B.A.; Moharir M.; Siriwardena K.; Weiss S.K.; Weksberg R.; Snead O.C. III;
Epilepsia 56:707-716(2015)
Cited for: VARIANTS DEE11 GLY-220 AND ALA-1522;

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.