UniProtKB/SwissProt variant VAR

Variant information

Variant position:

295

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 Arginine (R) to Cysteine (C) at position 295 (R295C, p.Arg295Cys).

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 large size and basic (R) to medium size and polar (C)

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 GSD1A.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs104894563 [ dbSNP | Ensembl ]

Sequence information

Variant position:

295

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

Protein sequence length:

357

The length of the canonical sequence.

Location on the sequence:

LNSSMYRESCKGKLSKWLPF R LSSIVASLVLLHVFDSLKPP

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                         LNSSMYRESCKGKLSKWLPFRLSSIVASLVLLHVFDSLKPP

Mouse                         LNSSMYRKSCKGELSKLLPFRFACIVASLVLLHLFDSLKPP

Rat                           LNSSMYRKSCKGELRKSLPFRLACIVASLGLLHLFDSLKPP

Bovine                        LNSSMYRESCKGKLSKWFPFRLSCIVASLVLLHLFDSLKPP

Cat                           LNSSMYRESCKGTLSKWFPFRLSCIVVSLILLHLFDSLKPP

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 – 357	Glucose-6-phosphatase catalytic subunit 1
Transmembrane	292 – 312	Helical
Alternative sequence	176 – 356	Missing. In isoform 2.
Mutagenesis	307 – 307	H -> A. Partial loss of glucose-6-phosphatase activity.

Literature citations

Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia.
Stroppiano M.; Regis S.; DiRocco M.; Caroli F.; Gandullia P.; Gatti R.;
J. Inherit. Metab. Dis. 22:43-49(1999)
Cited for: VARIANTS GSD1A VAL-38; ARG-63; CYS-83; VAL-184; ARG-222; VAL-270; CYS-295; PRO-298 AND PHE-338;

Identification of mutations in the glucose-6-phosphatase gene in Czech and Slovak patients with glycogen storage disease type Ia, including novel mutations K76N, V166A and 540del5.
Kozak L.; Francova H.; Hrabincova E.; Stastna S.; Peskova K.; Elleder M.;
Hum. Mutat. 16:89-89(2000)
Cited for: VARIANTS GSD1A ASN-76; ARG-77; CYS-83; ALA-166; ARG-188 AND CYS-295;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P35575: Variant p.Arg295Cys