UniProtKB/Swiss-Prot O76024: Variant p.Gly576Ser

Wolframin
Gene: WFS1
Feedback?

Variant information Variant position:

576 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 Glycine (G) to Serine (S) at position 576 (G576S, p.Gly576Ser). 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 polar (S) 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
Polymorphism:

Arg-456-His, Arg-611-His and Ile-720-Val polymorphisms are in tight linkage disequilibrium with one another and associated with type 1 diabetes in Japanese. Additional information on the polymorphism described.
Other resources:

Links to websites of interest for the variant.

Variant rs1805069 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

LLRASIGYFLFLFALPILVA G LALVGVLQFARWFTSLELTK 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                         LLRASIGYFLFLFALPIL-VAGLALVGVLQFARWFTSLELTK

Mouse                         LVRASIGYFLFLFALPIL-VAGLALMGTVQFARWFLSLDLT

Drosophila                    VMRAALGLAGIVLFLPLFGIVALLVPVFVAIDSLGLASEQL

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 – 890	Wolframin
Transmembrane	563 – 583	Helical

Literature citations
Missense variations of the gene responsible for Wolfram syndrome (WFS1/wolframin) in Japanese: possible contribution of the Arg456His mutation to type 1 diabetes as a nonautoimmune genetic basis.
Awata T.; Inoue K.; Kurihara S.; Ohkubo T.; Inoue I.; Abe T.; Takino H.; Kanazawa Y.; Katayama S.;
Biochem. Biophys. Res. Commun. 268:612-616(2000)
Cited for: VARIANTS HIS-456; SER-576; HIS-611; CYS-653 AND VAL-720; WFS1 gene mutation search in depressive patients: detection of five missense polymorphisms but no association with depression or bipolar affective disorder.
Ohtsuki T.; Ishiguro H.; Yoshikawa T.; Arinami T.;
J. Affect. Disord. 58:11-17(2000)
Cited for: VARIANTS HIS-456; SER-576; HIS-611; VAL-720 AND LYS-737;

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.