UniProtKB/SwissProt variant VAR

Variant information

Variant position:

266

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

Type of variant:

Disease [Disclaimer]

The variants are classified into three categories: Disease, Polymorphism and Unclassified.

Disease: Variants implicated in disease according to literature reports.
Polymorphism: Variants not reported to be implicated in disease.
Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:

From Cysteine (C) to Arginine (R) at position 266 (C266R, p.Cys266Arg).

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

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

Involvement in disease:

Opitz GBBB syndrome 1 (GBBB1) [MIM:300000]: A congenital midline malformation syndrome characterized by hypertelorism, genital-urinary defects such as hypospadias in males and splayed labia in females, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay and congenital heart defects. {ECO:0000269|PubMed:11030761, ECO:0000269|PubMed:15558842, ECO:0000269|PubMed:9354791, ECO:0000269|PubMed:9718340}. Note=The disease is caused by mutations affecting the gene represented in this entry. MID1 mutations produce proteins with a decreased affinity for microtubules.

The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:

In GBBB1.

Any additional useful information about the variant.

Sequence information

Variant position:

266

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

Protein sequence length:

667

The length of the canonical sequence.

Location on the sequence:

QTCQHVEVNASRQEAKLTEE C DLLIEIIQQRRQIIGTKIKE

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                         QTCQHVEVNASRQEAKLTEECDLLIEIIQQRRQIIGTKIKE

Mouse                         QTCQHVEVNASRQEAKLTEECDLLIEIIQQRRQIIGTKIKE

Rat                           QTCQHVEVNASRQEAKLTEECDLLIEIIQERRQIIGTKIKE

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 – 667	E3 ubiquitin-protein ligase Midline-1

Literature citations

Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain.
Gaudenz K.; Roessler E.; Quaderi N.A.; Franco B.; Feldman G.J.; Gasser D.L.; Wittwer B.; Horst J.; Montini E.; Opitz J.M.; Ballabio A.; Muenke M.;
Am. J. Hum. Genet. 63:703-710(1998)
Cited for: VARIANTS GBBB1 ARG-266 AND THR-536;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O15344: Variant p.Cys266Arg