UniProtKB/SwissProt variant VAR

Variant information

Variant position:

284

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 Valine (V) to Glycine (G) at position 284 (V284G, p.Val284Gly).

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 hydrophobic (V) to glycine (G)

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:

Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 (MPPH3) [MIM:615938]: A syndrome characterized by megalencephaly, ventriculomegaly that may lead to hydrocephalus, and polymicrogyria; polydactyly may also be seen. There is considerable phenotypic similarity between this disorder and the megalencephaly-capillary malformation syndrome. {ECO:0000269|PubMed:24705253}. Note=The disease is caused by mutations affecting the gene represented in this entry.

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 MPPH3.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs777786993 [ dbSNP | Ensembl ]

Sequence information

Variant position:

284

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

Protein sequence length:

289

The length of the canonical sequence.

Location on the sequence:

DQRDGSKSEDELDQASTPTD V RDIDL

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                         DQRD-GSKSEDELDQASTPTDVRDIDL

Mouse                         EQHNAGSKSVEDPDQATTPTDVRDVD

Rat                           EQHN-GSKSVEDPDQATTPTDVRDVD

Pig                           DQ-D-GSKSEDELDQASTPTDVRDID

Bovine                        DQGD-GSKSEDELDQASTPTDVRDID

Chicken                       QQSN-PSKTIEELDQASTPTDVRDIN

Xenopus laevis                QQRN-SSKSVDELDQASTPTDVQDIN

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 – 289	G1/S-specific cyclin-D2
Modified residue	271 – 271	Phosphoserine
Modified residue	280 – 280	Phosphothreonine
Alternative sequence	210 – 289	Missing. In isoform 2.

Literature citations

De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.
Mirzaa G.M.; Parry D.A.; Fry A.E.; Giamanco K.A.; Schwartzentruber J.; Vanstone M.; Logan C.V.; Roberts N.; Johnson C.A.; Singh S.; Kholmanskikh S.S.; Adams C.; Hodge R.D.; Hevner R.F.; Bonthron D.T.; Braun K.P.; Faivre L.; Riviere J.B.; St-Onge J.; Gripp K.W.; Mancini G.M.; Pang K.; Sweeney E.; van Esch H.; Verbeek N.; Wieczorek D.; Steinraths M.; Majewski J.; Boycott K.M.; Pilz D.T.; Ross M.E.; Dobyns W.B.; Sheridan E.G.;
Nat. Genet. 46:510-515(2014)
Cited for: INVOLVEMENT IN MPPH3; VARIANTS MPPH3 ASN-280; ALA-280; ARG-281; LEU-281 AND GLY-284;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P30279: Variant p.Val284Gly