UniProtKB/SwissProt variant VAR

Variant information

Variant position:

120

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 Threonine (T) to Isoleucine (I) at position 120 (T120I, p.Thr120Ile).

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 (T) to medium size and hydrophobic (I)

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

-1

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:

Baraitser-Winter syndrome 2 (BRWS2) [MIM:614583]: A rare developmental disorder characterized by the combination of congenital ptosis, high-arched eyebrows, hypertelorism, ocular colobomata, and a brain malformation consisting of anterior-predominant lissencephaly. Other typical features include postnatal short stature and microcephaly, intellectual disability, seizures, and hearing loss. {ECO:0000269|PubMed:22366783}. 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 BRWS2.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs281875325 [ dbSNP | Ensembl ]

Sequence information

Variant position:

120

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

Protein sequence length:

375

The length of the canonical sequence.

Location on the sequence:

EHPVLLTEAPLNPKANREKM T QIMFETFNTPAMYVAIQAVL

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                         EHPVLLTEAPLNPKANREKMTQIMFETFNTPAMYVAIQAVL

Mouse                         EHPVLLTEAPLNPKANREKMTQIMFETFNTPAMYVAIQAVL

Rat                           EHPVLLTEAPLNPKANREKMTQIMFETFNTPAMYVAIQAVL

Bovine                        EHPVLLTEAPLNPKANREKMTQIMFETFNTPAMYVAIQAVL

Chicken                       EHPVLLTEAPLNPKANREKMTQIMFETFNTPAMYVAIQAVL

Xenopus laevis                EHPVLLTEAPLNPKANREKMTQIMFETFNTPAMYVAIQAVL

Xenopus tropicalis            EHPVLLTEAPLNPKANREKMTQIMFETFNTPAMYVAIQAVL

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 – 375	Actin, cytoplasmic 2
Chain	2 – 375	Actin, cytoplasmic 2, N-terminally processed

Literature citations

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
Riviere J.B.; van Bon B.W.; Hoischen A.; Kholmanskikh S.S.; O'Roak B.J.; Gilissen C.; Gijsen S.; Sullivan C.T.; Christian S.L.; Abdul-Rahman O.A.; Atkin J.F.; Chassaing N.; Drouin-Garraud V.; Fry A.E.; Fryns J.P.; Gripp K.W.; Kempers M.; Kleefstra T.; Mancini G.M.; Nowaczyk M.J.; van Ravenswaaij-Arts C.M.; Roscioli T.; Marble M.; Rosenfeld J.A.; Siu V.M.; de Vries B.B.; Shendure J.; Verloes A.; Veltman J.A.; Brunner H.G.; Ross M.E.; Pilz D.T.; Dobyns W.B.;
Nat. Genet. 44:440-444(2012)
Cited for: VARIANTS BRWS2 ILE-120; VAL-135; PHE-155; LYS-203; TRP-254 AND TRP-256;

UniProtKB/Swiss-Prot P63261: Variant p.Thr120Ile