UniProtKB/SwissProt variant VAR

Variant information

Variant position:

356

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 Glycine (G) to Aspartate (D) at position 356 (G356D, p.Gly356Asp).

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 medium size and acidic (D)

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

Variant description:

In FOP; variant phenotype.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs121912679 [ dbSNP | Ensembl ]

Sequence information

Variant position:

356

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

Protein sequence length:

509

The length of the canonical sequence.

Location on the sequence:

DLKSKNILVKKNGQCCIADL G LAVMHSQSTNQLDVGNNPRV

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                         DLKSKNILVKKNGQCCIADLGLAVMHSQSTNQLDVGNNPRV

Mouse                         DLKSKNILVKKNGQCCIADLGLAVMHSQSTNQLDVGNNPRV

Rat                           DLKSKNILVKKNGQCCIADLGLAVMHSQSTNQLDVGNNPRV

Bovine                        DLKSKNILVKKNGQCCIADLGLAVMHSQSTNQLDVGNNPRV

Chicken                       DLKSKNILVKKNGQCCIADLGLAVMHSQSTNQLDVGNNPRV

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	21 – 509	Activin receptor type-1
Topological domain	147 – 509	Cytoplasmic
Domain	208 – 502	Protein kinase
Active site	336 – 336	Proton acceptor

Literature citations

Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1.
Kaplan F.S.; Xu M.; Seemann P.; Connor J.M.; Glaser D.L.; Carroll L.; Delai P.; Fastnacht-Urban E.; Forman S.J.; Gillessen-Kaesbach G.; Hoover-Fong J.; Koester B.; Pauli R.M.; Reardon W.; Zaidi S.A.; Zasloff M.; Morhart R.; Mundlos S.; Groppe J.; Shore E.M.;
Hum. Mutat. 30:379-390(2009)
Cited for: VARIANTS FOP 197-PRO-PHE-198 DELINS LEU; HIS-206; GLU-207; ARG-328; TRP-328; GLU-328; ASP-356 AND PRO-375;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q04771: Variant p.Gly356Asp