UniProtKB/SwissProt variant VAR

Variant information

Variant position:

84

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

Type of variant:

LP/P [Disclaimer]

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 Cysteine (C) to Phenylalanine (F) at position 84 (C84F, p.Cys84Phe).

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 aromatic (F)

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

BLOSUM score:

-2

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 PPH1; alters alternative splicing of BMPR2.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs1085307197 [ dbSNP | Ensembl ]

Sequence information

Variant position:

84

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

Protein sequence length:

1038

The length of the canonical sequence.

Location on the sequence:

STCYGLWEKSKGDINLVKQG C WSHIGDPQECHYEECVVTTT

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                         STCYGLWEKSKGDINLVKQGCWSHIGDPQECHYEECVVTTT

Mouse                         STCYGLWEKSKGDINLVKQGCWSHIGDPQECHYEECVVTTT

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	27 – 1038	Bone morphogenetic protein receptor type-2
Topological domain	27 – 150	Extracellular
Disulfide bond	60 – 84
Beta strand	76 – 84

Literature citations

Novel mutations in BMPR2, ACVRL1 and KCNA5 genes and hemodynamic parameters in patients with pulmonary arterial hypertension.
Pousada G.; Baloira A.; Vilarino C.; Cifrian J.M.; Valverde D.;
PLoS ONE 9:E100261-E100261(2014)
Cited for: VARIANTS PPH1 LEU-77; PHE-84; TYR-87; LEU-92; PRO-162; ASN-264 AND MET-341; VARIANT ASN-775;

Molecular and functional characterization of the BMPR2 gene in Pulmonary Arterial Hypertension.
Pousada G.; Lupo V.; Castro-Sanchez S.; Alvarez-Satta M.; Sanchez-Monteagudo A.; Baloira A.; Espinos C.; Valverde D.;
Sci. Rep. 7:1923-1923(2017)
Cited for: VARIANTS PPH1 ARG-64; PHE-84; HIS-109; ALA-138; 218-TYR--LEU-1038 DEL; GLY-248; 298-TRP--LEU-1038 DEL AND ARG-467; CHARACTERIZATION OF VARIANTS PPH1 ARG-64; LEU-77; TYR-87; LEU-92; HIS-109; ALA-138; PRO-162; 218-TYR--LEU-1038 DEL; GLY-248; ASN-264; 298-TRP--LEU-1038 DEL; MET-341 AND ARG-467; CHARACTERIZATION OF VARIANT ASN-775;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q13873: Variant p.Cys84Phe