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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q13873: Variant p.Arg491Trp

Bone morphogenetic protein receptor type-2
Gene: BMPR2
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Variant information Variant position: help 491 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Arginine (R) to Tryptophan (W) at position 491 (R491W, p.Arg491Trp). 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: help Change from large size and basic (R) to large size and aromatic (W) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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
Variant description: help In PPH1; loss of function in BMP signaling pathway via SMAD proteins activation; no effect on localization to the cell surface; no effect on BMP4 binding; when transfected in epithelial cells it results in constitutive p38MAPK phosphorylation consistent with a gain of function in the activation of p38MAPK cascade. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 491 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1038 The length of the canonical sequence.
Location on the sequence: help LAVRSLKETIEDCWDQDAEA R LTAQCAEERMAELMMIWERN 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         LAVRSLKETIEDCWDQDAEARLTAQCAEERMAELMMIWERN

Mouse                         LAVRSLKETIEDCWDQDAEARLTAQCAEERMAELMMIWERN
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 27 – 1038 Bone morphogenetic protein receptor type-2
Topological domain 172 – 1038 Cytoplasmic
Domain 203 – 504 Protein kinase



Literature citations
Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene.
Deng Z.; Morse J.H.; Slager S.L.; Cuervo N.; Moore K.J.; Venetos G.; Kalachikov S.; Cayanis E.; Fischer S.G.; Barst R.J.; Hodge S.E.; Knowles J.A.;
Am. J. Hum. Genet. 67:737-744(2000)
Cited for: VARIANTS PPH1 GLN-491 AND TRP-491; Functional analysis of bone morphogenetic protein type II receptor mutations underlying primary pulmonary hypertension.
Rudarakanchana N.; Flanagan J.A.; Chen H.; Upton P.D.; Machado R.; Patel D.; Trembath R.C.; Morrell N.W.;
Hum. Mol. Genet. 11:1517-1525(2002)
Cited for: CHARACTERIZATION OF VARIANTS PPH1 TYR-60; TYR-117; TRP-118; ARG-123; SER-123; TYR-347; ARG-420; ARG-483; GLY-485; GLN-491; TRP-491; THR-512 AND LYS-519; FUNCTION;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.