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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q13873: Variant p.Cys60Tyr

Bone morphogenetic protein receptor type-2
Gene: BMPR2
Variant information Variant position: help 60 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 Cysteine (C) to Tyrosine (Y) at position 60 (C60Y, p.Cys60Tyr). 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 medium size and polar (C) to large size and aromatic (Y) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In PPH1; loss of function in BMP signaling pathway via SMAD proteins activation; does not localize to the cell surface; 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 60 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 YQQDLGIGESRISHENGTIL C SKGSTCYGLWEKSKGDINLV 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.


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.
Chain 27 – 1038 Bone morphogenetic protein receptor type-2
Topological domain 27 – 150 Extracellular
Glycosylation 55 – 55 N-linked (GlcNAc...) asparagine
Disulfide bond 34 – 66
Disulfide bond 60 – 84

Literature citations
Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family.
Thomson J.R.; Machado R.D.; Pauciulo M.W.; Morgan N.V.; Humbert M.; Elliott G.C.; Ward K.; Yacoub M.; Mikhail G.; Rogers P.; Newman J.H.; Wheeler L.; Higenbottam T.; Gibbs J.S.R.; Egan J.; Crozier A.; Peacock A.; Allcock R.; Corris P.; Loyd J.E.; Trembath R.C.; Nichols W.C.;
J. Med. Genet. 37:741-745(2000)
Cited for: VARIANTS PPH1 TYR-60; TYR-117 AND ARG-483; 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.