Sequence information
Variant position: 138 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:
CSTDLCNVNFTENFPPPDTT
P LSPPHSFNRDETIIIALASV
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 CSTDLCNVNFTENFPPPDTTP LSPPHSFNRDETIIIALASV
Mouse CSTDLCNVNFTENFPPPDTTP LSPPHSFNRDETIIIALASV
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
Glycosylation
126 – 126
N-linked (GlcNAc...) asparagine
Literature citations
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;
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.