Sequence information
Variant position: 863 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:
AQEMLQNQFIGEDTRLNINS
S PDEHEPLLRREQQAGHDEGV
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 AQEMLQNQFIGEDTRLNINSS PDEHEPLLRREQQAGHDEGV
Mouse SQEMLQNQFIGEDTRLNINSS PDEHEPLLRREQQAGHDEGV
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
172 – 1038
Cytoplasmic
Alternative sequence
531 – 1038
Missing. In isoform 2.
Literature citations
Functional changes in pulmonary arterial endothelial cells associated with BMPR2 mutations.
Wang H.; Ji R.; Meng J.; Cui Q.; Zou W.; Li L.; Wang G.; Sun L.; Li Z.; Huo L.; Fan Y.; Penny D.J.;
PLoS ONE 9:E106703-E106703(2014)
Cited for: VARIANTS PPH1 CYS-67 AND ASN-863; CHARACTERIZATION OF VARIANTS PPH1 CYS-67 AND ASN-863; SUBCELLULAR LOCATION;
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.