Variant position: 117 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:
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 EECVVTTTPPSIQNGTYRFC CCSTDLCNVNFTENFPPPDTT
Mouse EECVVTTTPPSIQNGTYRFC CCSTDLCNVNFTENFPPPDTT
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
27 – 1038 Bone morphogenetic protein receptor type-2
27 – 150 Extracellular
110 – 110 N-linked (GlcNAc...) asparagine
126 – 126 N-linked (GlcNAc...) asparagine
94 – 117
113 – 118
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;
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