Variant position: 485 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 AWKENSLAVRSLKETIEDCW DQDAEARLTAQCAEERMAELM
Mouse AWKENSLAVRSLKETIEDCW DQDAEARLTAQCAEERMAELM
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
172 – 1038 Cytoplasmic
203 – 504 Protein kinase
Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension.
Lane K.B.; Machado R.D.; Pauciulo M.W.; Thomson J.R.; Phillips J.A. III; Loyd J.E.; Nichols W.C.; Trembath R.C.; Aldred M.; Brannon C.A.; Conneally P.M.; Foroud T.; Fretwell N.; Gaddipati R.; Koller D.; Loyd E.J.; Morgan N.V.; Newman J.H.; Prince M.A.; Vilarino Gueell C.; Wheeler L.;
Nat. Genet. 26:81-84(2000)
Cited for: VARIANTS PPH1 TRP-118; TYR-347 AND GLY-485;
BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension.
Machado R.D.; Pauciulo M.W.; Thomson J.R.; Lane K.B.; Morgan N.V.; Wheeler L.; Phillips J.A. III; Newman J.H.; Williams D.; Galie N.; Manes A.; McNeil K.; Yacoub M.; Mikhail G.; Rogers P.; Corris P.; Humbert M.; Donnai D.; Martensson G.; Tranebjaerg L.; Loyd J.E.; Trembath R.C.; Nichols W.C.;
Am. J. Hum. Genet. 68:92-102(2001)
Cited for: VARIANTS PPH1 ARG-123; SER-123; ARG-420 AND THR-512; VARIANT ASP-224; CHARACTERIZATION OF VARIANT PPH1 GLY-485;
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.