Variant position: 325 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 502 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 AYSSVSGLCHLHTEIFSTQG KPAIAHRDLKSKNILVKKNGT
Mouse AYSSVSGLCHLHTEIFSTQG KPAIAHRDLKSKNILVKKNGT
Chicken AYSSVSGLCHLHTGIFSTQG KPAIAHRDLKSKNILVKKNGT
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
14 – 502 Bone morphogenetic protein receptor type-1B
149 – 502 Cytoplasmic
204 – 494 Protein kinase
332 – 332 Proton acceptor
Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1.
Racacho L.; Byrnes A.M.; MacDonald H.; Dranse H.J.; Nikkel S.M.; Allanson J.; Rosser E.; Underhill T.M.; Bulman D.E.;
Eur. J. Hum. Genet. 23:1640-1645(2015)
Cited for: INVOLVEMENT IN BDA1D; VARIANT BDA1D ASN-325; CHARACTERIZATION OF VARIANT BDA1D ASN-325;
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.