Variant position: 470 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 532 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 VEEYQLPYYNMVPSDPSYED MREVVCVKRLRPIVSNRWNSD
Mouse VEEYQLPYYNMVPSDPSYED MREVVCVKRLRPIVSNRWNSD
Rat VEEYQLPYYNMVPSDPSYED MREVVCVKRLRPIVSNRWNSD
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
24 – 532 Bone morphogenetic protein receptor type-1A
177 – 532 Cytoplasmic
234 – 525 Protein kinase
Identification of a novel BMPR1A germline mutation in a Korean juvenile polyposis patient without SMAD4 mutation.
Kim I.J.; Park J.H.; Kang H.C.; Kim K.H.; Kim J.H.; Ku J.L.; Kang S.B.; Park S.Y.; Lee J.S.; Park J.G.;
Clin. Genet. 63:126-130(2003)
Cited for: VARIANT JPS THR-470;
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