Variant position: 124 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 EGSDFQCKDSPKAQLRRTIE CCRTNLCNQYLQPTLPPVVIG
Mouse EGSDFQCKDSPKAQLRRTIE CCRTNLCNQYLQPTLPPVVIG
Rat EGSDFQCKDSPKAQLRRTIE CCRTNLCNQYLQPTLPPVVIG
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
24 – 152 Extracellular
110 – 124
120 – 125
Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes.
Zhou X.-P.; Woodford-Richens K.; Lehtonen R.; Kurose K.; Aldred M.; Hampel H.; Launonen V.; Virta S.; Pilarski R.; Salovaara R.; Bodmer W.F.; Conrad B.A.; Dunlop M.; Hodgson S.V.; Iwama T.; Jaervinen H.; Kellokumpu I.; Kim J.C.; Leggett B.; Markie D.; Mecklin J.-P.; Neale K.; Phillips R.; Piris J.; Rozen P.; Houlston R.S.; Aaltonen L.A.; Tomlinson I.P.M.; Eng C.;
Am. J. Hum. Genet. 69:704-711(2001)
Cited for: VARIANTS JPS ARG-124; ASP-338 AND TYR-376;
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