Variant position: 136 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 582 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 RLIVPPHLGYGSIGLAGLIP PDATLYFDVVLLDVWNKEDTV
Mouse RLIVPPHLGYGSIGVAGLIP PDATLYFDVVLLDVWNKADTV
Bovine RLIVPPHLGYGSIGVAGLIP PDATLYFDVVLLDVWNKEDTV
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 – 582 Peptidyl-prolyl cis-trans isomerase FKBP10
62 – 150 PPIase FKBP-type 1
2 – 177 Missing. In isoform 2.
Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.
Schwarze U.; Cundy T.; Pyott S.M.; Christiansen H.E.; Hegde M.R.; Bank R.A.; Pals G.; Ankala A.; Conneely K.; Seaver L.; Yandow S.M.; Raney E.; Babovic-Vuksanovic D.; Stoler J.; Ben-Neriah Z.; Segel R.; Lieberman S.; Siderius L.; Al-Aqeel A.; Hannibal M.; Hudgins L.; McPherson E.; Clemens M.; Sussman M.D.; Steiner R.D.; Mahan J.; Smith R.; Anyane-Yeboa K.; Wynn J.; Chong K.; Uster T.; Aftimos S.; Sutton V.R.; Davis E.C.; Kim L.S.; Weis M.A.; Eyre D.; Byers P.H.;
Hum. Mol. Genet. 22:1-17(2013)
Cited for: VARIANTS BRKS1 LYS-113; GLN-115 AND LEU-136; INVOLVEMENT IN OI11;
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