Sequence information
Variant position: 115 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:
VGRLITGMDRGLMGMCVNER
R RLIVPPHLGYGSIGLAGLIP
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 VGRLITGMDRGLMGMCVNERR RLIVPPHLGYGSIGLAGLIP
Mouse VGRLITGMDRGLMGMCVNERR RLIVPPHLGYGSIGVAGLIP
Bovine VGRLITGMDRGLMGMCVNERR RLIVPPHLGYGSIGVAGLIP
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
Chain
27 – 582
Peptidyl-prolyl cis-trans isomerase FKBP10
Domain
62 – 150
PPIase FKBP-type 1
Alternative sequence
2 – 177
Missing. In isoform 2.
Literature citations
Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome.
Kelley B.P.; Malfait F.; Bonafe L.; Baldridge D.; Homan E.; Symoens S.; Willaert A.; Elcioglu N.; Van Maldergem L.; Verellen-Dumoulin C.; Gillerot Y.; Napierala D.; Krakow D.; Beighton P.; Superti-Furga A.; De Paepe A.; Lee B.;
J. Bone Miner. Res. 26:666-672(2011)
Cited for: VARIANT BRKS1 GLN-115; INVOLVEMENT IN OI11;
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;
Disclaimer:
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.