UniProtKB/SwissProt variant VAR

Peptidyl-prolyl cis-trans isomerase FKBP10
Gene: FKBP10
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Variant information Variant position:

115
Type of variant:

LP/P [Disclaimer]
Residue change:

From Arginine (R) to Glutamine (Q) at position 115 (R115Q, p.Arg115Gln).
Physico-chemical properties:

Change from large size and basic (R) to medium size and polar (Q)
BLOSUM score:

1
Variant description:

In BRKS1.
Other resources:

Variant rs387906960 [ dbSNP | Ensembl ]

Sequence information Variant position:

115
Protein sequence length:

582
Location on the sequence:

VGRLITGMDRGLMGMCVNER R RLIVPPHLGYGSIGLAGLIP
Residue conservation:

Human                         VGRLITGMDRGLMGMCVNERRRLIVPPHLGYGSIGLAGLIP

Mouse                         VGRLITGMDRGLMGMCVNERRRLIVPPHLGYGSIGVAGLIP

Bovine                        VGRLITGMDRGLMGMCVNERRRLIVPPHLGYGSIGVAGLIP

Sequence annotation in neighborhood:

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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q96AY3: Variant p.Arg115Gln