UniProtKB/SwissProt variant VAR

Low-density lipoprotein receptor-related protein 5
Gene: LRP5
Feedback?

Variant information Variant position:

171
Type of variant:

LP/P [Disclaimer]
Residue change:

From Glycine (G) to Valine (V) at position 171 (G171V, p.Gly171Val).
Physico-chemical properties:

Change from glycine (G) to medium size and hydrophobic (V)
BLOSUM score:

-3
Variant description:

In HBM; also in HBM individuals with enlarged mandible and torus palatinus; abolishes interaction with MESD; impairs transport to cell surface; no enhancement of DKK1 binding by MESD resulting in impaired inhibition of Wnt signaling by DKK1.
Other resources:

Variant rs121908668 [ dbSNP | Ensembl ]

Sequence information Variant position:

171
Protein sequence length:

1615
Location on the sequence:

DQPRAIALDPAHGYMYWTDW G ETPRIERAGMDGSTRKIIVD
Residue conservation:

Human                         DQPRAIALDPAHGYMYWTDWGETPRIERAGMDGSTRKIIVD

Mouse                         DQPRAIALDPAHGYMYWTDWGEAPRIERAGMDGSTRKIIVD

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	32 – 1615	Low-density lipoprotein receptor-related protein 5
Topological domain	32 – 1384	Extracellular
Repeat	163 – 206	LDL-receptor class B 3
Region	32 – 288	Beta-propeller 1

Literature citations
A cell-based Dkk1 binding assay reveals roles for extracellular domains of LRP5 in Dkk1 interaction and highlights differences between wild-type and the high bone mass mutant LRP5(G171V).
Murrills R.J.; Matteo J.J.; Bhat B.M.; Coleburn V.E.; Allen K.M.; Chen W.; Damagnez V.; Bhat R.A.; Bex F.J.; Bodine P.V.;
J. Cell. Biochem. 108:1066-1075(2009)
Cited for: INTERACTION WITH DKK1 AND MESD; CHARACTERIZATION OF VARIANT VAL-171; The LRP5 high-bone-mass G171V mutation disrupts LRP5 interaction with Mesd.
Zhang Y.; Wang Y.; Li X.; Zhang J.; Mao J.; Li Z.; Zheng J.; Li L.; Harris S.; Wu D.;
Mol. Cell. Biol. 24:4677-4684(2004)
Cited for: INTERACTION WITH MESD; CHARACTERIZATION OF VARIANT HBM VAL-171; A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait.
Little R.D.; Carulli J.P.; Del Mastro R.G.; Dupuis J.; Osborne M.; Folz C.; Manning S.P.; Swain P.M.; Zhao S.-C.; Eustace B.; Lappe M.M.; Spitzer L.; Zweier S.; Braunschweiger K.; Benchekroun Y.; Hu X.; Adair R.; Chee L.; FitzGerald M.G.; Tulig C.; Caruso A.; Tzellas N.; Bawa A.; Franklin B.; McGuire S.; Nogues X.; Gong G.; Allen K.M.; Anisowicz A.; Morales A.J.; Lomedico P.T.; Recker S.M.; Van Eerdewegh P.; Recker R.R.; Johnson M.L.;
Am. J. Hum. Genet. 70:11-19(2002)
Cited for: VARIANT HBM VAL-171; POLYMORPHISM; High bone density due to a mutation in LDL-receptor-related protein 5.
Boyden L.M.; Mao J.; Belsky J.; Mitzner L.; Farhi A.; Mitnick M.A.; Wu D.; Insogna K.; Lifton R.P.;
N. Engl. J. Med. 346:1513-1521(2002)
Cited for: VARIANT HBM VAL-171; CHARACTERIZATION OF VARIANT HBM VAL-171;

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 O75197: Variant p.Gly171Val