UniProtKB/SwissProt variant VAR

Low-density lipoprotein receptor-related protein 5
Gene: LRP5
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Variant information Variant position:

550
Type of variant:

LP/P [Disclaimer]
Residue change:

From Glycine (G) to Arginine (R) at position 550 (G550R, p.Gly550Arg).
Physico-chemical properties:

Change from glycine (G) to large size and basic (R)
BLOSUM score:

-2
Variant description:

In EVR4; autosomal recessive.
Other resources:

Variant rs80358311 [ dbSNP | Ensembl ]

Sequence information Variant position:

550
Protein sequence length:

1615
Location on the sequence:

INVDGTKRRTLLEDKLPHIF G FTLLGDFIYWTDWQRRSIER
Residue conservation:

Human                         INVDGTKRRTLLEDKLPHIFGFTLLGDFIYWTDWQRRSIER

Mouse                         INIDGTKRKTLLEDKLPHIFGFTLLGDFIYWTDWQRRSIER

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	32 – 1615	Low-density lipoprotein receptor-related protein 5
Topological domain	32 – 1384	Extracellular
Repeat	515 – 557	LDL-receptor class B 9
Region	341 – 602	Beta-propeller 2

Literature citations
Reduced bone mineral density and hyaloid vasculature remnants in a consanguineous recessive FEVR family with a mutation in LRP5.
Downey L.M.; Bottomley H.M.; Sheridan E.; Ahmed M.; Gilmour D.F.; Inglehearn C.F.; Reddy A.; Agrawal A.; Bradbury J.; Toomes C.;
Br. J. Ophthalmol. 90:1163-1167(2006)
Cited for: VARIANT EVR4 ARG-550;

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.Gly550Arg