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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O75197: Variant p.Gly550Arg

Low-density lipoprotein receptor-related protein 5
Gene: LRP5
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Variant information Variant position: help 550
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glycine (G) to Arginine (R) at position 550 (G550R, p.Gly550Arg).
Physico-chemical properties: help Change from glycine (G) to large size and basic (R)
BLOSUM score: help -2
Variant description: help In EVR4; autosomal recessive.
Other resources: help


Sequence information Variant position: help 550
Protein sequence length: help 1615
Location on the sequence: help INVDGTKRRTLLEDKLPHIF G FTLLGDFIYWTDWQRRSIER
Residue conservation: help
Human                         INVDGTKRRTLLEDKLPHIFGFTLLGDFIYWTDWQRRSIER

Mouse                         INIDGTKRKTLLEDKLPHIFGFTLLGDFIYWTDWQRRSIER

Sequence annotation in neighborhood: help
TypePositionsDescription
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.