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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O75197: Variant p.Ala214Val

Low-density lipoprotein receptor-related protein 5
Gene: LRP5
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Variant information Variant position: help 214
Type of variant: help LP/P [Disclaimer]
Residue change: help From Alanine (A) to Valine (V) at position 214 (A214V, p.Ala214Val).
Physico-chemical properties: help Change from small size and hydrophobic (A) to medium size and hydrophobic (V)
BLOSUM score: help 0
Variant description: help In WENHY.
Other resources: help


Sequence information Variant position: help 214
Protein sequence length: help 1615
Location on the sequence: help IYWPNGLTIDLEEQKLYWAD A KLSFIHRANLDGSFRQKVVE
Residue conservation: help
Human                         IYWPNGLTIDLEEQKLYWADAKLSFIHRANLDGSFRQKVVE

Mouse                         IYWPNGLTIDLEEQKLYWADAKLSFIHRANLDGSFRQKVVE

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 32 – 1615 Low-density lipoprotein receptor-related protein 5
Topological domain 32 – 1384 Extracellular
Repeat 207 – 247 LDL-receptor class B 4
Region 32 – 288 Beta-propeller 1



Literature citations
Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density.
Van Wesenbeeck L.; Cleiren E.; Gram J.; Beals R.K.; Benichou O.; Scopelliti D.; Key L.; Renton T.; Bartels C.; Gong Y.; Warman M.L.; de Vernejoul M.-C.; Bollerslev J.; Van Hul W.;
Am. J. Hum. Genet. 72:763-771(2003)
Cited for: VARIANTS OPTA1 TYR-111; ARG-171; THR-242 AND ILE-253; VARIANTS WENHY THR-214; VAL-214 AND THR-242; VARIANT VBCH2 THR-242; VARIANTS 18-LEU--LEU-20 DEL; LEU-20 INS; ARG-89; MET-667 AND VAL-1330;
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.