UniProtKB/SwissProt variant VAR

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

Variant information Variant position:

214
Type of variant:

LP/P [Disclaimer]
Residue change:

From Alanine (A) to Valine (V) at position 214 (A214V, p.Ala214Val).
Physico-chemical properties:

Change from small size and hydrophobic (A) to medium size and hydrophobic (V)
BLOSUM score:

0
Variant description:

In WENHY.
Other resources:

Variant rs121908672 [ dbSNP | Ensembl ]

Sequence information Variant position:

214
Protein sequence length:

1615
Location on the sequence:

IYWPNGLTIDLEEQKLYWAD A KLSFIHRANLDGSFRQKVVE
Residue conservation:

Human                         IYWPNGLTIDLEEQKLYWADAKLSFIHRANLDGSFRQKVVE

Mouse                         IYWPNGLTIDLEEQKLYWADAKLSFIHRANLDGSFRQKVVE

Sequence annotation in neighborhood:

Type	Positions	Description
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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O75197: Variant p.Ala214Val