UniProtKB/Swiss-Prot P30988: Variant p.Leu447Pro

Calcitonin receptor
Gene: CALCR
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Variant information Variant position:

447 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Leucine (L) to Proline (P) at position 447 (L447P, p.Leu447Pro). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:

Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-3 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page
Polymorphism:

Genetic variations in CALCR may be correlated with bone mineral density (BMD). Low BMD is a risk factor for osteoporotic fracture. Osteoporosis is characterized by reduced bone mineral density, disruption of bone microarchitecture, and the alteration of the amount and variety of non-collagenous proteins in bone. Osteoporotic bones are more at risk of fracture. Additional information on the polymorphism described.
Variant description:

Probable protective factor against osteoporosis. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1801197 [ dbSNP | Ensembl ]

Sequence information Variant position:

447 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

474 The length of the canonical sequence.
Location on the sequence:

RAAAAAAEAGDIPIYICHQE L RNEPANNQGEESAEIIPLNI The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation:

The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         RAAAAAAEAGDIPIYICHQELRNEPANN---QGEESAEIIPLNI

Mouse                         PRAVAFAEPDGLPIYICHQEPRNPPISNN--EGEESTEMIP

Rat                           PRAVAFAEPGGLPIYICHQEPRNPPVSNN--EGEEGTEMIP

Pig                           AAAAALAETVEIPVYICHQEPREEPAGEEPVVEVEGVEVIA

Rabbit                        SRTAASAEEGGIPVYIYHQEPRNDPAHS---LGEEGAEIIP

Sequence annotation in neighborhood:

The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:

Type: the type of sequence feature.
Positions: endpoints of the sequence feature.
Description: contains additional information about the feature.

Type	Positions	Description
Chain	25 – 474	Calcitonin receptor
Topological domain	395 – 474	Cytoplasmic
Alternative sequence	275 – 474	Missing. In isoform 5 and isoform 6.

Literature citations
Cloning, characterization, and expression of a human calcitonin receptor from an ovarian carcinoma cell line.
Gorn A.H.; Lin H.Y.; Yamin M.; Auron P.E.; Flannery M.R.; Tapp D.R.; Manning C.A.; Lodish H.F.; Krane S.M.; Goldring S.R.;
J. Clin. Invest. 90:1726-1735(1992)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2); VARIANT PRO-447; Molecular cloning and functional expression of a third isoform of the human calcitonin receptor and partial characterization of the calcitonin receptor gene.
Albrandt K.; Brady E.M.G.; Moore C.X.; Mull E.; Sierzega M.E.; Beaumont K.;
Endocrinology 136:5377-5384(1995)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 3); ALTERNATIVE SPLICING; VARIANT PRO-447; A novel calcitonin receptor gene in human osteoclasts from normal bone marrow.
Nishikawa T.; Ishikawa H.; Yamamoto S.; Koshihara Y.;
FEBS Lett. 458:409-414(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT PRO-447; Molecular characterization of two novel isoforms of the human calcitonin receptor.
Beaudreuil J.; Balasubramanian S.; Chenais J.; Taboulet J.; Frenkian M.; Orcel P.; Jullienne A.; Horne W.; de Vernejoul M.C.; Cressent M.;
Gene 343:143-151(2004)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 5 AND 6); VARIANT PRO-447; Allelic variants of human calcitonin receptor: distribution and association with bone mass in postmenopausal Italian women.
Masi L.; Becherini L.; Gennari L.; Colli E.; Mansani R.; Falchetti A.; Cepollaro C.; Gonnelli S.; Tanini A.; Brandi M.L.;
Biochem. Biophys. Res. Commun. 245:622-626(1998)
Cited for: CHARACTERIZATION OF VARIANT PRO-447; Calcitonin receptor polymorphism is associated with a decreased fracture risk in post-menopausal women.
Taboulet J.; Frenkian M.; Frendo J.L.; Feingold N.; Jullienne A.; de Vernejoul M.-C.;
Hum. Mol. Genet. 7:2129-2133(1998)
Cited for: CHARACTERIZATION OF VARIANT PRO-447;

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.