UniProtKB/Swiss-Prot P07339: Variant p.Gly282Arg

Cathepsin D
Gene: CTSD
Feedback?

Variant information Variant position:

282 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 Glycine (G) to Arginine (R) at position 282 (G282R, p.Gly282Arg). 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:

Change from glycine (G) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 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:

The Val-58 allele is significantly overrepresented in demented patients (11.8%) compared with non-demented controls (4.9%). Carriers of the Val-58 allele have a 3.1-fold increased risk for developing AD than non-carriers. Additional information on the polymorphism described.
Other resources:

Links to websites of interest for the variant.

Variant rs147278302 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

LNVTRKAYWQVHLDQVEVAS G LTLCKEGCEAIVDTGTSLMV 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                         LNVTRKAYWQVHLDQVEV-ASGLTLCKEGCEAIVDTGTSLMV

                              LNVTRKAYWQVHMEQVDV-GSSLTLCKGGCEAIVDTGTSLI

Mouse                         LNVTRKAYWQVHMDQLEV-GNELTLCKGGCEAIVDTGTSLL

Rat                           LNVTRKAYWQVHMDQLEV-GSELTLCKGGCEAIVDTGTSLL

Pig                           HNVTRKAYWQIHMNQVAV-GSSLTLCKGGCEAIVDTGTSLI

Bovine                        HNVTRQAYWQIHMDQLDV-GSSLTVCKGGCEAIVDTGTSLI

Chicken                       VNVTRKAYWQVHMDSVDV-ANGLTLCKGGCEAIVDTGTSLI

Slime mold                    VPLTNETYWEFVMDDFAIDGQSAGFCGTTCHAICDSGTSLI

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	65 – 412	Cathepsin D
Chain	169 – 412	Cathepsin D heavy chain
Domain	79 – 407	Peptidase A1
Active site	295 – 295
Glycosylation	263 – 263	N-linked (GlcNAc...) asparagine
Turn	280 – 282

Literature citations
Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis.
Siintola E.; Partanen S.; Stromme P.; Haapanen A.; Haltia M.; Maehlen J.; Lehesjoki A.E.; Tyynela J.;
Brain 129:1438-1445(2006)
Cited for: INVOLVEMENT IN CLN10; VARIANT ARG-282;

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.