UniProtKB/Swiss-Prot P49902: Variant p.Leu460Pro

Cytosolic purine 5'-nucleotidase
Gene: NT5C2
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Variant information Variant position:

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

US 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 460 (L460P, p.Leu460Pro). 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
Variant description:

In SPG45; uncertain significance. Any additional useful information about the variant.

Sequence information Variant position:

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

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

LFRSGSRQTLFASQVMRYAD L YAASFINLLYYPFSYLFRAA 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                         LFRSGSRQTLFASQVMRYADLYAASFINLLYYPFSYLFRAA

Mouse                         LFRSGSRQTLFASQVMRYADLYAASFINLLYYPFSYLFRAA

Rat                           LFRSGSRQTLFASQVMRYADLYAASFINLLYYPFSYLFRAA

Bovine                        LFRSGSRQTLFASQVMRYADLYAASFINLLYYPFSYLFRAA

Chicken                       LFRSGSRQTLFASQVMRYADLYAASFINLLYYPFSYLFRAA

Xenopus laevis                LFRSGSRQTLFASQVMRYADLYAASFINLLYYPFSYLFRAA

Xenopus tropicalis            LFRSGSRQTLFASQVMRYADLYAASFINLLYYPFSYLFRAA

Slime mold                    LFKNGSKSTFFSMQVQRYADLYTSDYLNLLNYPLFYHFCAN

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	1 – 561	Cytosolic purine 5'-nucleotidase
Binding site	453 – 453
Binding site	453 – 453
Binding site	453 – 453
Binding site	453 – 453
Binding site	456 – 456
Binding site	456 – 456
Binding site	457 – 457
Binding site	457 – 457
Beta strand	459 – 463

Literature citations
Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45.
Straussberg R.; Onoufriadis A.; Konen O.; Zouabi Y.; Cohen L.; Lee J.Y.W.; Hsu C.K.; Simpson M.A.; McGrath J.A.;
Am. J. Med. Genet. A 173:3109-3113(2017)
Cited for: VARIANT SPG45 PRO-460;

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.