UniProtKB/Swiss-Prot Q9UKY0: Variant p.Pro56Leu

Prion-like protein doppel
Gene: PRND
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Variant information Variant position:

56 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 Proline (P) to Leucine (L) at position 56 (P56L, p.Pro56Leu). 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
Other resources:

Links to websites of interest for the variant.

Variant rs35453518 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

NRKALPSTAQITEAQVAENR P GAFIKQGRKLDIDFGAEGNR 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                         NRKALPST-AQITEAQVAENRPGAFIKQGRKLDIDFGAEGNR

Mouse                         NRKVLPSSGGQITEARVAENRPGAFIKQGRKLDIDFGAEGN

Bovine                        NRKVLPST-SQVTEARTAEIRPGAFIKQGRKLDIDFGVEGN

Sheep                         NRKVLPST-SQVTEAHTAEIRPGAFIKQGRKLDINFGVEGN

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	26 – 152	Prion-like protein doppel
Region	51 – 152	Globular
Glycosylation	43 – 43	O-linked (GalNAc...) threonine

Literature citations
First report of polymorphisms in the prion-like protein gene (PRND): implications for human prion diseases.
Peoc'h K.; Guerin C.; Brandel J.-P.; Launay J.-M.; Laplanche J.-L.;
Neurosci. Lett. 286:144-148(2000)
Cited for: VARIANTS PRO-26; LEU-56 AND MET-174;

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.