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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P60201: Variant p.Leu46Pro

Myelin proteolipid protein
Gene: PLP1
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Variant information Variant position: help 46 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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: help From Leucine (L) to Proline (P) at position 46 (L46P, p.Leu46Pro). 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: help 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: help -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: help In HLD1. Any additional useful information about the variant.


Sequence information Variant position: help 46 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 277 The length of the canonical sequence.
Location on the sequence: help FFGVALFCGCGHEALTGTEK L IETYFSKNYQDYEYLINVIH 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.
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 2 – 277 Myelin proteolipid protein
Topological domain 37 – 63 Extracellular



Literature citations
Different mutations in the same codon of the proteolipid protein gene, PLP, may help in correlating genotype with phenotype in Pelizaeus-Merzbacher disease/X-linked spastic paraplegia (PMD/SPG2).
Hodes M.E.; Zimmerman A.W.; Aydanian A.; Naidu S.; Miller N.R.; Garcia Oller J.L.; Barker B.; Aleck K.A.; Hurley T.D.; Dlouhy S.R.;
Am. J. Med. Genet. 82:132-139(1999)
Cited for: VARIANT HLD1 PRO-46; VARIANTS GLY-166 AND ILE-224; Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease.
Huebner C.A.; Orth U.; Senning A.; Steglich C.; Kohlschuetter A.; Korinthenberg R.; Gal A.;
Hum. Mutat. 25:321-322(2005)
Cited for: VARIANTS HLD1 TYR-33; ARG-35; THR-39; PRO-46; CYS-50; PRO-76; TYR-148; GLU-162; PRO-170; SER-173; PRO-225; PRO-239 AND ALA-246;
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.