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UniProtKB/Swiss-Prot P25189: Variant p.Val113Phe

Myelin protein P0
Gene: MPZ
Variant information

Variant position:  113
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 Valine (V) to Phenylalanine (F) at position 113 (V113F, p.Val113Phe).
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 medium size and hydrophobic (V) to large size and aromatic (F)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -1
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 CMT; unclassified; associated with Y-81.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  113
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  248
The length of the canonical sequence.

Location on the sequence:   GTFKERIQWVGDPRWKDGSI  V IHNLDYSDNGTFTCDVKNPP
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                         GTFKERIQWVGDPRWKDGSIVIHNLDYSDNGTFTCDVKNPP

Mouse                         GAFKERIQWVGDPRWKDGSIVIHNLDYSDNGTFTCDVKNPP

Rat                           GTFKERIQWVGDPSWKDGSIVIHNLDYSDNGTFTCDVKNPP

Bovine                        GTFKERIQWVGDPHRKDGSIVIHNLDYGDNGTFTCDVKNPP

Horse                         GTFKERIQWVGDPQWKDGSIVIHNLDYSDNGTFTCDVKNPP

Chicken                       GSFKERMEWVGNPRRKDGSIVIHNLDYTDNGTFTCDVKNPP

Xenopus laevis                GIFKDRIEWVGSPKWKDASIVVHNLELTDNGTFTCDVKNPP

Xenopus tropicalis            GVFKDRIEWVGSPKWKDASIVLHNLELIDNGTFTCDVKNPP

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.

TypePositionsDescription
Chain 30 – 248 Myelin protein P0
Topological domain 30 – 153 Extracellular
Domain 30 – 143 Ig-like V-type
Glycosylation 122 – 122 N-linked (GlcNAc...) (complex) asparagine
Disulfide bond 50 – 127
Beta strand 112 – 114


Literature citations

Two amino-acid substitutions in the myelin protein zero gene of a case of Charcot-Marie-Tooth disease associated with light-near dissociation.
Bienfait H.M.E.; Baas F.; Gabreeels-Festen A.A.W.M.; Koelman J.H.T.M.; Langerhorst C.T.; de Visser M.;
Neuromuscul. Disord. 12:281-285(2002)
Cited for: VARIANTS CMT TYR-81 AND PHE-113;

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.