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UniProtKB/Swiss-Prot P25189: Variant p.Tyr82Cys

Myelin protein P0
Gene: MPZ
Variant information

Variant position:  82
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Tyrosine (Y) to Cysteine (C) at position 82 (Y82C, p.Tyr82Cys).
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 large size and aromatic (Y) to medium size and polar (C)
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

Variant description:  In CMT1B and DSS.
Any additional useful information about the variant.

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



Sequence information

Variant position:  82
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:   ISFTWRYQPEGGRDAISIFH  Y AKGQPYIDEVGTFKERIQWV
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                         ISFTWRYQPEGGRDAISIFHYAKGQPYIDEVGTFKERIQWV

Mouse                         ISFTWRYQPEGGRDAISIFHYAKGQPYIDEVGAFKERIQWV

Rat                           ISFTWRYQPEGGRDAISIFHYAKGQPYIDEVGTFKERIQWV

Bovine                        LSFTWRYQPEGGRDAISIFHYAKGQPYIDEVGTFKERIQWV

Horse                         ISFTWRYQPEGGRDAISIFHYAKGQPYIDEVGTFKERIQWV

Chicken                       ISYTWHFQAEGSRDSISIFHYGKGQPYIDDVGSFKERMEWV

Xenopus laevis                ISVTWHYQPDHSREMYSIVHFAKGLSSID-AGIFKDRIEWV

Xenopus tropicalis            VSVTWHYQPDHSREMYSIFHYAKGQPSID-AGVFKDRIEWV

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
Disulfide bond 50 – 127
Beta strand 77 – 83


Literature citations

New mutation of the myelin P0 gene in a pedigree of Charcot-Marie-Tooth neuropathy 1.
Himoro M.; Yoshikawa H.; Matsui T.; Mitsui Y.; Takahashi M.; Kaido M.; Nishimura T.; Sawaishi Y.; Takada G.; Hayasaka K.;
Biochem. Mol. Biol. Int. 31:169-173(1993)
Cited for: VARIANT CMT1B CYS-82;

Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies.
Silander K.; Meretoja P.; Juvonen V.; Ignatius J.; Pihko H.; Saarinen A.; Wallden T.; Herrgaard E.; Aula P.; Savontaus M.-L.;
Hum. Mutat. 12:59-68(1998)
Cited for: VARIANT CMT1B LEU-78; VARIANT DSS CYS-82;

Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.
Boerkoel C.F.; Takashima H.; Garcia C.A.; Olney R.K.; Johnson J.; Berry K.; Russo P.; Kennedy S.; Teebi A.S.; Scavina M.; Williams L.L.; Mancias P.; Butler I.J.; Krajewski K.; Shy M.; Lupski J.R.;
Ann. Neurol. 51:190-201(2002)
Cited for: VARIANTS CMT1B LEU-78 AND CYS-82; VARIANTS CMT2I ASN-89; MET-92 AND MET-162; VARIANTS DSS CYS-123 AND GLU-136;

Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations.
Numakura C.; Lin C.; Ikegami T.; Guldberg P.; Hayasaka K.;
Hum. Mutat. 20:392-398(2002)
Cited for: VARIANTS CMT1B SER-63 DEL; ILE-65; CYS-68; CYS-82; MET-124; ARG-163 AND ARG-170; VARIANTS CMT2 VAL-75 AND ILE-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.