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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P25189: Variant p.Asp224Tyr

Myelin protein P0
Gene: MPZ
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Variant information Variant position: help 224 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 Aspartate (D) to Tyrosine (Y) at position 224 (D224Y, p.Asp224Tyr). 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 Change from medium size and acidic (D) to large size and aromatic (Y) 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 CMT1B; also in two asymptomatic individuals from the same family. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 224 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 248 The length of the canonical sequence.
Location on the sequence: help KPGKDASKRGRQTPVLYAML D HSRSTKAVSEKKAKGLGESR 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         KPGKDASKRGRQTPVLYAMLDHSRSTKAVSEKKAKG-LGESR

Mouse                         KSSKDSSKRGRQTPVLYAMLDHSRSTKAASEKKSKG-LGES

Rat                           KSSKDSSKRGRQTPVLYAMLDHSRSTKAASEKKSKG-LGES

Bovine                        KTAKDASKRGRQTPVLYAMLDHSRSTKAASEKKTKG-LGES

Horse                         KPGKDTSKRGRQTPVLYAMLDHSRSTKAASEKKAKG-LGES

Chicken                       RSAKDASKRSRQPPVLYAMLDHSRSAKAAAEKKSKGAPGEA

Xenopus laevis                KAKDSSKRSSRQTPILYAMLDQTRGK--SSEKKAKGGIGDS

Xenopus tropicalis            KAKDSSKRSSRQTPILYAMLDQTRGK--ASEKKGKGGIGDS
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 30 – 248 Myelin protein P0
Topological domain 180 – 248 Cytoplasmic
Region 224 – 248 Disordered
Modified residue 210 – 210 Phosphoserine; by PKC
Modified residue 226 – 226 Phosphoserine
Modified residue 228 – 228 Phosphoserine
Modified residue 233 – 233 Phosphoserine; by PKC
Modified residue 243 – 243 Phosphoserine; by PKC



Literature citations
Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B.
Fabrizi G.M.; Pellegrini M.; Angiari C.; Cavallaro T.; Morini A.; Taioli F.; Cabrini I.; Orrico D.; Rizzuto N.;
Neuromuscul. Disord. 16:183-187(2006)
Cited for: VARIANT CMT1B TYR-224;
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.