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UniProtKB/Swiss-Prot P25189: Variant p.Ser44Phe

Myelin protein P0
Gene: MPZ
Variant information

Variant position:  44
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 Serine (S) to Phenylalanine (F) at position 44 (S44F, p.Ser44Phe).
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 small size and polar (S) to large size and aromatic (F)
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 CMT2I and CMT1B.
Any additional useful information about the variant.

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



Sequence information

Variant position:  44
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:   LSPAQAIVVYTDREVHGAVG  S RVTLHCSFWSSEWVSDDISF
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                         LSPAQAIVVYTDREVHGAVGSRVTLHCSFWSSEWVSDDISF

Mouse                         LSPALAIVVYTDREIYGAVGSQVTLHCSFWSSEWVSDDISF

Rat                           LSPTLAIVVYTDREVYGAVGSQVTLHCSFWSSEWVSDDISF

Bovine                        LSPVQAIVVYTDKEVHGAVGSQVTLYCSFWSSEWVSDDLSF

Horse                         LSPAQAIVVYTDKEVYGAVGSRVTLHCSFWSSEWVSDDISF

Chicken                       PSPTLAIHVYTPREVYGTVGSHVTLSCSFWSSEWISEDISY

Xenopus laevis                LTPTLAIEVYTDREVYGTAGSRVTLSCSFWSSEWISDDISV

Xenopus tropicalis            LPPTLAIEVYTDREVYGTVGSRVTLSCSFWSSEWISDDVSV

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


Literature citations

Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene.
Marrosu M.G.; Vaccargiu S.; Marrosu G.; Vannelli A.; Cianchetti C.; Muntoni F.;
Neurology 50:1397-1401(1998)
Cited for: VARIANT CMT2I PHE-44;

Phenotypic clustering in MPZ mutations.
Shy M.E.; Jani A.; Krajewski K.; Grandis M.; Lewis R.A.; Li J.; Shy R.R.; Balsamo J.; Lilien J.; Garbern J.Y.; Kamholz J.;
Brain 127:371-384(2004)
Cited for: VARIANTS CMT1B PRO-39; PHE-44; CYS-50 DEL; HIS-98; CYS-123; ARG-130; THR-140 AND SER-227;

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.