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UniProtKB/Swiss-Prot P25189: Variant p.Thr124Lys

Myelin protein P0
Gene: MPZ
Chromosomal location: 1q22
Variant information

Variant position:  124
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Threonine (T) to Lysine (K) at position 124 (T124K, p.Thr124Lys).
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 polar (T) to large size and basic (K)
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

Involvement in disease:  Neuropathy, congenital hypomyelinating or amyelinating (CHN) [MIM:605253]: A severe degenerating neuropathy that results from a congenital impairment in myelin formation. It is clinically characterized by early onset of hypotonia, areflexia, distal muscle weakness, and very slow nerve conduction velocities (as low as 3m/s). Some patients manifest nearly complete absence of spontaneous limb movements, respiratory distress at birth, and complete absence of myelin shown by electron microscopy of peripheral nerves. Inheritance can be autosomal dominant or recessive. {ECO:0000269|PubMed:15184631}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In CHN.
Any additional useful information about the variant.

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



Sequence information

Variant position:  124
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:   DPRWKDGSIVIHNLDYSDNG  T FTCDVKNPPDIVGKTSQVTL
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                         DPRWKDGSIVIHNLDYSDNGTFTCDVKNPPDIVGKTSQVTL

Mouse                         DPRWKDGSIVIHNLDYSDNGTFTCDVKNPPDIVGKTSQVTL

Rat                           DPSWKDGSIVIHNLDYSDNGTFTCDVKNPPDIVGKTSQVTL

Bovine                        DPHRKDGSIVIHNLDYGDNGTFTCDVKNPPDIVGKTSQVTL

Horse                         DPQWKDGSIVIHNLDYSDNGTFTCDVKNPPDIVGKTSQVTL

Chicken                       NPRRKDGSIVIHNLDYTDNGTFTCDVKNPPDIVGKSSQVTL

Xenopus laevis                SPKWKDASIVVHNLELTDNGTFTCDVKNPPDVVGKSSYVHL

Xenopus tropicalis            SPKWKDASIVLHNLELIDNGTFTCDVKNPPDVVGKSSYVHL

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 123 – 131


Literature citations

A novel MPZ gene mutation in congenital neuropathy with hypomyelination.
Kochanski A.; Drac H.; Kabzinska D.; Ryniewicz B.; Rowinska-Marcinska K.; Nowakowski A.; Hausmanowa-Petrusewicz I.;
Neurology 62:2122-2123(2004)
Cited for: VARIANT CHN LYS-124;

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.