Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 220 (22 Apr 2020)
Sequence version 1 (01 May 1992)
Previous versions | rss
Help videoAdd a publicationFeedback
Protein

Myelin protein P0

Gene

MPZ

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Is an adhesion molecule necessary for normal myelination in the peripheral nervous system. It mediates adhesion between adjacent myelin wraps and ultimately drives myelin compaction.2 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

SIGNOR Signaling Network Open Resource

More...
SIGNORi
P25189

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Myelin protein P0
Alternative name(s):
Myelin peripheral protein
Short name:
MPP
Myelin protein zero
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:MPZ
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:7225 MPZ

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
159440 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P25189

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini30 – 153ExtracellularSequence analysisAdd BLAST124
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei154 – 179HelicalSequence analysisAdd BLAST26
Topological domaini180 – 248CytoplasmicSequence analysisAdd BLAST69

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Cell membrane, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Charcot-Marie-Tooth disease 1B (CMT1B)40 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_00450030I → M in CMT1B. 1 PublicationCorresponds to variant dbSNP:rs770546306EnsemblClinVar.1
Natural variantiVAR_00450132V → F in CMT1B; severe. 1 Publication1
Natural variantiVAR_00450234T → I in CMT1B. 1 Publication1
Natural variantiVAR_01597135D → Y in CMT1B and CMTDID. 2 PublicationsCorresponds to variant dbSNP:rs121913596EnsemblClinVar.1
Natural variantiVAR_05439339H → P in CMT1B; slightly reduces intercellular adhesion; does not affect targeting to the cell membrane. 2 PublicationsCorresponds to variant dbSNP:rs371856018EnsemblClinVar.1
Natural variantiVAR_00450344S → F in CMT2I and CMT1B. 2 PublicationsCorresponds to variant dbSNP:rs121913598EnsemblClinVar.1
Natural variantiVAR_05439450Missing in CMT1B. 1 Publication1
Natural variantiVAR_05439551 – 57Missing in CMT1B; affects targeting to the cell membrane; reduces intercellular adhesion. 1 Publication7
Natural variantiVAR_02997151S → F in CMT1B. 1 PublicationCorresponds to variant dbSNP:rs1553259790EnsemblClinVar.1
Natural variantiVAR_00450454S → C in CMT1B; severe. 1
Natural variantiVAR_00450554S → P in CMT1B. 1 Publication1
Natural variantiVAR_00450658V → F in CMT1B; moderate. 1 Publication1
Natural variantiVAR_01597262I → F in CMT1B. 2 PublicationsCorresponds to variant dbSNP:rs121913602EnsemblClinVar.1
Natural variantiVAR_00450963S → F in CMT1B. 2 PublicationsCorresponds to variant dbSNP:rs121913585EnsemblClinVar.1
Natural variantiVAR_00450763Missing in CMT1B. 3 Publications1
Natural variantiVAR_00451064Missing in CMT1B and DSS. 1 Publication1
Natural variantiVAR_03188665T → A in CMT1B. 1 PublicationCorresponds to variant dbSNP:rs1553259760EnsemblClinVar.1
Natural variantiVAR_02997465T → I in CMT1B. 1 Publication1
Natural variantiVAR_00451168Y → C in CMT1B; severe/mild. 4 Publications1
Natural variantiVAR_00451278S → L in CMT1B; severe. 8 PublicationsCorresponds to variant dbSNP:rs121913601EnsemblClinVar.1
Natural variantiVAR_03188778S → W in CMT1B. 1 PublicationCorresponds to variant dbSNP:rs121913601EnsemblClinVar.1
Natural variantiVAR_00451381H → R in CMT1B and CMT2I; severe; reduces intercellular adhesion; does not affect targeting to the cell membrane. 3 PublicationsCorresponds to variant dbSNP:rs121913594EnsemblClinVar.1
Natural variantiVAR_00451482Y → C in CMT1B and DSS. 4 PublicationsCorresponds to variant dbSNP:rs1553259707EnsemblClinVar.1
Natural variantiVAR_00451590D → E in CMT1B. 1 PublicationCorresponds to variant dbSNP:rs121913584EnsemblClinVar.1
Natural variantiVAR_00451693G → E in CMT1B. 2 PublicationsCorresponds to variant dbSNP:rs1060503418EnsemblClinVar.1
Natural variantiVAR_00451796K → E in CMT1B. 2 PublicationsCorresponds to variant dbSNP:rs121913583EnsemblClinVar.1
Natural variantiVAR_00451898R → C in CMT1B and DSS; severe. 5 PublicationsCorresponds to variant dbSNP:rs121913590EnsemblClinVar.1
Natural variantiVAR_00451998R → H in CMT1B. 6 PublicationsCorresponds to variant dbSNP:rs121913589EnsemblClinVar.1
Natural variantiVAR_00452098R → P in CMT1B. Corresponds to variant dbSNP:rs121913589EnsemblClinVar.1
Natural variantiVAR_00452198R → S in CMT1B. 1 Publication1
Natural variantiVAR_00452299I → T in CMT1B. 1
Natural variantiVAR_004523101W → C in CMT1B. 1 Publication1
Natural variantiVAR_015976103G → E in CMT1B. 1 PublicationCorresponds to variant dbSNP:rs121913600EnsemblClinVar.1
Natural variantiVAR_031889109D → N in CMT1B. 1 PublicationCorresponds to variant dbSNP:rs1060503420EnsemblClinVar.1
Natural variantiVAR_004524112I → T in CMT1B; severe. 1 PublicationCorresponds to variant dbSNP:rs1553259662EnsemblClinVar.1
Natural variantiVAR_004528122N → S in CMT1B; loss of glycosylation site. 1 Publication1
Natural variantiVAR_015977123G → C in DSS and CMT1B. 2 Publications1
Natural variantiVAR_004529124T → M in CMT1B, CMT2I and CMT2J; CMTJ2 patients present Adie pupil; slightly reduces intercellular adhesion; does not affect targeting to the cell membrane; affects glycosylation. 11 PublicationsCorresponds to variant dbSNP:rs121913595EnsemblClinVar.1
Natural variantiVAR_004532128D → E in CMT1B. 1
Natural variantiVAR_004534130K → R in CMT1B, CMT2I and DSS. 4 PublicationsCorresponds to variant dbSNP:rs281865127EnsemblClinVar.1
Natural variantiVAR_004535132P → L in CMT1B; moderate. 1 Publication1
Natural variantiVAR_004536134D → E in CMT1B. 2 Publications1
Natural variantiVAR_029979134D → G in CMT1B. 1 Publication1
Natural variantiVAR_004537134D → N in CMT1B. 1 PublicationCorresponds to variant dbSNP:rs1553259647EnsemblClinVar.1
Natural variantiVAR_004538135I → L in CMT1B and DSS. 1 PublicationCorresponds to variant dbSNP:rs879253858EnsemblClinVar.1
Natural variantiVAR_004539135I → T in CMT1B. 2 PublicationsCorresponds to variant dbSNP:rs121913587EnsemblClinVar.1
Natural variantiVAR_004540137G → S in CMT1B. 1 PublicationCorresponds to variant dbSNP:rs121913588EnsemblClinVar.1
Natural variantiVAR_029980138K → N in CMT1B. 1 Publication1
Natural variantiVAR_029981139T → N in CMT1B. 1 Publication1
Natural variantiVAR_029982140S → T in CMT1B. 2 PublicationsCorresponds to variant dbSNP:rs572010627EnsemblClinVar.1
Natural variantiVAR_004541143T → M in CMT1B. Corresponds to variant dbSNP:rs750724650EnsemblClinVar.1
Natural variantiVAR_029983145Y → S in CMT1B. 1 PublicationCorresponds to variant dbSNP:rs121913603EnsemblClinVar.1
Natural variantiVAR_029984146V → F in CMT1B. 1 Publication1
Natural variantiVAR_004542163G → R in CMT1B. 2 PublicationsCorresponds to variant dbSNP:rs281865128EnsemblClinVar.1
Natural variantiVAR_004543167G → A in CMT1B and DSS; severe. 1 Publication1
Natural variantiVAR_029985170L → R in CMT1B. 1 Publication1
Natural variantiVAR_029986216T → ER in CMT1B; referred to as 'T216ER'. 1
Natural variantiVAR_054397224D → Y in CMT1B; also in two asymptomatic individuals from the same family. 1 PublicationCorresponds to variant dbSNP:rs267607247EnsemblClinVar.1
Natural variantiVAR_054398227R → S in CMT1B. 1 Publication1
Natural variantiVAR_029987236Missing in CMT1B. 1 Publication1
Charcot-Marie-Tooth disease 2I (CMT2I)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00450344S → F in CMT2I and CMT1B. 2 PublicationsCorresponds to variant dbSNP:rs121913598EnsemblClinVar.1
Natural variantiVAR_02997260D → H in CMT2I. 1 PublicationCorresponds to variant dbSNP:rs121913604EnsemblClinVar.1
Natural variantiVAR_02997362I → M in CMT2I. 1 PublicationCorresponds to variant dbSNP:rs121913605EnsemblClinVar.1
Natural variantiVAR_01597375D → V in CMT2J and CMT2I. 3 PublicationsCorresponds to variant dbSNP:rs121913597EnsemblClinVar.1
Natural variantiVAR_00451381H → R in CMT1B and CMT2I; severe; reduces intercellular adhesion; does not affect targeting to the cell membrane. 3 PublicationsCorresponds to variant dbSNP:rs121913594EnsemblClinVar.1
Natural variantiVAR_01597489I → N in CMT2I; patient carrying also Met-92 and Met-162. 1 PublicationCorresponds to variant dbSNP:rs267607244EnsemblClinVar.1
Natural variantiVAR_01597592V → M in CMT2I; patient carrying also Asn-89 and Met-162. 1 PublicationCorresponds to variant dbSNP:rs267607245EnsemblClinVar.1
Natural variantiVAR_021609118D → N in CMT2I. 1 Publication1
Natural variantiVAR_015980162I → M in CMT2I; patient carrying also Asn-89 and Met-92. 1 PublicationCorresponds to variant dbSNP:rs267607246EnsemblClinVar.1
Natural variantiVAR_004544167G → R in CMT2I and DSS. 2 PublicationsCorresponds to variant dbSNP:rs121913586EnsemblClinVar.1
Natural variantiVAR_021610236K → E in CMT2I. 1 Publication1
Charcot-Marie-Tooth disease 2J (CMT2J)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Charcot-Marie-Tooth disease type 2J is characterized by the association of axonal peripheral neuropathy with hearing loss and pupillary abnormalities such as Adie pupil.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01597375D → V in CMT2J and CMT2I. 3 PublicationsCorresponds to variant dbSNP:rs121913597EnsemblClinVar.1
Natural variantiVAR_02997597E → V in CMT2J. 1 PublicationCorresponds to variant dbSNP:rs121913606EnsemblClinVar.1
Natural variantiVAR_004529124T → M in CMT1B, CMT2I and CMT2J; CMTJ2 patients present Adie pupil; slightly reduces intercellular adhesion; does not affect targeting to the cell membrane; affects glycosylation. 11 PublicationsCorresponds to variant dbSNP:rs121913595EnsemblClinVar.1
Adie pupil (ADIEP)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA stationary, benign disorder characterized by tonic, sluggishly reacting pupil and hypoactive or absent tendon reflexes. Adie pupil is a characteristic of Charcot-Marie-Tooth disease type 2J.
Related information in OMIM
Charcot-Marie-Tooth disease, dominant, intermediate type, D (CMTDID)1 Publication
The disease may be caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. The dominant intermediate type D is characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01597135D → Y in CMT1B and CMTDID. 2 PublicationsCorresponds to variant dbSNP:rs121913596EnsemblClinVar.1
Dejerine-Sottas syndrome (DSS)12 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA severe degenerating neuropathy of the demyelinating Charcot-Marie-Tooth disease category, with onset by age 2 years. Characterized by motor and sensory neuropathy with very slow nerve conduction velocities, increased cerebrospinal fluid protein concentrations, hypertrophic nerve changes, delayed age of walking as well as areflexia. There are both autosomal dominant and autosomal recessive forms of Dejerine-Sottas syndrome.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03188442Missing in DSS. 1 Publication1
Natural variantiVAR_00450863S → C in DSS. 1 PublicationCorresponds to variant dbSNP:rs121913585EnsemblClinVar.1
Natural variantiVAR_00451064Missing in CMT1B and DSS. 1 Publication1
Natural variantiVAR_00451482Y → C in CMT1B and DSS. 4 PublicationsCorresponds to variant dbSNP:rs1553259707EnsemblClinVar.1
Natural variantiVAR_00451898R → C in CMT1B and DSS; severe. 5 PublicationsCorresponds to variant dbSNP:rs121913590EnsemblClinVar.1
Natural variantiVAR_029976110G → D in DSS. 1 Publication1
Natural variantiVAR_004525114I → T in DSS; associated on the same allele as His-116 and Asn-128 in one patient. 1 PublicationCorresponds to variant dbSNP:rs267607241EnsemblClinVar.1
Natural variantiVAR_004526116N → H in DSS; associated on the same allele as Thr-114 and Asn-128 in one patient. 1 PublicationCorresponds to variant dbSNP:rs267607242EnsemblClinVar.1
Natural variantiVAR_004527118D → DFY in DSS. 1 Publication1
Natural variantiVAR_015977123G → C in DSS and CMT1B. 2 Publications1
Natural variantiVAR_004530124 – 125Missing in DSS. 2 Publications2
Natural variantiVAR_004531127C → Y in DSS. 1
Natural variantiVAR_004533128D → N in DSS; associated on the same allele as Thr-114 and His-116 in one patient. 1 PublicationCorresponds to variant dbSNP:rs267607243EnsemblClinVar.1
Natural variantiVAR_004534130K → R in CMT1B, CMT2I and DSS. 4 PublicationsCorresponds to variant dbSNP:rs281865127EnsemblClinVar.1
Natural variantiVAR_004538135I → L in CMT1B and DSS. 1 PublicationCorresponds to variant dbSNP:rs879253858EnsemblClinVar.1
Natural variantiVAR_015979136V → E in DSS. 1 Publication1
Natural variantiVAR_004543167G → A in CMT1B and DSS; severe. 1 Publication1
Natural variantiVAR_004544167G → R in CMT2I and DSS. 2 PublicationsCorresponds to variant dbSNP:rs121913586EnsemblClinVar.1
Natural variantiVAR_031892221A → T in DSS. 1 Publication1
Roussy-Levy syndrome (ROULS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAutosomal dominant disorder that resembles Charcot-Marie-Tooth disease type 1 in that it presents with foot deformity, weakness and atrophy of distal limb muscles, especially the peronei, and absent tendon reflexes. The phenotype differs, however, in that it includes static tremor of the upper limbs and gait ataxia.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_015978131N → K in ROULS. 1 PublicationCorresponds to variant dbSNP:rs121913599EnsemblClinVar.1
Neuropathy, congenital hypomyelinating, 2 (CHN2)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of congenital hypomyelinating neuropathy, a neurologic disorder characterized by early-onset hypotonia, areflexia, distal muscle weakness, and very slow nerve conduction velocities (NCV) resulting from improper myelination of axons. In its extreme form, it may present with severe joint contractures or arthrogryposis multiplex congenita and respiratory insufficiency. In less severe cases patients may achieve walking. Patients lack both active myelin breakdown and well-organized onion bulbs on sural nerve biopsies, have absence of inflammation, and show hypomyelination of most or all fibers. CHN2 inheritance is autosomal dominant.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_029978124T → K in CHN2. 1 PublicationCorresponds to variant dbSNP:rs121913595EnsemblClinVar.1
Natural variantiVAR_081765215 – 248Missing in CHN2. 2 PublicationsAdd BLAST34

Keywords - Diseasei

Charcot-Marie-Tooth disease, Deafness, Dejerine-Sottas syndrome, Disease mutation, Neurodegeneration, Neuropathy

Organism-specific databases

DisGeNET

More...
DisGeNETi
4359

MalaCards human disease database

More...
MalaCardsi
MPZ
MIMi103100 phenotype
118200 phenotype
145900 phenotype
180800 phenotype
607677 phenotype
607736 phenotype
607791 phenotype
618184 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000158887

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
99942 Autosomal dominant Charcot-Marie-Tooth disease type 2I
99943 Autosomal dominant Charcot-Marie-Tooth disease type 2J
100046 Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
324585 Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain
101082 Charcot-Marie-Tooth disease type 1B
64748 Dejerine-Sottas syndrome
538574 Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome
3115 Roussy-Levy syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA30930

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
P25189 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
MPZ

Domain mapping of disease mutations (DMDM)

More...
DMDMi
127721

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 29Add BLAST29
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000001930030 – 248Myelin protein P0Add BLAST219

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi50 ↔ 127PROSITE-ProRule annotation1 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi122N-linked (GlcNAc...) (complex) asparagineBy similarity1
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei210Phosphoserine; by PKCBy similarity1
Modified residuei226PhosphoserineBy similarity1
Modified residuei228PhosphoserineBy similarity1
Modified residuei233Phosphoserine; by PKCBy similarity1
Modified residuei243Phosphoserine; by PKCBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

N-glycosylated; contains sulfate-substituted glycan.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
P25189

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
P25189

MaxQB - The MaxQuant DataBase

More...
MaxQBi
P25189

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
P25189

PeptideAtlas

More...
PeptideAtlasi
P25189

PRoteomics IDEntifications database

More...
PRIDEi
P25189

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
54264 [P25189-1]

PTM databases

GlyConnect protein glycosylation platform

More...
GlyConnecti
1526

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P25189

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
P25189

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Found only in peripheral nervous system Schwann cells.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000158887 Expressed in tibial nerve and 125 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
P25189 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P25189 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000158887 Tissue enhanced (brain, retina)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer and homotetramer.

1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
110499, 4 interactors

Protein interaction database and analysis system

More...
IntActi
P25189, 3 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000432943

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
P25189 protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1248
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
P25189

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini30 – 143Ig-like V-typeAdd BLAST114

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the myelin P0 protein family.Curated

Keywords - Domaini

Immunoglobulin domain, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IJG4 Eukaryota
ENOG4111R0Y LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00950000182726

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_090350_3_1_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P25189

KEGG Orthology (KO)

More...
KOi
K06770

Identification of Orthologs from Complete Genome Data

More...
OMAi
WVGDPHW

Database of Orthologous Groups

More...
OrthoDBi
1621899at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P25189

TreeFam database of animal gene trees

More...
TreeFami
TF331728

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.60.40.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR007110 Ig-like_dom
IPR036179 Ig-like_dom_sf
IPR013783 Ig-like_fold
IPR003599 Ig_sub
IPR013106 Ig_V-set
IPR019566 Myelin-PO_C
IPR000920 Myelin_P0-rel
IPR019738 Myelin_P0_CS
IPR029869 P0

The PANTHER Classification System

More...
PANTHERi
PTHR13869 PTHR13869, 1 hit
PTHR13869:SF7 PTHR13869:SF7, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF10570 Myelin-PO_C, 1 hit
PF07686 V-set, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00213 MYELINP0

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00409 IG, 1 hit
SM00406 IGv, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48726 SSF48726, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50835 IG_LIKE, 1 hit
PS00568 MYELIN_P0, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P25189-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAPGAPSSSP SPILAVLLFS SLVLSPAQAI VVYTDREVHG AVGSRVTLHC
60 70 80 90 100
SFWSSEWVSD DISFTWRYQP EGGRDAISIF HYAKGQPYID EVGTFKERIQ
110 120 130 140 150
WVGDPRWKDG SIVIHNLDYS DNGTFTCDVK NPPDIVGKTS QVTLYVFEKV
160 170 180 190 200
PTRYGVVLGA VIGGVLGVVL LLLLLFYVVR YCWLRRQAAL QRRLSAMEKG
210 220 230 240
KLHKPGKDAS KRGRQTPVLY AMLDHSRSTK AVSEKKAKGL GESRKDKK
Length:248
Mass (Da):27,555
Last modified:May 1, 1992 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iA93F4744DACB0D5E
GO
Isoform L-MPZ (identifier: P25189-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     248-248: K → KRLAGRAGDRGLGVESAKGPKVMVIEMELRKDEQSPELRPAVKSPSRTSLKNALKNMMGLNSDK

Note: Based on a naturally occurring readthrough transcript. Highly antigenic.Curated
Show »
Length:311
Mass (Da):34,387
Checksum:i04FA6B8C665820CB
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A5F9ZI26A0A5F9ZI26_HUMAN
Myelin protein P0
MPZ
312Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0J9YWT2A0A0J9YWT2_HUMAN
Myelin protein P0
MPZ
136Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PL80E9PL80_HUMAN
Myelin protein P0
MPZ
52Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH06491 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence AAP35411 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence BAA03540 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence BAG36330 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence EAW52606 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00450030I → M in CMT1B. 1 PublicationCorresponds to variant dbSNP:rs770546306EnsemblClinVar.1
Natural variantiVAR_00450132V → F in CMT1B; severe. 1 Publication1
Natural variantiVAR_00450234T → I in CMT1B. 1 Publication1
Natural variantiVAR_01597135D → Y in CMT1B and CMTDID. 2 PublicationsCorresponds to variant dbSNP:rs121913596EnsemblClinVar.1
Natural variantiVAR_05439339H → P in CMT1B; slightly reduces intercellular adhesion; does not affect targeting to the cell membrane. 2 PublicationsCorresponds to variant dbSNP:rs371856018EnsemblClinVar.1
Natural variantiVAR_03188442Missing in DSS. 1 Publication1
Natural variantiVAR_00450344S → F in CMT2I and CMT1B. 2 PublicationsCorresponds to variant dbSNP:rs121913598EnsemblClinVar.1
Natural variantiVAR_05439450Missing in CMT1B. 1 Publication1
Natural variantiVAR_05439551 – 57Missing in CMT1B; affects targeting to the cell membrane; reduces intercellular adhesion. 1 Publication7
Natural variantiVAR_02997151S → F in CMT1B. 1 PublicationCorresponds to variant dbSNP:rs1553259790EnsemblClinVar.1
Natural variantiVAR_00450454S → C in CMT1B; severe. 1
Natural variantiVAR_00450554S → P in CMT1B. 1 Publication1
Natural variantiVAR_05439656E → K in CMT2. 1 Publication1
Natural variantiVAR_00450658V → F in CMT1B; moderate. 1 Publication1
Natural variantiVAR_02997260D → H in CMT2I. 1 PublicationCorresponds to variant dbSNP:rs121913604EnsemblClinVar.1
Natural variantiVAR_03188561D → G in CMT2; unclassified. 1 PublicationCorresponds to variant dbSNP:rs786204119EnsemblClinVar.1
Natural variantiVAR_01597262I → F in CMT1B. 2 PublicationsCorresponds to variant dbSNP:rs121913602EnsemblClinVar.1
Natural variantiVAR_02997362I → M in CMT2I. 1 PublicationCorresponds to variant dbSNP:rs121913605EnsemblClinVar.1
Natural variantiVAR_00450863S → C in DSS. 1 PublicationCorresponds to variant dbSNP:rs121913585EnsemblClinVar.1
Natural variantiVAR_00450963S → F in CMT1B. 2 PublicationsCorresponds to variant dbSNP:rs121913585EnsemblClinVar.1
Natural variantiVAR_00450763Missing in CMT1B. 3 Publications1
Natural variantiVAR_00451064Missing in CMT1B and DSS. 1 Publication1
Natural variantiVAR_03188665T → A in CMT1B. 1 PublicationCorresponds to variant dbSNP:rs1553259760EnsemblClinVar.1
Natural variantiVAR_02997465T → I in CMT1B. 1 Publication1
Natural variantiVAR_00451168Y → C in CMT1B; severe/mild. 4 Publications1
Natural variantiVAR_01597375D → V in CMT2J and CMT2I. 3 PublicationsCorresponds to variant dbSNP:rs121913597EnsemblClinVar.1
Natural variantiVAR_00451278S → L in CMT1B; severe. 8 PublicationsCorresponds to variant dbSNP:rs121913601EnsemblClinVar.1
Natural variantiVAR_03188778S → W in CMT1B. 1 PublicationCorresponds to variant dbSNP:rs121913601EnsemblClinVar.1
Natural variantiVAR_00451381H → R in CMT1B and CMT2I; severe; reduces intercellular adhesion; does not affect targeting to the cell membrane. 3 PublicationsCorresponds to variant dbSNP:rs121913594EnsemblClinVar.1
Natural variantiVAR_03188881H → Y in CMT; associated with F-113. 1 PublicationCorresponds to variant dbSNP:rs281865123EnsemblClinVar.1
Natural variantiVAR_00451482Y → C in CMT1B and DSS. 4 PublicationsCorresponds to variant dbSNP:rs1553259707EnsemblClinVar.1
Natural variantiVAR_01597489I → N in CMT2I; patient carrying also Met-92 and Met-162. 1 PublicationCorresponds to variant dbSNP:rs267607244EnsemblClinVar.1
Natural variantiVAR_00451590D → E in CMT1B. 1 PublicationCorresponds to variant dbSNP:rs121913584EnsemblClinVar.1
Natural variantiVAR_01597592V → M in CMT2I; patient carrying also Asn-89 and Met-162. 1 PublicationCorresponds to variant dbSNP:rs267607245EnsemblClinVar.1
Natural variantiVAR_00451693G → E in CMT1B. 2 PublicationsCorresponds to variant dbSNP:rs1060503418EnsemblClinVar.1
Natural variantiVAR_00451796K → E in CMT1B. 2 PublicationsCorresponds to variant dbSNP:rs121913583EnsemblClinVar.1
Natural variantiVAR_02997597E → V in CMT2J. 1 PublicationCorresponds to variant dbSNP:rs121913606EnsemblClinVar.1
Natural variantiVAR_00451898R → C in CMT1B and DSS; severe. 5 PublicationsCorresponds to variant dbSNP:rs121913590EnsemblClinVar.1
Natural variantiVAR_00451998R → H in CMT1B. 6 PublicationsCorresponds to variant dbSNP:rs121913589EnsemblClinVar.1
Natural variantiVAR_00452098R → P in CMT1B. Corresponds to variant dbSNP:rs121913589EnsemblClinVar.1
Natural variantiVAR_00452198R → S in CMT1B. 1 Publication1
Natural variantiVAR_00452299I → T in CMT1B. 1
Natural variantiVAR_004523101W → C in CMT1B. 1 Publication1
Natural variantiVAR_015976103G → E in CMT1B. 1 PublicationCorresponds to variant dbSNP:rs121913600EnsemblClinVar.1
Natural variantiVAR_031889109D → N in CMT1B. 1 PublicationCorresponds to variant dbSNP:rs1060503420EnsemblClinVar.1
Natural variantiVAR_029976110G → D in DSS. 1 Publication1
Natural variantiVAR_004524112I → T in CMT1B; severe. 1 PublicationCorresponds to variant dbSNP:rs1553259662EnsemblClinVar.1
Natural variantiVAR_031890113V → F in CMT; unclassified; associated with Y-81. 1 PublicationCorresponds to variant dbSNP:rs281865126EnsemblClinVar.1
Natural variantiVAR_029977113V → I in CMT2. 1 Publication1
Natural variantiVAR_004525114I → T in DSS; associated on the same allele as His-116 and Asn-128 in one patient. 1 PublicationCorresponds to variant dbSNP:rs267607241EnsemblClinVar.1
Natural variantiVAR_004526116N → H in DSS; associated on the same allele as Thr-114 and Asn-128 in one patient. 1 PublicationCorresponds to variant dbSNP:rs267607242EnsemblClinVar.1
Natural variantiVAR_004527118D → DFY in DSS. 1 Publication1
Natural variantiVAR_021609118D → N in CMT2I. 1 Publication1
Natural variantiVAR_031891119Y → C in CMT2; unclassified. 1 PublicationCorresponds to variant dbSNP:rs879254038EnsemblClinVar.1
Natural variantiVAR_004528122N → S in CMT1B; loss of glycosylation site. 1 Publication1
Natural variantiVAR_015977123G → C in DSS and CMT1B. 2 Publications1
Natural variantiVAR_004530124 – 125Missing in DSS. 2 Publications