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Protein

Myelin protein P0

Gene

MPZ

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Creation of an extracellular membrane face which guides the wrapping process and ultimately compacts adjacent lamellae.

GO - Molecular functioni

  • structural molecule activity Source: ProtInc

GO - Biological processi

  • chemical synaptic transmission Source: ProtInc
  • negative regulation of apoptotic process Source: Ensembl
Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000158887-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Myelin protein P0
Alternative name(s):
Myelin peripheral protein
Short name:
MPP
Myelin protein zero
Gene namesi
Name:MPZ
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:7225. MPZ.

Subcellular locationi

Isoform L-MPZ :

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini30 – 153ExtracellularSequence analysisAdd BLAST124
Transmembranei154 – 179HelicalSequence analysisAdd BLAST26
Topological domaini180 – 248CytoplasmicSequence analysisAdd BLAST69

GO - Cellular componenti

  • basolateral plasma membrane Source: Ensembl
  • integral component of plasma membrane Source: ProtInc
  • lysosome Source: Ensembl
  • myelin sheath Source: UniProtKB-SubCell
  • plasma membrane Source: ProtInc
  • rough endoplasmic reticulum Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Charcot-Marie-Tooth disease 1B (CMT1B)38 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.
See also OMIM:118200
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00450030I → M in CMT1B. 1 Publication1
Natural variantiVAR_00450132V → F in CMT1B; severe. 1 Publication1
Natural variantiVAR_00450234T → I in CMT1B. 1 Publication1
Natural variantiVAR_05439339H → P in CMT1B; slightly reduces intercellular adhesion; does not affect targeting to the cell membrane. 2 PublicationsCorresponds to variant rs371856018dbSNPEnsembl.1
Natural variantiVAR_00450344S → F in CMT2I and CMT1B. 2 PublicationsCorresponds to variant rs121913598dbSNPEnsembl.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 Publication1
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 rs121913602dbSNPEnsembl.1
Natural variantiVAR_00450963S → F in CMT1B. 2 PublicationsCorresponds to variant rs121913585dbSNPEnsembl.1
Natural variantiVAR_00450763Missing in CMT1B. 3 Publications1
Natural variantiVAR_00451064Missing in CMT1B and DSS. 1 Publication1
Natural variantiVAR_03188665T → A in CMT1B. 1 Publication1
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 rs121913601dbSNPEnsembl.1
Natural variantiVAR_03188778S → W in CMT1B. 1 Publication1
Natural variantiVAR_00451381H → R in CMT1B; severe; reduces intercellular adhesion; does not affect targeting to the cell membrane. 3 PublicationsCorresponds to variant rs121913594dbSNPEnsembl.1
Natural variantiVAR_00451482Y → C in CMT1B and DSS. 4 Publications1
Natural variantiVAR_00451590D → E in CMT1B. 1 PublicationCorresponds to variant rs121913584dbSNPEnsembl.1
Natural variantiVAR_00451693G → E in CMT1B. 2 Publications1
Natural variantiVAR_00451796K → E in CMT1B. 2 PublicationsCorresponds to variant rs121913583dbSNPEnsembl.1
Natural variantiVAR_00451898R → C in CMT1B; severe and DSS. 5 PublicationsCorresponds to variant rs121913590dbSNPEnsembl.1
Natural variantiVAR_00451998R → H in CMT1B. 6 PublicationsCorresponds to variant rs121913589dbSNPEnsembl.1
Natural variantiVAR_00452098R → P in CMT1B. Corresponds to variant rs121913589dbSNPEnsembl.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 rs121913600dbSNPEnsembl.1
Natural variantiVAR_031889109D → N in CMT1B. 1 Publication1
Natural variantiVAR_004524112I → T in CMT1B; severe. 1 Publication1
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 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 rs121913595dbSNPEnsembl.1
Natural variantiVAR_004532128D → E in CMT1B. 1
Natural variantiVAR_004534130K → R in CMT1B and DSS. 4 PublicationsCorresponds to variant rs281865127dbSNPEnsembl.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 Publication1
Natural variantiVAR_004538135I → L in CMT1B and DSS. 1 Publication1
Natural variantiVAR_004539135I → T in CMT1B. 2 PublicationsCorresponds to variant rs121913587dbSNPEnsembl.1
Natural variantiVAR_004540137G → S in CMT1B. 1 PublicationCorresponds to variant rs121913588dbSNPEnsembl.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 rs572010627dbSNPEnsembl.1
Natural variantiVAR_004541143T → M in CMT1B. Corresponds to variant rs750724650dbSNPEnsembl.1
Natural variantiVAR_029983145Y → S in CMT1B. 1 PublicationCorresponds to variant rs121913603dbSNPEnsembl.1
Natural variantiVAR_029984146V → F in CMT1B. 1 Publication1
Natural variantiVAR_004542163G → R in CMT1B. 2 PublicationsCorresponds to variant rs281865128dbSNPEnsembl.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 rs267607247dbSNPEnsembl.1
Natural variantiVAR_054398227R → S in CMT1B. 1 Publication1
Natural variantiVAR_029987236Missing in CMT1B. 1 Publication1
Charcot-Marie-Tooth disease 2I (CMT2I)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. Nerve conduction velocities are normal or slightly reduced.
See also OMIM:607677
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00450344S → F in CMT2I and CMT1B. 2 PublicationsCorresponds to variant rs121913598dbSNPEnsembl.1
Natural variantiVAR_02997260D → H in CMT2I. 1 PublicationCorresponds to variant rs121913604dbSNPEnsembl.1
Natural variantiVAR_02997362I → M in CMT2I. 1 PublicationCorresponds to variant rs121913605dbSNPEnsembl.1
Natural variantiVAR_01597489I → N in CMT2I; patient carrying also Met-92 and Met-162. 1 PublicationCorresponds to variant rs267607244dbSNPEnsembl.1
Natural variantiVAR_01597592V → M in CMT2I; patient carrying also Asn-89 and Met-162. 1 PublicationCorresponds to variant rs267607245dbSNPEnsembl.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 rs267607246dbSNPEnsembl.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. Nerve conduction velocities are normal or slightly reduced. 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.
See also OMIM:607736
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01597375D → V in CMT2J. 3 PublicationsCorresponds to variant rs121913597dbSNPEnsembl.1
Natural variantiVAR_02997597E → V in CMT2J. 1 PublicationCorresponds to variant rs121913606dbSNPEnsembl.1
Natural variantiVAR_004529124T → M in CMT1B 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 rs121913595dbSNPEnsembl.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.
See also OMIM:103100
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.
See also OMIM:607791
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01597135D → Y in CMTDID. 2 PublicationsCorresponds to variant rs121913596dbSNPEnsembl.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.
See also OMIM:145900
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03188442Missing in DSS. 1 Publication1
Natural variantiVAR_00450863S → C in DSS. 1 PublicationCorresponds to variant rs121913585dbSNPEnsembl.1
Natural variantiVAR_00451064Missing in CMT1B and DSS. 1 Publication1
Natural variantiVAR_00451482Y → C in CMT1B and DSS. 4 Publications1
Natural variantiVAR_00451898R → C in CMT1B; severe and DSS. 5 PublicationsCorresponds to variant rs121913590dbSNPEnsembl.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 rs267607241dbSNPEnsembl.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 rs267607242dbSNPEnsembl.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 rs267607243dbSNPEnsembl.1
Natural variantiVAR_004534130K → R in CMT1B and DSS. 4 PublicationsCorresponds to variant rs281865127dbSNPEnsembl.1
Natural variantiVAR_004538135I → L in CMT1B and DSS. 1 Publication1
Natural variantiVAR_015979136V → E in DSS. 1 Publication1
Natural variantiVAR_004543167G → A in CMT1B and DSS; severe. 1 Publication1
Natural variantiVAR_004544167G → R in DSS and CMT. 2 PublicationsCorresponds to variant rs121913586dbSNPEnsembl.1
Natural variantiVAR_031892221A → T in DSS. 1 Publication1
Neuropathy, congenital hypomyelinating or amyelinating (CHN)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:605253
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_029978124T → K in CHN. 1 PublicationCorresponds to variant rs121913595dbSNPEnsembl.1
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.
See also OMIM:180800
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_015978131N → K in ROULS. 1 PublicationCorresponds to variant rs121913599dbSNPEnsembl.1

Keywords - Diseasei

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

Organism-specific databases

DisGeNETi4359.
MalaCardsiMPZ.
MIMi103100. phenotype.
118200. phenotype.
145900. phenotype.
180800. phenotype.
605253. phenotype.
607677. phenotype.
607736. phenotype.
607791. phenotype.
OpenTargetsiENSG00000158887.
Orphaneti99942. 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.
3115. Roussy-Levy syndrome.
PharmGKBiPA30930.

Polymorphism and mutation databases

BioMutaiMPZ.
DMDMi127721.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 29Add BLAST29
ChainiPRO_000001930030 – 248Myelin protein P0Add BLAST219

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi50 ↔ 127PROSITE-ProRule annotation1 Publication
Glycosylationi122N-linked (GlcNAc...) (complex)By similarity1
Modified residuei210Phosphoserine; by PKCBy similarity1
Modified residuei226PhosphoserineBy similarity1
Modified residuei228PhosphoserineBy similarity1
Modified residuei233Phosphoserine; by PKCBy similarity1
Modified residuei243Phosphoserine; by PKCBy similarity1

Post-translational modificationi

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

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

MaxQBiP25189.
PaxDbiP25189.
PeptideAtlasiP25189.
PRIDEiP25189.

PTM databases

iPTMnetiP25189.
PhosphoSitePlusiP25189.

Expressioni

Tissue specificityi

Found only in peripheral nervous system Schwann cells.

Gene expression databases

BgeeiENSG00000158887.
CleanExiHS_MPZ.
ExpressionAtlasiP25189. baseline and differential.
GenevisibleiP25189. HS.

Interactioni

Subunit structurei

Homodimer and homotetramer.1 Publication

Protein-protein interaction databases

BioGridi110499. 2 interactors.
IntActiP25189. 3 interactors.
MINTiMINT-1390651.
STRINGi9606.ENSP00000431538.

Structurei

Secondary structure

1248
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi36 – 41Combined sources6
Beta strandi46 – 48Combined sources3
Beta strandi63 – 70Combined sources8
Beta strandi77 – 83Combined sources7
Beta strandi86 – 89Combined sources4
Turni94 – 98Combined sources5
Beta strandi99 – 101Combined sources3
Helixi105 – 107Combined sources3
Beta strandi112 – 114Combined sources3
Helixi119 – 121Combined sources3
Beta strandi123 – 131Combined sources9
Beta strandi134 – 148Combined sources15

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1N2Pmodel-A1-248[»]
3OAIX-ray2.10A/B30-150[»]
ProteinModelPortaliP25189.
SMRiP25189.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini30 – 143Ig-like V-typeAdd BLAST114

Sequence similaritiesi

Belongs to the myelin P0 protein family.Curated

Keywords - Domaini

Immunoglobulin domain, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IJG4. Eukaryota.
ENOG4111R0Y. LUCA.
GeneTreeiENSGT00640000091161.
HOGENOMiHOG000232144.
HOVERGENiHBG096384.
InParanoidiP25189.
KOiK06770.
OMAiYAMLDHS.
OrthoDBiEOG091G0H91.
PhylomeDBiP25189.
TreeFamiTF331728.

Family and domain databases

Gene3Di2.60.40.10. 1 hit.
InterProiIPR007110. Ig-like_dom.
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.
[Graphical view]
PANTHERiPTHR13869. PTHR13869. 1 hit.
PTHR13869:SF7. PTHR13869:SF7. 1 hit.
PfamiPF10570. Myelin-PO_C. 1 hit.
PF07686. V-set. 1 hit.
[Graphical view]
PRINTSiPR00213. MYELINP0.
SMARTiSM00409. IG. 1 hit.
SM00406. IGv. 1 hit.
[Graphical view]
SUPFAMiSSF48726. SSF48726. 1 hit.
PROSITEiPS50835. IG_LIKE. 1 hit.
PS00568. MYELIN_P0. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

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

This isoform has been chosen as the 'canonical' 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
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.
Show »
Length:311
Mass (Da):34,387
Checksum:i04FA6B8C665820CB
GO

Sequence cautioni

The sequence AAH06491 differs from that shown. Reason: Erroneous initiation.Curated
The sequence AAP35411 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAA03540 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAG36330 differs from that shown. Reason: Erroneous initiation.Curated
The sequence CAH70270 differs from that shown. Reason: Erroneous initiation.Curated
The sequence EAW52606 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00450030I → M in CMT1B. 1 Publication1
Natural variantiVAR_00450132V → F in CMT1B; severe. 1 Publication1
Natural variantiVAR_00450234T → I in CMT1B. 1 Publication1
Natural variantiVAR_01597135D → Y in CMTDID. 2 PublicationsCorresponds to variant rs121913596dbSNPEnsembl.1
Natural variantiVAR_05439339H → P in CMT1B; slightly reduces intercellular adhesion; does not affect targeting to the cell membrane. 2 PublicationsCorresponds to variant rs371856018dbSNPEnsembl.1
Natural variantiVAR_03188442Missing in DSS. 1 Publication1
Natural variantiVAR_00450344S → F in CMT2I and CMT1B. 2 PublicationsCorresponds to variant rs121913598dbSNPEnsembl.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 Publication1
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 rs121913604dbSNPEnsembl.1
Natural variantiVAR_03188561D → G in CMT2; unclassified. 1 PublicationCorresponds to variant rs786204119dbSNPEnsembl.1
Natural variantiVAR_01597262I → F in CMT1B. 2 PublicationsCorresponds to variant rs121913602dbSNPEnsembl.1
Natural variantiVAR_02997362I → M in CMT2I. 1 PublicationCorresponds to variant rs121913605dbSNPEnsembl.1
Natural variantiVAR_00450863S → C in DSS. 1 PublicationCorresponds to variant rs121913585dbSNPEnsembl.1
Natural variantiVAR_00450963S → F in CMT1B. 2 PublicationsCorresponds to variant rs121913585dbSNPEnsembl.1
Natural variantiVAR_00450763Missing in CMT1B. 3 Publications1
Natural variantiVAR_00451064Missing in CMT1B and DSS. 1 Publication1
Natural variantiVAR_03188665T → A in CMT1B. 1 Publication1
Natural variantiVAR_02997465T → I in CMT1B. 1 Publication1
Natural variantiVAR_00451168Y → C in CMT1B; severe/mild. 4 Publications1
Natural variantiVAR_01597375D → V in CMT2J. 3 PublicationsCorresponds to variant rs121913597dbSNPEnsembl.1
Natural variantiVAR_00451278S → L in CMT1B; severe. 8 PublicationsCorresponds to variant rs121913601dbSNPEnsembl.1
Natural variantiVAR_03188778S → W in CMT1B. 1 Publication1
Natural variantiVAR_00451381H → R in CMT1B; severe; reduces intercellular adhesion; does not affect targeting to the cell membrane. 3 PublicationsCorresponds to variant rs121913594dbSNPEnsembl.1
Natural variantiVAR_03188881H → Y in CMT; associated with F-113. 1 PublicationCorresponds to variant rs281865123dbSNPEnsembl.1
Natural variantiVAR_00451482Y → C in CMT1B and DSS. 4 Publications1
Natural variantiVAR_01597489I → N in CMT2I; patient carrying also Met-92 and Met-162. 1 PublicationCorresponds to variant rs267607244dbSNPEnsembl.1
Natural variantiVAR_00451590D → E in CMT1B. 1 PublicationCorresponds to variant rs121913584dbSNPEnsembl.1
Natural variantiVAR_01597592V → M in CMT2I; patient carrying also Asn-89 and Met-162. 1 PublicationCorresponds to variant rs267607245dbSNPEnsembl.1
Natural variantiVAR_00451693G → E in CMT1B. 2 Publications1
Natural variantiVAR_00451796K → E in CMT1B. 2 PublicationsCorresponds to variant rs121913583dbSNPEnsembl.1
Natural variantiVAR_02997597E → V in CMT2J. 1 PublicationCorresponds to variant rs121913606dbSNPEnsembl.1
Natural variantiVAR_00451898R → C in CMT1B; severe and DSS. 5 PublicationsCorresponds to variant rs121913590dbSNPEnsembl.1
Natural variantiVAR_00451998R → H in CMT1B. 6 PublicationsCorresponds to variant rs121913589dbSNPEnsembl.1
Natural variantiVAR_00452098R → P in CMT1B. Corresponds to variant rs121913589dbSNPEnsembl.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 rs121913600dbSNPEnsembl.1
Natural variantiVAR_031889109D → N in CMT1B. 1 Publication1
Natural variantiVAR_029976110G → D in DSS. 1 Publication1
Natural variantiVAR_004524112I → T in CMT1B; severe. 1 Publication1
Natural variantiVAR_031890113V → F in CMT; unclassified; associated with Y-81. 1 PublicationCorresponds to variant rs281865126dbSNPEnsembl.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 rs267607241dbSNPEnsembl.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 rs267607242dbSNPEnsembl.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 Publication1
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 Publications2
Natural variantiVAR_029978124T → K in CHN. 1 PublicationCorresponds to variant rs121913595dbSNPEnsembl.1
Natural variantiVAR_004529124T → M in CMT1B 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 rs121913595dbSNPEnsembl.1
Natural variantiVAR_004531127C → Y in DSS. 1
Natural variantiVAR_004532128D → E in CMT1B. 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 rs267607243dbSNPEnsembl.1
Natural variantiVAR_004534130K → R in CMT1B and DSS. 4 PublicationsCorresponds to variant rs281865127dbSNPEnsembl.1
Natural variantiVAR_015978131N → K in ROULS. 1 PublicationCorresponds to variant rs121913599dbSNPEnsembl.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 Publication1
Natural variantiVAR_004538135I → L in CMT1B and DSS. 1 Publication1
Natural variantiVAR_004539135I → T in CMT1B. 2 PublicationsCorresponds to variant rs121913587dbSNPEnsembl.1
Natural variantiVAR_015979136V → E in DSS. 1 Publication1
Natural variantiVAR_004540137G → S in CMT1B. 1 PublicationCorresponds to variant rs121913588dbSNPEnsembl.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 rs572010627dbSNPEnsembl.1
Natural variantiVAR_004541143T → M in CMT1B. Corresponds to variant rs750724650dbSNPEnsembl.1
Natural variantiVAR_029983145Y → S in CMT1B. 1 PublicationCorresponds to variant rs121913603dbSNPEnsembl.1
Natural variantiVAR_029984146V → F in CMT1B. 1 Publication1
Natural variantiVAR_015980162I → M in CMT2I; patient carrying also Asn-89 and Met-92. 1 PublicationCorresponds to variant rs267607246dbSNPEnsembl.1
Natural variantiVAR_004542163G → R in CMT1B. 2 Publications