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P25189

- MYP0_HUMAN

UniProt

P25189 - MYP0_HUMAN

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Protein

Myelin protein P0

Gene

MPZ

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. structural molecule activity Source: ProtInc

GO - Biological processi

  1. cell-cell junction maintenance Source: Ensembl
  2. cell death Source: UniProtKB-KW
  3. synaptic transmission Source: ProtInc
Complete GO annotation...

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
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:7225. MPZ.

Subcellular locationi

Isoform L-MPZ : Myelin membrane 1 Publication; Single-pass type I membrane protein 1 Publication

GO - Cellular componenti

  1. integral component of plasma membrane Source: ProtInc
  2. plasma membrane Source: ProtInc
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200]: A 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.38 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti30 – 301I → M in CMT1B. 1 Publication
VAR_004500
Natural varianti32 – 321V → F in CMT1B; severe. 1 Publication
VAR_004501
Natural varianti34 – 341T → I in CMT1B. 1 Publication
VAR_004502
Natural varianti39 – 391H → P in CMT1B; slightly reduces intercellular adhesion; does not affect targeting to the cell membrane. 1 Publication
VAR_054393
Natural varianti44 – 441S → F in CMT2I and CMT1B. 2 Publications
VAR_004503
Natural varianti50 – 501Missing in CMT1B. 1 Publication
VAR_054394
Natural varianti51 – 577Missing in CMT1B; affects targeting to the cell membrane; reduces intercellular adhesion.
VAR_054395
Natural varianti51 – 511S → F in CMT1B. 1 Publication
VAR_029971
Natural varianti54 – 541S → C in CMT1B; severe.
VAR_004504
Natural varianti54 – 541S → P in CMT1B. 1 Publication
VAR_004505
Natural varianti58 – 581V → F in CMT1B; moderate. 1 Publication
VAR_004506
Natural varianti62 – 621I → F in CMT1B. 2 Publications
VAR_015972
Natural varianti63 – 631S → F in CMT1B. 2 Publications
VAR_004509
Natural varianti63 – 631Missing in CMT1B. 3 Publications
VAR_004507
Natural varianti64 – 641Missing in CMT1B and DSS. 1 Publication
VAR_004510
Natural varianti65 – 651T → A in CMT1B. 1 Publication
VAR_031886
Natural varianti65 – 651T → I in CMT1B. 1 Publication
VAR_029974
Natural varianti68 – 681Y → C in CMT1B; severe/mild. 4 Publications
VAR_004511
Natural varianti78 – 781S → L in CMT1B; severe. 8 Publications
VAR_004512
Natural varianti78 – 781S → W in CMT1B. 1 Publication
VAR_031887
Natural varianti81 – 811H → R in CMT1B; severe; reduces intercellular adhesion; does not affect targeting to the cell membrane. 2 Publications
VAR_004513
Natural varianti82 – 821Y → C in CMT1B and DSS. 4 Publications
VAR_004514
Natural varianti90 – 901D → E in CMT1B. 1 Publication
VAR_004515
Natural varianti93 – 931G → E in CMT1B. 2 Publications
VAR_004516
Natural varianti96 – 961K → E in CMT1B. 2 Publications
VAR_004517
Natural varianti98 – 981R → C in CMT1B; severe and DSS. 5 Publications
VAR_004518
Natural varianti98 – 981R → H in CMT1B. 6 Publications
VAR_004519
Natural varianti98 – 981R → P in CMT1B.
VAR_004520
Natural varianti98 – 981R → S in CMT1B. 1 Publication
VAR_004521
Natural varianti99 – 991I → T in CMT1B.
VAR_004522
Natural varianti101 – 1011W → C in CMT1B. 1 Publication
VAR_004523
Natural varianti103 – 1031G → E in CMT1B. 1 Publication
VAR_015976
Natural varianti109 – 1091D → N in CMT1B. 1 Publication
VAR_031889
Natural varianti112 – 1121I → T in CMT1B; severe. 1 Publication
VAR_004524
Natural varianti122 – 1221N → S in CMT1B; loss of glycosylation site. 1 Publication
VAR_004528
Natural varianti123 – 1231G → C in DSS and CMT1B. 2 Publications
VAR_015977
Natural varianti124 – 1241T → M in CMT1B and CMT2J; CMTJ2 patients present Adie pupil; slightly reduces intercellular adhesion; does not affect targeting to the cell membrane; affects glycosylation. 10 Publications
VAR_004529
Natural varianti128 – 1281D → E in CMT1B.
VAR_004532
Natural varianti130 – 1301K → R in CMT1B and DSS. 4 Publications
VAR_004534
Natural varianti132 – 1321P → L in CMT1B; moderate. 1 Publication
VAR_004535
Natural varianti134 – 1341D → E in CMT1B. 2 Publications
VAR_004536
Natural varianti134 – 1341D → G in CMT1B. 1 Publication
VAR_029979
Natural varianti134 – 1341D → N in CMT1B. 1 Publication
VAR_004537
Natural varianti135 – 1351I → L in CMT1B and DSS. 1 Publication
VAR_004538
Natural varianti135 – 1351I → T in CMT1B. 2 Publications
VAR_004539
Natural varianti137 – 1371G → S in CMT1B. 1 Publication
VAR_004540
Natural varianti138 – 1381K → N in CMT1B. 1 Publication
VAR_029980
Natural varianti139 – 1391T → N in CMT1B. 1 Publication
VAR_029981
Natural varianti140 – 1401S → T in CMT1B. 2 Publications
VAR_029982
Natural varianti143 – 1431T → M in CMT1B.
VAR_004541
Natural varianti145 – 1451Y → S in CMT1B. 1 Publication
VAR_029983
Natural varianti146 – 1461V → F in CMT1B. 1 Publication
VAR_029984
Natural varianti163 – 1631G → R in CMT1B. 2 Publications
VAR_004542
Natural varianti167 – 1671G → A in CMT1B and DSS; severe. 1 Publication
VAR_004543
Natural varianti170 – 1701L → R in CMT1B. 1 Publication
VAR_029985
Natural varianti216 – 2161T → ER in CMT1B; referred to as 'T216ER'.
VAR_029986
Natural varianti224 – 2241D → Y in CMT1B; also in two asymptomatic individuals from the same family. 1 Publication
VAR_054397
Natural varianti227 – 2271R → S in CMT1B. 1 Publication
VAR_054398
Natural varianti236 – 2361Missing in CMT1B. 1 Publication
VAR_029987
Charcot-Marie-Tooth disease 2I (CMT2I) [MIM:607677]: A 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.4 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti44 – 441S → F in CMT2I and CMT1B. 2 Publications
VAR_004503
Natural varianti60 – 601D → H in CMT2I. 1 Publication
VAR_029972
Natural varianti62 – 621I → M in CMT2I. 1 Publication
VAR_029973
Natural varianti89 – 891I → N in CMT2I; patient carrying also Met-92 and Met-162. 1 Publication
VAR_015974
Natural varianti92 – 921V → M in CMT2I; patient carrying also Asn-89 and Met-162. 1 Publication
VAR_015975
Natural varianti118 – 1181D → N in CMT2I. 1 Publication
VAR_021609
Natural varianti162 – 1621I → M in CMT2I; patient carrying also Asn-89 and Met-92. 1 Publication
VAR_015980
Natural varianti236 – 2361K → E in CMT2I. 1 Publication
VAR_021610
Charcot-Marie-Tooth disease 2J (CMT2J) [MIM:607736]: A 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.4 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti75 – 751D → V in CMT2J. 3 Publications
VAR_015973
Natural varianti97 – 971E → V in CMT2J. 1 Publication
VAR_029975
Natural varianti124 – 1241T → M in CMT1B and CMT2J; CMTJ2 patients present Adie pupil; slightly reduces intercellular adhesion; does not affect targeting to the cell membrane; affects glycosylation. 10 Publications
VAR_004529
Adie pupil (ADIEP) [MIM:103100]: A 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Charcot-Marie-Tooth disease, dominant, intermediate type, D (CMTDID) [MIM:607791]: A 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.1 Publication
Note: The disease may be caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti35 – 351D → Y in CMTDID. 2 Publications
VAR_015971
Dejerine-Sottas syndrome (DSS) [MIM:145900]: A 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.12 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti42 – 421Missing in DSS. 1 Publication
VAR_031884
Natural varianti63 – 631S → C in DSS. 1 Publication
VAR_004508
Natural varianti64 – 641Missing in CMT1B and DSS. 1 Publication
VAR_004510
Natural varianti82 – 821Y → C in CMT1B and DSS. 4 Publications
VAR_004514
Natural varianti98 – 981R → C in CMT1B; severe and DSS. 5 Publications
VAR_004518
Natural varianti110 – 1101G → D in DSS. 1 Publication
VAR_029976
Natural varianti114 – 1141I → T in DSS; associated on the same allele as His-116 and Asn-128 in one patient. 1 Publication
VAR_004525
Natural varianti116 – 1161N → H in DSS; associated on the same allele as Thr-114 and Asn-128 in one patient. 1 Publication
VAR_004526
Natural varianti118 – 1181D → DFY in DSS. 1 Publication
VAR_004527
Natural varianti123 – 1231G → C in DSS and CMT1B. 2 Publications
VAR_015977
Natural varianti124 – 1252Missing in DSS. 2 Publications
VAR_004530
Natural varianti127 – 1271C → Y in DSS.
VAR_004531
Natural varianti128 – 1281D → N in DSS; associated on the same allele as Thr-114 and His-116 in one patient. 1 Publication
VAR_004533
Natural varianti130 – 1301K → R in CMT1B and DSS. 4 Publications
VAR_004534
Natural varianti135 – 1351I → L in CMT1B and DSS. 1 Publication
VAR_004538
Natural varianti136 – 1361V → E in DSS. 1 Publication
VAR_015979
Natural varianti167 – 1671G → A in CMT1B and DSS; severe. 1 Publication
VAR_004543
Natural varianti167 – 1671G → R in DSS and CMT. 2 Publications
VAR_004544
Natural varianti221 – 2211A → T in DSS. 1 Publication
VAR_031892
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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti124 – 1241T → K in CHN. 1 Publication
VAR_029978
Roussy-Levy syndrome (ROULS) [MIM:180800]: Autosomal 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti131 – 1311N → K in ROULS. 1 Publication
VAR_015978

Keywords - Diseasei

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

Organism-specific databases

MIMi103100. phenotype.
118200. phenotype.
145900. phenotype.
180800. phenotype.
605253. phenotype.
607677. phenotype.
607736. phenotype.
607791. phenotype.
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.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2929Add
BLAST
Chaini30 – 248219Myelin protein P0PRO_0000019300Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi50 ↔ 1271 PublicationPROSITE-ProRule annotation
Glycosylationi122 – 1221N-linked (GlcNAc...) (complex)By similarity
Modified residuei210 – 2101Phosphoserine; by PKCBy similarity
Modified residuei226 – 2261PhosphoserineBy similarity
Modified residuei228 – 2281PhosphoserineBy similarity
Modified residuei233 – 2331Phosphoserine; by PKCBy similarity
Modified residuei243 – 2431Phosphoserine; by PKCBy similarity

Post-translational modificationi

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

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

MaxQBiP25189.
PaxDbiP25189.
PRIDEiP25189.

PTM databases

PhosphoSiteiP25189.

Expressioni

Tissue specificityi

Found only in peripheral nervous system Schwann cells.

Gene expression databases

BgeeiP25189.
CleanExiHS_MPZ.
ExpressionAtlasiP25189. baseline and differential.
GenevestigatoriP25189.

Interactioni

Subunit structurei

Homodimer and homotetramer.1 Publication

Protein-protein interaction databases

BioGridi110499. 2 interactions.
IntActiP25189. 3 interactions.
MINTiMINT-1390651.
STRINGi9606.ENSP00000353634.

Structurei

Secondary structure

1
248
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi36 – 416
Beta strandi46 – 483
Beta strandi63 – 708
Beta strandi77 – 837
Beta strandi86 – 894
Turni94 – 985
Beta strandi99 – 1013
Helixi105 – 1073
Beta strandi112 – 1143
Helixi119 – 1213
Beta strandi123 – 1319
Beta strandi134 – 14815

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1N2Pmodel-A1-248[»]
3OAIX-ray2.10A/B30-150[»]
ProteinModelPortaliP25189.
SMRiP25189. Positions 24-150.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini30 – 153124ExtracellularSequence AnalysisAdd
BLAST
Topological domaini180 – 24869CytoplasmicSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei154 – 17926HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini30 – 143114Ig-like V-typeAdd
BLAST

Sequence similaritiesi

Belongs to the myelin P0 protein family.Curated

Keywords - Domaini

Immunoglobulin domain, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG47065.
GeneTreeiENSGT00640000091161.
HOGENOMiHOG000232144.
HOVERGENiHBG096384.
InParanoidiP25189.
KOiK06770.
OrthoDBiEOG7G1V80.
PhylomeDBiP25189.
TreeFamiTF331728.

Family and domain databases

Gene3Di2.60.40.10. 1 hit.
InterProiIPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR013106. Ig_V-set.
IPR003596. Ig_V-set_subgr.
IPR019566. Myelin-PO_C.
IPR019738. Myelin_P0_CS.
IPR000920. Myelin_P0_like.
[Graphical view]
PfamiPF10570. Myelin-PO_C. 1 hit.
PF07686. V-set. 1 hit.
[Graphical view]
PRINTSiPR00213. MYELINP0.
SMARTiSM00406. IGv. 1 hit.
[Graphical view]
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. Align

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 AAH06491.1 differs from that shown. Reason: Erroneous initiation.
The sequence AAP35411.1 differs from that shown. Reason: Erroneous initiation.
The sequence BAA03540.1 differs from that shown. Reason: Erroneous initiation.
The sequence BAG36330.1 differs from that shown. Reason: Erroneous initiation.
The sequence CAH70270.1 differs from that shown. Reason: Erroneous initiation.
The sequence EAW52606.1 differs from that shown. Reason: Erroneous initiation.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti30 – 301I → M in CMT1B. 1 Publication
VAR_004500
Natural varianti32 – 321V → F in CMT1B; severe. 1 Publication
VAR_004501
Natural varianti34 – 341T → I in CMT1B. 1 Publication
VAR_004502
Natural varianti35 – 351D → Y in CMTDID. 2 Publications
VAR_015971
Natural varianti39 – 391H → P in CMT1B; slightly reduces intercellular adhesion; does not affect targeting to the cell membrane. 1 Publication
VAR_054393
Natural varianti42 – 421Missing in DSS. 1 Publication
VAR_031884
Natural varianti44 – 441S → F in CMT2I and CMT1B. 2 Publications
VAR_004503
Natural varianti50 – 501Missing in CMT1B. 1 Publication
VAR_054394
Natural varianti51 – 577Missing in CMT1B; affects targeting to the cell membrane; reduces intercellular adhesion.
VAR_054395
Natural varianti51 – 511S → F in CMT1B. 1 Publication
VAR_029971
Natural varianti54 – 541S → C in CMT1B; severe.
VAR_004504
Natural varianti54 – 541S → P in CMT1B. 1 Publication
VAR_004505
Natural varianti56 – 561E → K in CMT2. 1 Publication
VAR_054396
Natural varianti58 – 581V → F in CMT1B; moderate. 1 Publication
VAR_004506
Natural varianti60 – 601D → H in CMT2I. 1 Publication
VAR_029972
Natural varianti61 – 611D → G in CMT2; unclassified. 1 Publication
VAR_031885
Natural varianti62 – 621I → F in CMT1B. 2 Publications
VAR_015972
Natural varianti62 – 621I → M in CMT2I. 1 Publication
VAR_029973
Natural varianti63 – 631S → C in DSS. 1 Publication
VAR_004508
Natural varianti63 – 631S → F in CMT1B. 2 Publications
VAR_004509
Natural varianti63 – 631Missing in CMT1B. 3 Publications
VAR_004507
Natural varianti64 – 641Missing in CMT1B and DSS. 1 Publication
VAR_004510
Natural varianti65 – 651T → A in CMT1B. 1 Publication
VAR_031886
Natural varianti65 – 651T → I in CMT1B. 1 Publication
VAR_029974
Natural varianti68 – 681Y → C in CMT1B; severe/mild. 4 Publications
VAR_004511
Natural varianti75 – 751D → V in CMT2J. 3 Publications
VAR_015973
Natural varianti78 – 781S → L in CMT1B; severe. 8 Publications
VAR_004512
Natural varianti78 – 781S → W in CMT1B. 1 Publication
VAR_031887
Natural varianti81 – 811H → R in CMT1B; severe; reduces intercellular adhesion; does not affect targeting to the cell membrane. 2 Publications
VAR_004513
Natural varianti81 – 811H → Y in CMT; associated with F-113. 1 Publication
VAR_031888
Natural varianti82 – 821Y → C in CMT1B and DSS. 4 Publications
VAR_004514
Natural varianti89 – 891I → N in CMT2I; patient carrying also Met-92 and Met-162. 1 Publication
VAR_015974
Natural varianti90 – 901D → E in CMT1B. 1 Publication
VAR_004515
Natural varianti92 – 921V → M in CMT2I; patient carrying also Asn-89 and Met-162. 1 Publication
VAR_015975
Natural varianti93 – 931G → E in CMT1B. 2 Publications
VAR_004516
Natural varianti96 – 961K → E in CMT1B. 2 Publications
VAR_004517
Natural varianti97 – 971E → V in CMT2J. 1 Publication
VAR_029975
Natural varianti98 – 981R → C in CMT1B; severe and DSS. 5 Publications
VAR_004518
Natural varianti98 – 981R → H in CMT1B. 6 Publications
VAR_004519
Natural varianti98 – 981R → P in CMT1B.
VAR_004520
Natural varianti98 – 981R → S in CMT1B. 1 Publication
VAR_004521
Natural varianti99 – 991I → T in CMT1B.
VAR_004522
Natural varianti101 – 1011W → C in CMT1B. 1 Publication
VAR_004523
Natural varianti103 – 1031G → E in CMT1B. 1 Publication
VAR_015976
Natural varianti109 – 1091D → N in CMT1B. 1 Publication
VAR_031889
Natural varianti110 – 1101G → D in DSS. 1 Publication
VAR_029976
Natural varianti112 – 1121I → T in CMT1B; severe. 1 Publication
VAR_004524
Natural varianti113 – 1131V → F in CMT; unclassified; associated with Y-81. 1 Publication
VAR_031890
Natural varianti113 – 1131V → I in CMT2. 1 Publication
VAR_029977
Natural varianti114 – 1141I → T in DSS; associated on the same allele as His-116 and Asn-128 in one patient. 1 Publication
VAR_004525
Natural varianti116 – 1161N → H in DSS; associated on the same allele as Thr-114 and Asn-128 in one patient. 1 Publication
VAR_004526
Natural varianti118 – 1181D → DFY in DSS. 1 Publication
VAR_004527
Natural varianti118 – 1181D → N in CMT2I. 1 Publication
VAR_021609
Natural varianti119 – 1191Y → C in CMT2; unclassified. 1 Publication
VAR_031891
Natural varianti122 – 1221N → S in CMT1B; loss of glycosylation site. 1 Publication
VAR_004528
Natural varianti123 – 1231G → C in DSS and CMT1B. 2 Publications
VAR_015977
Natural varianti124 – 1252Missing in DSS. 2 Publications
VAR_004530
Natural varianti124 – 1241T → K in CHN. 1 Publication
VAR_029978
Natural varianti124 – 1241T → M in CMT1B and CMT2J; CMTJ2 patients present Adie pupil; slightly reduces intercellular adhesion; does not affect targeting to the cell membrane; affects glycosylation. 10 Publications
VAR_004529
Natural varianti127 – 1271C → Y in DSS.
VAR_004531
Natural varianti128 – 1281D → E in CMT1B.
VAR_004532
Natural varianti128 – 1281D → N in DSS; associated on the same allele as Thr-114 and His-116 in one patient. 1 Publication
VAR_004533
Natural varianti130 – 1301K → R in CMT1B and DSS. 4 Publications
VAR_004534
Natural varianti131 – 1311N → K in ROULS. 1 Publication
VAR_015978
Natural varianti132 – 1321P → L in CMT1B; moderate. 1 Publication
VAR_004535
Natural varianti134 – 1341D → E in CMT1B. 2 Publications
VAR_004536
Natural varianti134 – 1341D → G in CMT1B. 1 Publication
VAR_029979
Natural varianti134 – 1341D → N in CMT1B. 1 Publication
VAR_004537
Natural varianti135 – 1351I → L in CMT1B and DSS. 1 Publication
VAR_004538
Natural varianti135 – 1351I → T in CMT1B. 2 Publications
VAR_004539
Natural varianti136 – 1361V → E in DSS. 1 Publication
VAR_015979
Natural varianti137 – 1371G → S in CMT1B. 1 Publication
VAR_004540
Natural varianti138 – 1381K → N in CMT1B. 1 Publication
VAR_029980
Natural varianti139 – 1391T → N in CMT1B. 1 Publication
VAR_029981
Natural varianti140 – 1401S → T in CMT1B. 2 Publications
VAR_029982
Natural varianti143 – 1431T → M in CMT1B.
VAR_004541
Natural varianti145 – 1451Y → S in CMT1B. 1 Publication
VAR_029983
Natural varianti146 – 1461V → F in CMT1B. 1 Publication
VAR_029984
Natural varianti162 – 1621I → M in CMT2I; patient carrying also Asn-89 and Met-92. 1 Publication
VAR_015980
Natural varianti163 – 1631G → R in CMT1B. 2 Publications
VAR_004542
Natural varianti167 – 1671G → A in CMT1B and DSS; severe. 1 Publication
VAR_004543
Natural varianti167 – 1671G → R in DSS and CMT. 2 Publications
VAR_004544
Natural varianti170 – 1701L → R in CMT1B. 1 Publication
VAR_029985
Natural varianti216 – 2161T → ER in CMT1B; referred to as 'T216ER'.
VAR_029986
Natural varianti221 – 2211A → T in DSS. 1 Publication
VAR_031892
Natural varianti224 – 2241D → Y in CMT1B; also in two asymptomatic individuals from the same family. 1 Publication
VAR_054397
Natural varianti227 – 2271R → S in CMT1B. 1 Publication
VAR_054398
Natural varianti236 – 2361K → E in CMT2I. 1 Publication
VAR_021610
Natural varianti236 – 2361Missing in CMT1B. 1 Publication
VAR_029987
Natural varianti244 – 2441R → L.
VAR_004545

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei248 – 2481K → KRLAGRAGDRGLGVESAKGP KVMVIEMELRKDEQSPELRP AVKSPSRTSLKNALKNMMGL NSDK in isoform L-MPZ. CuratedVSP_045844

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
D10537 mRNA. Translation: BAA01395.1.
D14720 Genomic DNA. Translation: BAA03540.1. Different initiation.
L24893, L24894 Genomic DNA. Translation: AAA20656.1.
AK313555 mRNA. Translation: BAG36330.1. Different initiation.
BT006765 mRNA. Translation: AAP35411.1. Different initiation.
AL592295 Genomic DNA. Translation: CAH70270.1. Different initiation.
CH471121 Genomic DNA. Translation: EAW52606.1. Different initiation.
BC006491 mRNA. Translation: AAH06491.1. Different initiation.
S66705 mRNA. Translation: AAB28708.1.
U10018, U10017 Genomic DNA. Translation: AAA18981.1.
CCDSiCCDS1229.2. [P25189-1]
PIRiJH0252.
RefSeqiNP_000521.2. NM_000530.6. [P25189-1]
UniGeneiHs.591486.

Genome annotation databases

EnsembliENST00000463290; ENSP00000431538; ENSG00000158887. [P25189-1]
ENST00000533357; ENSP00000432943; ENSG00000158887. [P25189-1]
GeneIDi4359.
KEGGihsa:4359.
UCSCiuc001gaf.4. human. [P25189-1]

Polymorphism databases

DMDMi127721.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Inherited peripheral neuropathies mutation db

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
D10537 mRNA. Translation: BAA01395.1 .
D14720 Genomic DNA. Translation: BAA03540.1 . Different initiation.
L24893 , L24894 Genomic DNA. Translation: AAA20656.1 .
AK313555 mRNA. Translation: BAG36330.1 . Different initiation.
BT006765 mRNA. Translation: AAP35411.1 . Different initiation.
AL592295 Genomic DNA. Translation: CAH70270.1 . Different initiation.
CH471121 Genomic DNA. Translation: EAW52606.1 . Different initiation.
BC006491 mRNA. Translation: AAH06491.1 . Different initiation.
S66705 mRNA. Translation: AAB28708.1 .
U10018 , U10017 Genomic DNA. Translation: AAA18981.1 .
CCDSi CCDS1229.2. [P25189-1 ]
PIRi JH0252.
RefSeqi NP_000521.2. NM_000530.6. [P25189-1 ]
UniGenei Hs.591486.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB