MBP
myelin basic protein
Basic information
Region (hg38): 18:76978827-77133683
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the MBP gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 6 | |||||
| missense | 13 | 14 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 2 | |||||
| Total | 0 | 0 | 13 | 6 | 3 |
Variants in MBP
This is a list of pathogenic ClinVar variants found in the MBP region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 18-76980454-G-A | Likely benign (Jul 03, 2018) | |||
| 18-76980459-T-C | not specified | Uncertain significance (Feb 28, 2023) | ||
| 18-76980465-T-G | Likely benign (Jun 17, 2018) | |||
| 18-76984778-C-T | Likely benign (Jul 04, 2018) | |||
| 18-76984797-G-A | not specified | Uncertain significance (Sep 29, 2022) | ||
| 18-76984834-C-A | not specified | Uncertain significance (Nov 08, 2022) | ||
| 18-76988486-G-A | Likely benign (Jul 04, 2018) | |||
| 18-76989976-C-T | not specified | Uncertain significance (Oct 20, 2023) | ||
| 18-76989980-G-A | Benign (Jul 13, 2018) | |||
| 18-76990033-G-A | not specified | Uncertain significance (Jun 09, 2022) | ||
| 18-76990036-C-T | Benign (Jul 29, 2018) | |||
| 18-77016851-G-A | not specified | Uncertain significance (May 26, 2023) | ||
| 18-77016857-C-T | not specified | Uncertain significance (Jan 29, 2024) | ||
| 18-77016861-T-C | not specified | Uncertain significance (Aug 17, 2022) | ||
| 18-77016901-C-T | Likely benign (Apr 11, 2018) | |||
| 18-77016917-G-A | not specified | Uncertain significance (Aug 16, 2021) | ||
| 18-77016918-G-A | not specified | Uncertain significance (Aug 30, 2021) | ||
| 18-77016918-G-C | not specified | Uncertain significance (Aug 12, 2022) | ||
| 18-77016932-C-T | not specified | Uncertain significance (Jun 16, 2023) | ||
| 18-77016944-A-T | not specified | Uncertain significance (May 13, 2024) | ||
| 18-77016954-C-T | not specified | Uncertain significance (Aug 14, 2023) | ||
| 18-77017017-G-A | Benign (Jul 11, 2018) | |||
| 18-77017165-G-A | Likely benign (Dec 31, 2019) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| MBP | protein_coding | protein_coding | ENST00000397860 | 3 | 154857 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.284 | 0.696 | 125744 | 0 | 4 | 125748 | 0.0000159 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.603 | 109 | 128 | 0.850 | 0.00000803 | 1298 |
| Missense in Polyphen | 51 | 62.763 | 0.81259 | 624 | ||
| Synonymous | -0.00881 | 55 | 54.9 | 1.00 | 0.00000385 | 393 |
| Loss of Function | 1.96 | 2 | 7.98 | 0.251 | 5.23e-7 | 77 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000289 | 0.0000289 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000176 | 0.0000176 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.0000353 | 0.0000327 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: The classic group of MBP isoforms (isoform 4-isoform 14) are with PLP the most abundant protein components of the myelin membrane in the CNS. They have a role in both its formation and stabilization. The smaller isoforms might have an important role in remyelination of denuded axons in multiple sclerosis. The non- classic group of MBP isoforms (isoform 1-isoform 3/Golli-MBPs) may preferentially have a role in the early developing brain long before myelination, maybe as components of transcriptional complexes, and may also be involved in signaling pathways in T- cells and neural cells. Differential splicing events combined with optional post-translational modifications give a wide spectrum of isomers, with each of them potentially having a specialized function. Induces T-cell proliferation. {ECO:0000269|PubMed:8544862}.;
- Disease
- DISEASE: Note=The reduction in the surface charge of citrullinated and/or methylated MBP could result in a weakened attachment to the myelin membrane. This mechanism could be operative in demyelinating diseases such as chronical multiple sclerosis (MS), and fulminating MS (Marburg disease).;
- Pathway
- Neural Crest Differentiation;Glial Cell Differentiation;Spinal Cord Injury;Structural Pathway of Interleukin 1 (IL-1);MECP2 and Associated Rett Syndrome;MAPK Cascade
(Consensus)
Intolerance Scores
- loftool
- 0.0431
- rvis_EVS
- 0.2
- rvis_percentile_EVS
- 67.19
Haploinsufficiency Scores
- pHI
- 0.146
- hipred
- Y
- hipred_score
- 0.671
- ghis
- 0.408
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.750
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Mbp
- Phenotype
- homeostasis/metabolism phenotype; cellular phenotype; growth/size/body region phenotype; immune system phenotype; hearing/vestibular/ear phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); hematopoietic system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); normal phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan);
Gene ontology
- Biological process
- MAPK cascade;immune response;chemical synaptic transmission;central nervous system development;sensory perception of sound;axon ensheathment;response to toxic substance;substantia nigra development;negative regulation of heterotypic cell-cell adhesion;maintenance of permeability of blood-brain barrier;myelination;membrane organization;positive regulation of chemokine (C-C motif) ligand 2 secretion;positive regulation of metalloendopeptidase activity;positive regulation of interleukin-6 secretion
- Cellular component
- nucleus;plasma membrane;cell surface;protein-containing complex;internode region of axon;neuronal cell body;myelin sheath;compact myelin;cell periphery
- Molecular function
- protease binding;protein binding;calmodulin binding;structural constituent of myelin sheath