MOBP

myelin associated oligodendrocyte basic protein

Basic information

Region (hg38): 3:39467197-39529479

Links

ENSG00000168314 ∙ NCBI:4336 ∙ OMIM:600948 ∙ HGNC:7189 ∙ Uniprot:Q13875 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MOBP gene.

• MOBP-related condition (4 variants)
• Amyotrophic lateral sclerosis (1 variants)
• Inborn genetic diseases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MOBP 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						0
missense			5			5
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region			1			1
non coding						0
Total	0	0	5	0	0

Variants in MOBP

This is a list of pathogenic ClinVar variants found in the MOBP region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
3-39502135-C-A		not specified	Uncertain significance (Nov 08, 2022)
3-39502161-C-T		not specified	Uncertain significance (Jan 03, 2022)
3-39502280-G-C		MOBP-related disorder	Uncertain significance (Jul 17, 2023)
3-39502508-G-A		MOBP-related disorder	Likely benign (Sep 08, 2021)
3-39502578-C-T		MOBP-related disorder	Uncertain significance (Dec 22, 2022)
3-39502588-C-T		MOBP-related disorder	Uncertain significance (Sep 06, 2023)
3-39502614-AAGCCACGGTCCCCTCCGAGGTCTGAGCGTC-A		MOBP-related disorder	Likely benign (Jul 19, 2023)
3-39502689-C-T		MOBP-related disorder	Uncertain significance (Jul 28, 2023)
3-39502842-C-A		Amyotrophic lateral sclerosis	Uncertain significance (Sep 09, 2020)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MOBP	protein_coding	protein_coding	ENST00000383754	2	62282

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.546	0.404	125746	0	1	125747	0.00000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.973	26	44.2	0.588	0.00000230	544
Missense in Polyphen		12	26.096	0.45984		298
Synonymous	-0.116	18	17.4	1.04	0.00000106	123
Loss of Function	1.42	0	2.36	0.00	9.80e-8	34

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000879	0.00000879
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in compacting or stabilizing the myelin sheath, possibly by binding the negatively charged acidic phospholipids of the cytoplasmic membrane. {ECO:0000250}.

Recessive Scores

• pRec: 0.129

Intolerance Scores

• loftool: 0.219
• rvis_EVS: 0.04
• rvis_percentile_EVS: 56.25

Haploinsufficiency Scores

• pHI: 0.0997
• hipred: N
• hipred_score: 0.208
• ghis: 0.488

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.133

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Mobp
• 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)

Gene ontology

• Biological process: nervous system development
• Cellular component: mitochondrion;cortical actin cytoskeleton;myelin sheath;perinuclear region of cytoplasm
• Molecular function: actin binding;protein binding;myosin binding;Rab GTPase binding;structural constituent of myelin sheath