MB
Basic information
Region (hg38): 22:35606764-35637951
Links
Phenotypes
GenCC
Source:
- myopathy, sarcoplasmic body (Strong), mode of inheritance: AD
Clinical Genomic Database
Source:
| Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
|---|---|---|---|---|---|
| Myopathy, sarcoplasmic body | AD | Cardiovascular | The condition may involve heart failure, and awareness may enable early diagnosis and management of cardiac sequelae | Cardiovascular; Musculoskeletal | 30918256; 35527200 |
ClinVar
This is a list of variants' phenotypes submitted to
- Myopathy, sarcoplasmic body (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the MB 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 | 9 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 1 | 0 | 8 | 0 | 0 |
Variants in MB
This is a list of pathogenic ClinVar variants found in the MB region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 22-35607337-T-C | not specified | Uncertain significance (Dec 18, 2023) | ||
| 22-35607344-G-A | not specified | Uncertain significance (Dec 06, 2022) | ||
| 22-35607355-A-T | not specified | Uncertain significance (Oct 05, 2023) | ||
| 22-35607367-A-T | not specified | Uncertain significance (Jan 23, 2024) | ||
| 22-35607398-C-T | not specified | Uncertain significance (Jun 26, 2023) | ||
| 22-35607408-G-T | not specified | Uncertain significance (Nov 21, 2022) | ||
| 22-35610910-G-A | Myopathy, sarcoplasmic body | Pathogenic (Jan 23, 2019) | ||
| 22-35610997-C-T | not specified | Uncertain significance (Feb 16, 2023) | ||
| 22-35617214-C-G | not specified | Uncertain significance (Feb 07, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| MB | protein_coding | protein_coding | ENST00000397326 | 3 | 31188 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.0306 | 0.823 | 125740 | 0 | 7 | 125747 | 0.0000278 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.510 | 77 | 90.7 | 0.849 | 0.00000490 | 1022 |
| Missense in Polyphen | 24 | 30.933 | 0.77587 | 344 | ||
| Synonymous | -0.635 | 44 | 39.0 | 1.13 | 0.00000239 | 287 |
| Loss of Function | 1.13 | 3 | 5.98 | 0.502 | 2.52e-7 | 74 |
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) | 0.0000352 | 0.0000352 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.0000980 | 0.0000980 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Serves as a reserve supply of oxygen and facilitates the movement of oxygen within muscles.;
- Pathway
- Effects of Nitric Oxide;Transport of small molecules;Intracellular oxygen transport
(Consensus)
Recessive Scores
- pRec
- 0.612
Intolerance Scores
- loftool
- 0.206
- rvis_EVS
- -0.27
- rvis_percentile_EVS
- 33.97
Haploinsufficiency Scores
- pHI
- 0.158
- hipred
- N
- hipred_score
- 0.219
- ghis
- 0.601
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.837
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Mb
- Phenotype
- muscle phenotype; homeostasis/metabolism phenotype; growth/size/body region phenotype; embryo phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system 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);
Zebrafish Information Network
- Gene name
- mb
- Affected structure
- dorsal longitudinal anastomotic vessel
- Phenotype tag
- abnormal
- Phenotype quality
- aplastic
Gene ontology
- Biological process
- response to hypoxia;heart development;response to hormone;oxygen transport;slow-twitch skeletal muscle fiber contraction;response to hydrogen peroxide;enucleate erythrocyte differentiation;brown fat cell differentiation
- Cellular component
- cytosol;extracellular exosome
- Molecular function
- oxygen carrier activity;oxygen binding;heme binding;metal ion binding