MAST1
protein-codingmicrotubule associated serine/threonine kinase 1, the group of PDZ domain containing|AGC family kinases|MicroRNA protein coding host genes
Gene summary
This gene is a member of the microtubule-associated serine/threonine kinase (MAST) family. The protein encoded by this gene has an N-terminal serine/threonine kinase domain followed by a postsynaptic density protein-95/discs large/zona occludens-1 (PDZ) domain. In mouse and rat, the orthologous protein associates with the cytoskeleton and can bind both beta-2-syntrophin and neuronal nitric oxide synthase (nNOS) through its PDZ domain. In mouse and rat, this protein also co-localizes with dystrophin- and utrophin-associated protein complexes (DAPC/UAPC) in the vascular endothelium of the central nervous system. [provided by RefSeq, May 2017]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~41.0 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
Inheritance Pattern: AD
Disease ID:MONDO:0032648
Submitter: Labcorp Genetics (formerly Invitae)
Inheritance Pattern: AD
Disease ID:MONDO:0032648
Submitter: Ambry Genetics
Inheritance Pattern: AD
Disease ID:MONDO:0032648
Submitter: G2P
Inheritance Pattern: AD
Disease ID:MONDO:0032648
Submitter: PanelApp Australia
Clinical Genomic Database (CGD)
Manifestation: Neurologic
Intervention: General
Rationale: Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to MAST1 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_014975.3. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 5 | 156 | 13 | 174 | ||
| missense | 3 | 11 | 383 | 47 | 8 | 452 |
| nonsense | 1 | 6 | 7 | |||
| start loss | 1 | 1 | ||||
| frameshift | 12 | 1 | 13 | |||
| splice donor/acceptor (+/-2bp) | 6 | 6 | ||||
| Total | 4 | 11 | 413 | 204 | 21 | 653 |
Highest pathogenic variant AF is 0.000001368092
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_055790.1 | 26 | MANE Select | |
| Ensembl | ENSP00000251472.3 | 26 | MANE Select | |
| Ensembl | ENSP00000465187.1 | 3 | Standard | |
| Ensembl | ENSP00000466470.1 | 13 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- protein phosphorylation
- cytoskeleton organization
- peptidyl-serine phosphorylation
- intracellular signal transduction
Molecular Function
- magnesium ion binding
- protein serine/threonine kinase activity
- protein binding
- ATP binding
Cellular Component
- cytoplasm
- cytoskeleton
- plasma membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000251472
- Coding exons
- 26
- Length
- 41001
- Individuals with no LoFs
- 125731
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 17
- Defined
- 125748
- p
- 0.0000676
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 5.77 | 514 | 1.04e+3 | 0.496 | 0.0000705 | 9968 |
| Missense (PolyPhen) | 148 | 458.01 | 0.32314 | 4279 | ||
| Synonymous | 3.03 | 383 | 466 | 0.822 | 0.0000341 | 3345 |
| Loss of Function | 6.98 | 5 | 66.3 | 0.0754 | 0.00000349 | 729 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.000062 | 0.000062 | rare |
| Latino/Admixed American | 0.000029 | 0.000029 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.00016 | 0.00016 | rare |
| Finnish | 0.000095 | 0.000092 | rare |
| European (Non-Finnish) | 0.000090 | 0.000088 | rare |
| South Asian | 0 | 0.0 | absent |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Appears to link the dystrophin/utrophin network with microtubule filaments via the syntrophins. Phosphorylation of DMD or UTRN may modulate their affinities for associated proteins (By similarity). {ECO:0000250|UniProtKB:Q9R1L5}.;
Recessive Scores
- pRec
- 0.110
Intolerance Scores
- LoFtool
- 0.120
- RVIS EVS
- -1.91
- RVIS percentile EVS
- 1.94
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- S
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.987
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |