MAST1 Chromosome 19
Microtubule associated serine/threonine kinase 1
Upload your DNA to see your personal genotypes for variants in MAST1.
What This Gene Does
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]
Gene Info
Gene Group
"PDZ domain containing|MicroRNA protein coding host genes|Microtubule associated serine/threonine kinase family"
Locus Type
gene with protein product
Location
19p13.13
Ensembl
ENSG00000105613
Associated Conditions (3)
Inborn genetic diseases
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
MAST1-related disorder
Key Variants
RS1323140691
Conflicting classifications of pathogenicity
Health Risk
RS147923550
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1568408280
Conflicting classifications of pathogenicity
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, Inborn genetic diseases, Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
Health Risk
RS369276612
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS544990322
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS754684491
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS764734542
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS772683218
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS778091278
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS778491124
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS878853165
Conflicting classifications of pathogenicity
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
Health Risk
RS1568409494
Likely pathogenic
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
Health Risk
All Variants (23)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1323140691 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS147923550 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1568408280 | Health Risk | Conflicting classifications of pathogenicity | Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, Inborn genetic diseases, Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations |
| RS369276612 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases, Inborn genetic diseases |
| RS544990322 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS754684491 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS764734542 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS772683218 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS778091278 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS778491124 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS878853165 | Health Risk | Conflicting classifications of pathogenicity | Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations |
| RS1568409494 | Health Risk | Likely pathogenic | Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations |
| RS2145907078 | Health Risk | Likely pathogenic | Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations |
| RS2512523412 | Health Risk | Likely pathogenic | Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations |
| RS2512531898 | Health Risk | Likely pathogenic | Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations |
| RS2512536694 | Health Risk | Likely pathogenic | Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations |
| RS2512544777 | Health Risk | Likely pathogenic | — |
| RS1568409502 | Health Risk | Pathogenic | Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations |
| RS1568413207 | Health Risk | Pathogenic | Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, MAST1-related disorder, Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations |
| RS1969917438 | Health Risk | Pathogenic | Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations |
| RS1969966399 | Health Risk | Pathogenic | — |
| RS2145907069 | Health Risk | Pathogenic | Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations |
| RS2512526900 | Health Risk | Pathogenic/Likely pathogenic | Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations |