MAST3 Chromosome 19
Microtubule associated serine/threonine kinase 3
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What This Gene Does
Predicted to enable protein serine/threonine kinase activity. Predicted to be involved in cytoskeleton organization and intracellular signal transduction. Predicted to be located in cytoplasm. Implicated in developmental and epileptic encephalopathy 108. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"PDZ domain containing|Microtubule associated serine/threonine kinase family"
Locus Type
gene with protein product
Location
19p13.11
Ensembl
ENSG00000099308
Associated Conditions (4)
MAST3-related disorder
Developmental and epileptic encephalopathy 108
Pervasive developmental disorder
Inborn genetic diseases
Key Variants
RS1478088223
Conflicting classifications of pathogenicity
MAST3-related disorder, Developmental and epileptic encephalopathy 108, Pervasive developmental disorder
Health Risk
RS2513193892
Likely pathogenic
Developmental and epileptic encephalopathy 108, Inborn genetic diseases, Developmental and epileptic encephalopathy 108
Health Risk
RS1227043449
Pathogenic
Developmental and epileptic encephalopathy 108, Developmental and epileptic encephalopathy 108
Health Risk
RS2041698726
Pathogenic
Developmental and epileptic encephalopathy 108, Developmental and epileptic encephalopathy 108
Health Risk
RS2513188826
Pathogenic
Developmental and epileptic encephalopathy 108, Developmental and epileptic encephalopathy 108
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1478088223 | Health Risk | Conflicting classifications of pathogenicity | MAST3-related disorder, Developmental and epileptic encephalopathy 108, Pervasive developmental disorder |
| RS2513193892 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy 108, Inborn genetic diseases, Developmental and epileptic encephalopathy 108 |
| RS1227043449 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 108, Developmental and epileptic encephalopathy 108 |
| RS2041698726 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 108, Developmental and epileptic encephalopathy 108 |
| RS2513188826 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 108, Developmental and epileptic encephalopathy 108 |