Human Gene Module / Chromosome 19 / MAST1

MAST1microtubule associated serine/threonine kinase 1

SFARI Gene Score
3
Suggestive Evidence Criteria 3.1
Autism Reports / Total Reports
4 / 5
Rare Variants / Common Variants
20 / 0
Aliases
-
Associated Syndromes
Mega-corpus-callosum syndrome with cerebellar hypo
Chromosome Band
19p13.13
Associated Disorders
-
Relevance to Autism

"A de novo missense variant in the MAST1 gene with a CADD score of 26.9 was identified in a male patient from the Solve-RD resource with the HPO phenoterm ""Autism"" in Laurie et al., 2025. Two de novo loss-of-function variants and seven de novo missense variants (2 with CADD >25) in this gene have been reported in ASD probands from the Autism Sequencing Consortium and the SPARK and MSSNG cohorts (Lim et al., 2017; Zhou et al., 2022; Fu et al., 2022). In a report describing six patients with mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations (MCCCHCM; OMIM 618273), Tripathy et al., 2018 also described two individuals identified via GeneMatcher with de novo MAST1 missense variants and ASD with additional features (speech delay/absent speech, ID, hypotonia, and dysmorphic features) but without significant findings on brain imaging."

Molecular Function

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.

External Links
Gene CardOpen Targets PlatformgnomAD browserPubMed
Human
Entrez GeneOMIMUniProtHumanBaseVariCarta
SFARI Genomic Platforms
GPF browser SFARI genome browser
Reports related to MAST1 (5 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Support Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder Lim ET , et al. (2017) Yes -
2 Support - Ratna Tripathy et al. (2018) No ASD, epilepsy/seizures
3 Support - Zhou X et al. (2022) Yes -
4 Support - Fu JM et al. (2022) Yes -
5 Primary - Steven Laurie et al. (2025) Yes -
Rare Variants   (20)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
c.74G>A p.Arg25His missense_variant De novo - - 35982160 Fu JM et al. (2022)
c.1217A>G p.Asn406Ser missense_variant De novo - - 35982160 Fu JM et al. (2022)
c.3241T>C p.Ser1081Pro missense_variant De novo - - 28714951 Lim ET , et al. (2017)
c.2139+1G>A p.? splice_site_variant De novo - Simplex 35982159 Zhou X et al. (2022)
c.2527C>T p.Gln843Ter stop_gained De novo - Multiplex 35982159 Zhou X et al. (2022)
c.278C>T p.Ser93Leu missense_variant De novo - - 30449657 Ratna Tripathy et al. (2018)
c.293G>T p.Gly98Val missense_variant De novo - - 30449657 Ratna Tripathy et al. (2018)
c.858G>A p.Ala286= synonymous_variant De novo - Unknown 35982159 Zhou X et al. (2022)
c.3264-5C>T p.? splice_region_variant De novo - Simplex 35982159 Zhou X et al. (2022)
c.1576C>T p.Leu526Phe missense_variant De novo - Simplex 35982159 Zhou X et al. (2022)
c.2864G>A p.Arg955Gln missense_variant De novo - Simplex 35982159 Zhou X et al. (2022)
c.1549G>A p.Gly517Ser missense_variant De novo - - 30449657 Ratna Tripathy et al. (2018)
c.2743G>A p.Ala915Thr missense_variant De novo - - 30449657 Ratna Tripathy et al. (2018)
c.709G>A p.Asp237Asn missense_variant De novo - Multiplex 35982159 Zhou X et al. (2022)
c.3530C>G p.Pro1177Arg missense_variant De novo - - 30449657 Ratna Tripathy et al. (2018)
c.4306A>G p.Ile1436Val missense_variant De novo - Multiplex 35982159 Zhou X et al. (2022)
c.583_585del p.Glu195del inframe_deletion De novo - - 30449657 Ratna Tripathy et al. (2018)
c.829_831del p.Lys277del inframe_deletion De novo - - 30449657 Ratna Tripathy et al. (2018)
c.832_834del p.Leu279del inframe_deletion De novo - - 30449657 Ratna Tripathy et al. (2018)
c.1762T>G p.Phe588Val missense_variant De novo - Simplex 39825153 Steven Laurie et al. (2025)
Common Variants  

No common variants reported.

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