MAMSTR

MEF2 activating motif and SAP domain containing transcriptional regulator, the group of Myocardin family

Basic information

Region (hg38): 19:48712724-48719725

Links

ENSG00000176909 ∙ NCBI:284358 ∙ OMIM:610349 ∙ HGNC:26689 ∙ Uniprot:Q6ZN01 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MAMSTR gene.

• Inborn genetic diseases (25 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MAMSTR 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				1		1
missense			26			26
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	26	1	0

Variants in MAMSTR

This is a list of pathogenic ClinVar variants found in the MAMSTR region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
19-48713344-G-T		not specified	Uncertain significance (Mar 21, 2023)
19-48713346-G-A		not specified	Uncertain significance (Jul 25, 2023)
19-48713729-C-G		not specified	Uncertain significance (Nov 21, 2022)
19-48713735-C-G		not specified	Uncertain significance (Jan 04, 2022)
19-48713754-C-T		not specified	Uncertain significance (Feb 28, 2023)
19-48713924-G-A		not specified	Uncertain significance (Apr 27, 2022)
19-48713926-G-A			Likely benign (Apr 01, 2023)
19-48713939-G-A		not specified	Uncertain significance (May 27, 2022)
19-48713960-G-A		not specified	Uncertain significance (May 26, 2023)
19-48713994-T-C		not specified	Uncertain significance (Jun 22, 2021)
19-48714367-G-A		not specified	Uncertain significance (Jul 25, 2023)
19-48714376-C-T		not specified	Uncertain significance (Jul 08, 2022)
19-48714385-G-T		not specified	Uncertain significance (Nov 17, 2022)
19-48714401-G-T		not specified	Uncertain significance (Dec 08, 2023)
19-48714427-G-A		not specified	Uncertain significance (Sep 26, 2023)
19-48714448-G-C		not specified	Uncertain significance (Apr 19, 2023)
19-48714498-C-A		not specified	Uncertain significance (Apr 07, 2023)
19-48714529-C-A		not specified	Uncertain significance (May 31, 2023)
19-48714547-C-G		not specified	Uncertain significance (Sep 06, 2022)
19-48714548-G-C		not specified	Uncertain significance (Oct 12, 2021)
19-48714553-T-G		not specified	Uncertain significance (Feb 08, 2023)
19-48714849-G-C		not specified	Uncertain significance (Nov 18, 2022)
19-48714853-G-A			Uncertain significance (Feb 01, 2018)
19-48714898-A-G		not specified	Uncertain significance (Nov 30, 2021)
19-48715289-C-T		not specified	Uncertain significance (Nov 20, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MAMSTR	protein_coding	protein_coding	ENST00000318083	9	6980

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00549	0.973	125722	0	24	125746	0.0000954

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.573	171	193	0.884	0.00000982	2545
Missense in Polyphen		3	7.4643	0.40191		97
Synonymous	0.334	83	87.0	0.954	0.00000469	935
Loss of Function	2.01	6	14.2	0.424	6.57e-7	196

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000376	0.000358
Ashkenazi Jewish	0.000440	0.000397
East Asian	0.0000544	0.0000544
Finnish	0.0000466	0.0000462
European (Non-Finnish)	0.0000546	0.0000527
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Transcriptional coactivator. Stimulates the transcriptional activity of MEF2C. Stimulates MYOD1 activity in part via MEF2, resulting in an enhancement of skeletal muscle differentiation (By similarity). {ECO:0000250}.

Intolerance Scores

• loftool: 0.219
• rvis_EVS: -0.23
• rvis_percentile_EVS: 37.11

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.144
• ghis: 0.444

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.145

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Mamstr
• Phenotype: muscle phenotype; cellular phenotype; growth/size/body region phenotype; skeleton 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); hematopoietic system phenotype

Gene ontology

• Biological process: positive regulation of myotube differentiation;positive regulation of transcription by RNA polymerase II
• Cellular component: nucleus
• Molecular function: RNA polymerase II transcription factor binding