MYOZ3

myozenin 3, the group of Myozenins

Basic information

Region (hg38): 5:150660882-150679368

Links

ENSG00000164591 ∙ NCBI:91977 ∙ OMIM:610735 ∙ HGNC:18565 ∙ Uniprot:Q8TDC0 ∙ 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 MYOZ3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYOZ3 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						0
missense			11	2		13
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	11	2	0

Variants in MYOZ3

This is a list of pathogenic ClinVar variants found in the MYOZ3 region.

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

Position	Type	Phenotype	Significance	ClinVar
5-150670516-G-A		not specified	Uncertain significance (Feb 05, 2024)
5-150670529-T-C		not specified	Uncertain significance (Oct 06, 2021)
5-150671801-T-G		not specified	Uncertain significance (Nov 29, 2023)
5-150671876-G-A		not specified	Likely benign (Jun 21, 2023)
5-150671881-G-A		not specified	Uncertain significance (Jun 27, 2022)
5-150671885-C-T		not specified	Uncertain significance (May 12, 2024)
5-150671893-A-G		not specified	Uncertain significance (Mar 11, 2022)
5-150671902-G-A		not specified	Uncertain significance (Apr 01, 2024)
5-150672369-C-A		not specified	Uncertain significance (Dec 21, 2023)
5-150672460-G-T		not specified	Uncertain significance (Feb 28, 2023)
5-150672482-C-A		not specified	Uncertain significance (Sep 29, 2022)
5-150672499-A-G		not specified	Uncertain significance (Oct 26, 2022)
5-150676712-C-T		not specified	Uncertain significance (Oct 10, 2023)
5-150676713-G-A		not specified	Likely benign (May 08, 2024)
5-150676744-A-G		not specified	Likely benign (Feb 15, 2023)
5-150676831-G-A		not specified	Uncertain significance (Jun 22, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MYOZ3	protein_coding	protein_coding	ENST00000297130	6	18492

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000279	0.556	125611	1	134	125746	0.000537

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.260	141	150	0.940	0.00000803	1598
Missense in Polyphen		49	56.104	0.87338		658
Synonymous	-0.163	65	63.4	1.03	0.00000327	519
Loss of Function	0.679	8	10.4	0.772	4.46e-7	126

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000394	0.000388
Ashkenazi Jewish	0.00	0.00
East Asian	0.000272	0.000272
Finnish	0.000529	0.000508
European (Non-Finnish)	0.000906	0.000844
Middle Eastern	0.000272	0.000272
South Asian	0.000197	0.000196
Other	0.00117	0.00114

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Myozenins may serve as intracellular binding proteins involved in linking Z line proteins such as alpha-actinin, gamma- filamin, TCAP/telethonin, LDB3/ZASP and localizing calcineurin signaling to the sarcomere. Plays an important role in the modulation of calcineurin signaling. May play a role in myofibrillogenesis.

Recessive Scores

• pRec: 0.116

Intolerance Scores

• loftool: 0.787
• rvis_EVS: 0.39
• rvis_percentile_EVS: 76.05

Haploinsufficiency Scores

• pHI: 0.0955
• hipred: N
• hipred_score: 0.247
• ghis: 0.449

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.773

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Myoz3

Gene ontology

• Cellular component: actin cytoskeleton;Z disc
• Molecular function: actin binding;protein binding;telethonin binding;FATZ binding