MYO19

myosin XIX, the group of Myosin heavy chains, class XIX

Basic information

Region (hg38): 17:36495635-36543435

Previous symbols: [ "MYOHD1" ]

Links

ENSG00000278259 ∙ NCBI:80179 ∙ OMIM:617379 ∙ HGNC:26234 ∙ Uniprot:Q96H55 ∙ 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 MYO19 gene.

• Inborn genetic diseases (49 variants)
• not provided (3 variants)
• not specified (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYO19 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	2	3
missense			48	3		51
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	48	4	2

Variants in MYO19

This is a list of pathogenic ClinVar variants found in the MYO19 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-36496255-C-T		not specified	Uncertain significance (Jan 23, 2024)
17-36496283-C-T		not specified	Uncertain significance (Dec 06, 2021)
17-36496302-T-C			Likely benign (Sep 01, 2022)
17-36496340-G-A		not specified	Uncertain significance (May 03, 2023)
17-36496369-C-T		not specified	Uncertain significance (Dec 08, 2023)
17-36497589-C-CTTT		ZNHIT3-related disorder	Likely benign (Sep 25, 2020)
17-36497725-C-T		ZNHIT3-related disorder	Benign (Nov 18, 2019)
17-36498288-G-A		not specified	Uncertain significance (Oct 03, 2023)
17-36498310-C-T		not specified	Uncertain significance (Aug 16, 2021)
17-36498327-C-G		not specified	Uncertain significance (Oct 17, 2023)
17-36498336-C-T		not specified	Uncertain significance (Mar 29, 2023)
17-36498355-G-A		not specified	Uncertain significance (Jul 14, 2022)
17-36498430-G-T		not specified	Uncertain significance (Oct 26, 2021)
17-36498471-G-A		not specified	Uncertain significance (Dec 17, 2021)
17-36498533-T-C			Benign (Apr 16, 2018)
17-36498535-T-C		not specified	Uncertain significance (May 26, 2023)
17-36498547-A-G		not specified	Uncertain significance (Jun 29, 2022)
17-36498553-T-C		not specified	Uncertain significance (Feb 13, 2024)
17-36499112-G-C		not specified	Uncertain significance (Dec 03, 2021)
17-36499115-G-A		not specified	Uncertain significance (Jun 22, 2021)
17-36500863-G-A		not specified	Uncertain significance (Feb 28, 2023)
17-36500884-G-A		not specified	Uncertain significance (Jul 05, 2023)
17-36500899-C-T		not specified	Uncertain significance (Dec 28, 2023)
17-36500910-C-T		not specified	Uncertain significance (Jan 24, 2024)
17-36500914-C-G		not specified	Uncertain significance (Nov 17, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Actin-based motor molecule with ATPase activity that localizes to the mitochondrion outer membrane (PubMed:19932026, PubMed:23568824, PubMed:25447992). Motor protein that moves towards the plus-end of actin filaments (By similarity). Required for mitochondrial inheritance during mitosis (PubMed:25447992). May be involved in mitochondrial transport or positioning (PubMed:23568824). {ECO:0000250|UniProtKB:Q5SV80, ECO:0000269|PubMed:19932026, ECO:0000269|PubMed:25447992, ECO:0000305|PubMed:23568824}.

Intolerance Scores

• rvis_EVS: 0.52
• rvis_percentile_EVS: 80.4

Haploinsufficiency Scores

• pHI: 0.234
• hipred: N
• hipred_score: 0.204

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.421

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Myo19

Gene ontology

• Biological process: regulation of cytokinesis;mitochondrion migration along actin filament;regulation of mitochondrial fission
• Cellular component: mitochondrion;mitochondrial outer membrane;cytosol;myosin complex
• Molecular function: actin binding;ATP binding;ATPase activity;myosin light chain binding;plus-end directed microfilament motor activity