MYO1G

myosin IG, the group of Myosin heavy chains, class I|Minor histocompatibility antigens

Basic information

Region (hg38): 7:44962662-44979088

Links

ENSG00000136286 ∙ NCBI:64005 ∙ OMIM:600642 ∙ HGNC:13880 ∙ Uniprot:B0I1T2 ∙ 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 MYO1G gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYO1G 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			59			59
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	59	1	0

Variants in MYO1G

This is a list of pathogenic ClinVar variants found in the MYO1G region.

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

Position	Type	Phenotype	Significance	ClinVar
7-44962749-G-C		not specified	Uncertain significance (Mar 31, 2024)
7-44962814-C-G		not specified	Uncertain significance (Nov 21, 2023)
7-44962973-T-C		not specified	Uncertain significance (May 05, 2023)
7-44962983-C-T		not specified	Uncertain significance (Dec 21, 2022)
7-44963052-C-T		not specified	Uncertain significance (Nov 21, 2022)
7-44963070-G-A		not specified	Uncertain significance (May 13, 2022)
7-44963109-C-T		not specified	Uncertain significance (Nov 17, 2023)
7-44964114-G-T		not specified	Uncertain significance (Feb 16, 2023)
7-44964140-C-T		not specified	Uncertain significance (Jun 11, 2021)
7-44964426-G-A		not specified	Uncertain significance (May 17, 2023)
7-44964961-C-T		not specified	Uncertain significance (Dec 15, 2022)
7-44964971-C-T		not specified	Uncertain significance (Feb 21, 2024)
7-44964994-C-T		not specified	Uncertain significance (Oct 26, 2022)
7-44965650-C-T		not specified	Uncertain significance (Mar 01, 2023)
7-44965682-G-A		not specified	Uncertain significance (May 10, 2022)
7-44965714-G-A		not specified	Likely benign (Jan 30, 2024)
7-44965745-C-T		not specified	Uncertain significance (Jan 26, 2022)
7-44965769-G-A		not specified	Uncertain significance (Apr 01, 2024)
7-44965782-G-A		not specified	Uncertain significance (Oct 29, 2021)
7-44965803-T-C		not specified	Uncertain significance (Aug 09, 2021)
7-44965827-G-A		not specified	Uncertain significance (May 27, 2022)
7-44965841-G-A		not specified	Uncertain significance (Aug 28, 2021)
7-44966195-C-T		not specified	Uncertain significance (May 27, 2022)
7-44966198-G-T			Likely benign (Oct 01, 2024)
7-44966219-C-T		not specified	Uncertain significance (Oct 12, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MYO1G	protein_coding	protein_coding	ENST00000258787	22	16437

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.36e-10	1.00	125688	0	60	125748	0.000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.86	511	644	0.794	0.0000431	6575
Missense in Polyphen		239	319.43	0.7482		3368
Synonymous	1.86	215	253	0.851	0.0000158	2047
Loss of Function	3.67	25	54.2	0.462	0.00000319	547

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000883	0.000880
Ashkenazi Jewish	0.00	0.00
East Asian	0.000163	0.000163
Finnish	0.0000529	0.0000462
European (Non-Finnish)	0.000283	0.000281
Middle Eastern	0.000163	0.000163
South Asian	0.000163	0.000163
Other	0.000165	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Unconventional myosin required during immune response for detection of rare antigen-presenting cells by regulating T- cell migration. Unconventional myosins are actin-based motor molecules with ATPase activity and serve in intracellular movements. Acts as a regulator of T-cell migration by generating membrane tension, enforcing cell-intrinsic meandering search, thereby enhancing detection of rare antigens during lymph-node surveillance, enabling pathogen eradication. Also required in B- cells, where it regulates different membrane/cytoskeleton- dependent processes. Involved in Fc-gamma receptor (Fc-gamma-R) phagocytosis. {ECO:0000250|UniProtKB:Q5SUA5}.

Recessive Scores

• pRec: 0.122

Intolerance Scores

• loftool: 0.144
• rvis_EVS: -0.83
• rvis_percentile_EVS: 11.51

Haploinsufficiency Scores

• pHI: 0.151
• hipred: Y
• hipred_score: 0.563
• ghis: 0.563

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.756

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Myo1g
• Phenotype: hematopoietic system phenotype; immune system phenotype

Gene ontology

• Biological process: T cell mediated immunity;exocytosis;cell-substrate adhesion;Fc-gamma receptor signaling pathway involved in phagocytosis;cell gliding;T cell migration;T cell meandering migration
• Cellular component: phagocytic cup;plasma membrane;microvillus;membrane;myosin complex;lamellipodium;filopodium;leading edge membrane;extracellular exosome
• Molecular function: motor activity;actin binding;calmodulin binding;ATP binding;phosphatidylinositol-4,5-bisphosphate binding;phosphatidylinositol-3,4,5-trisphosphate binding;phosphatidylinositol-3,4-bisphosphate binding