MALL

mal, T cell differentiation protein like, the group of MARVEL domain containing|MicroRNA protein coding host genes

Basic information

Region (hg38): 2:110083870-110116022

Links

ENSG00000144063 ∙ NCBI:7851 ∙ OMIM:602022 ∙ HGNC:6818 ∙ Uniprot:Q13021 ∙ 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 MALL gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MALL 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			2	1		3
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	2	1	0

Variants in MALL

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

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

Position	Type	Phenotype	Significance	ClinVar
2-110091641-A-G		not specified	Likely benign (Aug 20, 2024)
2-110115780-C-A		not specified	Uncertain significance (May 02, 2024)
2-110115789-C-G		not specified	Uncertain significance (Dec 13, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MALL	protein_coding	protein_coding	ENST00000272462	4	32697

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.232	0.655	123876	0	7	123883	0.0000283

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.06	14	30.5	0.458	0.00000139	946
Missense in Polyphen		2	11.915	0.16785		406
Synonymous	1.20	8	13.6	0.587	7.95e-7	300
Loss of Function	1.14	1	3.19	0.314	1.35e-7	71

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.000234	0.000234
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.184

Haploinsufficiency Scores

• pHI: 0.145
• hipred: N
• hipred_score: 0.339
• ghis: 0.418

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.719

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mall

Gene ontology

• Biological process: myelination;cholesterol homeostasis
• Cellular component: Golgi membrane;plasma membrane;integral component of membrane;clathrin-coated vesicle;cytoplasmic vesicle;membrane raft
• Molecular function: protein binding;structural constituent of myelin sheath