MRPS24

mitochondrial ribosomal protein S24, the group of Small subunit mitochondrial ribosomal proteins|Mitochondrial ribosomal proteins

Basic information

Region (hg38): 7:43866558-43869893

Links

ENSG00000062582 ∙ NCBI:64951 ∙ OMIM:611986 ∙ HGNC:14510 ∙ Uniprot:Q96EL2 ∙ 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 MRPS24 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MRPS24 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			2			2
missense			12			12
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	14	0	0

Variants in MRPS24

This is a list of pathogenic ClinVar variants found in the MRPS24 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-43866722-T-C		not specified	Uncertain significance (Mar 11, 2022)
7-43866748-C-T		not specified	Uncertain significance (Nov 08, 2022)
7-43866749-G-C		not specified	Uncertain significance (Jul 02, 2024)
7-43866758-A-G		not specified	Uncertain significance (Oct 10, 2023)
7-43866766-A-G		not specified	Uncertain significance (Dec 27, 2023)
7-43866829-C-T		not specified	Uncertain significance (Jan 29, 2025)
7-43866839-C-T		not specified	Uncertain significance (Apr 01, 2024)
7-43866917-T-A		not specified	Uncertain significance (Dec 22, 2023)
7-43866923-T-C		not specified	Uncertain significance (Jun 11, 2024)
7-43866925-C-T		not specified	Uncertain significance (Jan 28, 2025)
7-43866926-G-A		not specified	Uncertain significance (Sep 13, 2023)
7-43866943-A-T		not specified	Uncertain significance (Apr 06, 2024)
7-43866965-C-T		not specified	Uncertain significance (Mar 31, 2023)
7-43868989-C-T		not specified	Uncertain significance (Feb 22, 2025)
7-43869045-C-T		not specified	Uncertain significance (Jan 19, 2024)
7-43869351-G-A		not specified	Uncertain significance (Oct 21, 2024)
7-43869371-C-T		not specified	Uncertain significance (Jan 03, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MRPS24	protein_coding	protein_coding	ENST00000317534	4	3336

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00392	0.866	125738	0	10	125748	0.0000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0866	97	99.4	0.976	0.00000532	1048
Missense in Polyphen		36	30.584	1.1771		352
Synonymous	0.448	39	42.7	0.913	0.00000214	347
Loss of Function	1.28	5	9.17	0.545	4.84e-7	90

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000905	0.0000904
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.0000440	0.0000439
Middle Eastern	0.000109	0.000109
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Pathway: miR-targeted genes in epithelium - TarBase;miR-targeted genes in lymphocytes - TarBase;miR-targeted genes in muscle cell - TarBase;Mitochondrial translation initiation;Translation;Metabolism of proteins;Mitochondrial translation elongation;Mitochondrial translation termination;Mitochondrial translation (Consensus)

Recessive Scores

• pRec: 0.0826

Intolerance Scores

• loftool: 0.674
• rvis_EVS: 0.57
• rvis_percentile_EVS: 81.89

Haploinsufficiency Scores

• pHI: 0.0709
• hipred: N
• hipred_score: 0.197
• ghis: 0.509

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.600

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mrps24

Gene ontology

• Biological process: biological_process;mitochondrial translation;mitochondrial translational elongation;mitochondrial translational termination
• Cellular component: mitochondrial inner membrane;mitochondrial small ribosomal subunit
• Molecular function: RNA binding;structural constituent of ribosome