MRPL18

mitochondrial ribosomal protein L18, the group of Large subunit mitochondrial ribosomal proteins|Mitochondrial ribosomal proteins

Basic information

Region (hg38): 6:159789812-159798436

Links

ENSG00000112110 ∙ NCBI:29074 ∙ OMIM:611831 ∙ HGNC:14477 ∙ Uniprot:Q9H0U6 ∙ 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 MRPL18 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MRPL18 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			7	1		8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	7	1	0

Variants in MRPL18

This is a list of pathogenic ClinVar variants found in the MRPL18 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-159790615-T-G		not specified	Uncertain significance (Jun 17, 2024)
6-159791039-G-T		not specified	Uncertain significance (Jan 05, 2022)
6-159791098-G-A		not specified	Uncertain significance (Mar 02, 2023)
6-159791111-G-T		not specified	Uncertain significance (Dec 28, 2022)
6-159791122-C-T		not specified	Uncertain significance (May 24, 2024)
6-159797369-C-T		not specified	Uncertain significance (Nov 09, 2021)
6-159797379-C-G		not specified	Uncertain significance (Apr 29, 2024)
6-159797489-C-G		not specified	Uncertain significance (May 18, 2022)
6-159798056-A-G		not specified	Uncertain significance (Aug 17, 2022)
6-159798091-G-T		not specified	Uncertain significance (Feb 28, 2024)
6-159798098-G-A		not specified	Likely benign (Jun 06, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MRPL18	protein_coding	protein_coding	ENST00000367034	4	8625

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000162	0.696	125727	0	21	125748	0.0000835

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.355	118	108	1.10	0.00000552	1151
Missense in Polyphen		38	37.038	1.026		381
Synonymous	-0.410	45	41.6	1.08	0.00000209	374
Loss of Function	0.892	7	10.1	0.697	6.12e-7	96

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000579	0.0000579
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.000150	0.000149
Middle Eastern	0.000109	0.000109
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Together with thiosulfate sulfurtransferase (TST), acts as a mitochondrial import factor for the cytosolic 5S rRNA. The precursor form shows RNA chaperone activity; is able to fold the 5S rRNA into an import-competent conformation that is recognized by rhodanese (TST). Both the cytoplasmic and mitochondrial forms are able to bind to the helix IV-loop D in the gamma domain of the 5S rRNA. {ECO:0000269|PubMed:21685364}.
• Pathway: Ribosome - Homo sapiens (human);Cellular response to heat stress;HSF1 activation;Attenuation phase;HSF1-dependent transactivation;Regulation of HSF1-mediated heat shock response;Mitochondrial translation initiation;Translation;Cellular responses to stress;Metabolism of proteins;Cellular responses to external stimuli;Mitochondrial translation elongation;Cellular response to heat stress;Mitochondrial translation termination;Mitochondrial translation (Consensus)

Recessive Scores

• pRec: 0.113

Intolerance Scores

• loftool: 0.713
• rvis_EVS: 0.33
• rvis_percentile_EVS: 73.11

Haploinsufficiency Scores

• pHI: 0.0311
• hipred: N
• hipred_score: 0.174
• ghis: 0.513

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.990

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mrpl18

Gene ontology

• Biological process: translation;rRNA import into mitochondrion;mitochondrial translational elongation;mitochondrial translational termination
• Cellular component: extracellular space;mitochondrion;mitochondrial inner membrane;mitochondrial ribosome;mitochondrial large ribosomal subunit
• Molecular function: structural constituent of ribosome;5S rRNA binding