MRPS18A

mitochondrial ribosomal protein S18A, the group of Small subunit mitochondrial ribosomal proteins|Mitochondrial ribosomal proteins

Basic information

Region (hg38): 6:43671202-43687791

Links

ENSG00000096080 ∙ NCBI:55168 ∙ OMIM:611981 ∙ HGNC:14515 ∙ Uniprot:Q9NVS2 ∙ 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 MRPS18A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MRPS18A 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			21	1		22
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	21	1	0

Variants in MRPS18A

This is a list of pathogenic ClinVar variants found in the MRPS18A region.

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

Position	Type	Phenotype	Significance	ClinVar
6-43671791-A-G		not specified	Uncertain significance (Jan 24, 2023)
6-43671811-A-G		not specified	Uncertain significance (Jan 31, 2022)
6-43671827-C-T		not specified	Uncertain significance (Jan 26, 2022)
6-43671833-T-C		not specified	Uncertain significance (Jun 29, 2022)
6-43671835-C-A		not specified	Uncertain significance (Nov 13, 2024)
6-43671836-G-C		not specified	Uncertain significance (Nov 17, 2023)
6-43671848-A-G		not specified	Uncertain significance (Feb 28, 2023)
6-43671851-G-C		not specified	Uncertain significance (Mar 07, 2024)
6-43671871-G-A		not specified	Uncertain significance (Dec 14, 2023)
6-43671878-C-T		not specified	Uncertain significance (Feb 21, 2024)
6-43671887-G-A		not specified	Uncertain significance (Nov 10, 2022)
6-43671895-C-A		not specified	Uncertain significance (Aug 19, 2024)
6-43675226-G-A		not specified	Uncertain significance (Sep 04, 2024)
6-43675247-C-T		not specified	Uncertain significance (Aug 30, 2021)
6-43675499-C-T		not specified	Uncertain significance (Feb 26, 2024)
6-43675525-G-C		not specified	Uncertain significance (Aug 05, 2024)
6-43675532-C-T		not specified	Uncertain significance (Apr 12, 2024)
6-43675559-A-T		not specified	Uncertain significance (Jul 06, 2021)
6-43675560-T-C		not specified	Likely benign (Mar 16, 2024)
6-43675591-G-C		not specified	Uncertain significance (Mar 06, 2023)
6-43678549-C-T		not specified	Uncertain significance (Nov 08, 2022)
6-43678550-G-A		not specified	Uncertain significance (Aug 10, 2021)
6-43678564-T-C		not specified	Uncertain significance (Feb 15, 2023)
6-43678615-C-T		not specified	Uncertain significance (Dec 04, 2024)
6-43678616-G-A		not specified	Uncertain significance (Sep 22, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MRPS18A	protein_coding	protein_coding	ENST00000372133	6	16489

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000863	0.543	125719	0	29	125748	0.000115

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.111	119	122	0.972	0.00000758	1224
Missense in Polyphen		45	54.37	0.82767		531
Synonymous	-0.0813	45	44.3	1.02	0.00000235	406
Loss of Function	0.729	9	11.7	0.770	7.67e-7	114

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000330	0.000329
Ashkenazi Jewish	0.00	0.00
East Asian	0.000163	0.000163
Finnish	0.0000929	0.0000924
European (Non-Finnish)	0.000123	0.000123
Middle Eastern	0.000163	0.000163
South Asian	0.0000673	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Pathway: Ribosome - Homo sapiens (human);Mitochondrial translation initiation;Translation;Metabolism of proteins;Mitochondrial translation elongation;Mitochondrial translation termination;Mitochondrial translation (Consensus)

Recessive Scores

• pRec: 0.0724

Intolerance Scores

• loftool: 0.272
• rvis_EVS: -0.16
• rvis_percentile_EVS: 41.64

Haploinsufficiency Scores

• pHI: 0.0585
• hipred: N
• hipred_score: 0.167
• ghis: 0.566

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.562

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mrps18a

Gene ontology

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