MRPL20

mitochondrial ribosomal protein L20, the group of Large subunit mitochondrial ribosomal proteins|Mitochondrial ribosomal proteins

Basic information

Region (hg38): 1:1401908-1407293

Links

ENSG00000242485 ∙ NCBI:55052 ∙ OMIM:611833 ∙ HGNC:14478 ∙ Uniprot:Q9BYC9 ∙ 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 MRPL20 gene.

• Inborn genetic diseases (9 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MRPL20 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			8	1		9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	8	1	0

Variants in MRPL20

This is a list of pathogenic ClinVar variants found in the MRPL20 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-1402102-C-T		not specified	Uncertain significance (Jul 20, 2022)
1-1402130-C-T		not specified	Uncertain significance (Nov 30, 2022)
1-1402137-C-G		not specified	Uncertain significance (Sep 01, 2021)
1-1402225-G-A		not specified	Uncertain significance (Aug 22, 2023)
1-1405818-A-T		not specified	Uncertain significance (Jan 04, 2024)
1-1405862-C-G		not specified	Uncertain significance (Jan 16, 2024)
1-1406917-T-A		not specified	Likely benign (Jun 18, 2021)
1-1406947-T-C		not specified	Uncertain significance (Mar 21, 2022)
1-1407139-G-A		not specified	Uncertain significance (Sep 27, 2022)
1-1407139-G-C		not specified	Uncertain significance (Mar 07, 2024)
1-1407153-T-A		not specified	Uncertain significance (Mar 01, 2023)
1-1407192-C-A		not specified	Uncertain significance (Nov 09, 2021)
1-1407205-T-C		not specified	Uncertain significance (May 04, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MRPL20	protein_coding	protein_coding	ENST00000344843	4	5406

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000271	0.181	125725	0	23	125748	0.0000915

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.827	105	83.7	1.25	0.00000401	954
Missense in Polyphen		34	27.545	1.2344		323
Synonymous	-2.27	51	34.1	1.49	0.00000183	298
Loss of Function	-0.304	8	7.12	1.12	3.85e-7	71

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000923	0.0000923
Ashkenazi Jewish	0.0000993	0.0000992
East Asian	0.000109	0.000109
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000705	0.0000703
Middle Eastern	0.000109	0.000109
South Asian	0.000294	0.000294
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Pathway: Ribosome - Homo sapiens (human);miR-targeted genes in leukocytes - TarBase;miR-targeted genes in lymphocytes - TarBase;miR-targeted genes in muscle cell - TarBase;miR-targeted genes in squamous cell - TarBase;Mitochondrial translation initiation;Translation;Metabolism of proteins;Mitochondrial translation elongation;Mitochondrial translation termination;Mitochondrial translation (Consensus)

Recessive Scores

• pRec: 0.150

Intolerance Scores

• loftool: 0.421
• rvis_EVS: 0.13
• rvis_percentile_EVS: 62.74

Haploinsufficiency Scores

• pHI: 0.0935
• hipred: Y
• hipred_score: 0.518
• ghis: 0.577

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.890

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mrpl20

Gene ontology

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