MRPL57

mitochondrial ribosomal protein L57, the group of Large subunit mitochondrial ribosomal proteins|Mitochondrial ribosomal proteins

Basic information

Region (hg38): 13:21176658-21179084

Previous symbols: [ "MRP63" ]

Links

ENSG00000173141 ∙ NCBI:78988 ∙ OMIM:611997 ∙ HGNC:14514 ∙ Uniprot:Q9BQC6 ∙ 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 MRPL57 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MRPL57 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 MRPL57

This is a list of pathogenic ClinVar variants found in the MRPL57 region.

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

Position	Type	Phenotype	Significance	ClinVar
13-21177011-A-G		not specified	Uncertain significance (May 17, 2023)
13-21177070-C-T		not specified	Uncertain significance (Dec 14, 2021)
13-21177083-G-C		not specified	Uncertain significance (Jul 12, 2023)
13-21177090-G-T		not specified	Uncertain significance (Dec 21, 2022)
13-21177110-T-G		not specified	Uncertain significance (Jan 17, 2024)
13-21177181-G-T		not specified	Uncertain significance (Jan 02, 2024)
13-21177182-C-T		not specified	Likely benign (Jan 02, 2024)
13-21177196-C-T		not specified	Uncertain significance (Nov 17, 2023)
13-21177203-A-G		not specified	Uncertain significance (Dec 22, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MRPL57	protein_coding	protein_coding	ENST00000309594	1	2440

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.139	0.640	125135	0	10	125145	0.0000400

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.497	78	66.6	1.17	0.00000300	663
Missense in Polyphen		20	20.143	0.9929		213
Synonymous	-1.12	37	29.3	1.26	0.00000135	209
Loss of Function	0.593	1	1.88	0.533	8.12e-8	17

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000545	0.0000545
Finnish	0.00	0.00
European (Non-Finnish)	0.0000726	0.0000708
Middle Eastern	0.0000545	0.0000545
South Asian	0.0000328	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Pathway: Mitochondrial translation initiation;Translation;Metabolism of proteins;Mitochondrial translation elongation;Mitochondrial translation termination;Mitochondrial translation (Consensus)

Intolerance Scores

• rvis_EVS: 0.33
• rvis_percentile_EVS: 73.11

Haploinsufficiency Scores

• pHI: 0.110
• hipred: N
• hipred_score: 0.346
• ghis: 0.530

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Mrpl57

Gene ontology

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