MRPL48

mitochondrial ribosomal protein L48, the group of Large subunit mitochondrial ribosomal proteins|Mitochondrial ribosomal proteins

Basic information

Region (hg38): 11:73787872-73865133

Links

ENSG00000175581 ∙ NCBI:51642 ∙ OMIM:611853 ∙ HGNC:16653 ∙ Uniprot:Q96GC5 ∙ 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 MRPL48 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MRPL48 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			6			6
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			1			1
Total	0	0	7	0	0

Variants in MRPL48

This is a list of pathogenic ClinVar variants found in the MRPL48 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-73808321-C-T		not specified	Uncertain significance (Jul 16, 2021)
11-73808336-C-T		not specified	Uncertain significance (May 29, 2024)
11-73825725-A-T		not specified	Uncertain significance (Apr 20, 2024)
11-73825731-C-T		not specified	Uncertain significance (Aug 12, 2022)
11-73825732-G-A		not specified	Uncertain significance (Jan 26, 2022)
11-73825759-G-A		not specified	Uncertain significance (Oct 05, 2023)
11-73844919-G-A		not specified	Uncertain significance (May 30, 2023)
11-73863178-G-A		not specified	Uncertain significance (Nov 29, 2021)
11-73863241-G-A		not specified	Uncertain significance (May 09, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MRPL48	protein_coding	protein_coding	ENST00000310614	8	77818

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00433	0.966	124622	0	15	124637	0.0000602

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.943	78	105	0.741	0.00000498	1358
Missense in Polyphen		15	27.655	0.54241		364
Synonymous	1.03	32	40.3	0.794	0.00000208	393
Loss of Function	1.90	6	13.6	0.443	7.50e-7	170

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000944	0.0000936
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000557	0.0000556
Finnish	0.00	0.00
European (Non-Finnish)	0.0000640	0.0000619
Middle Eastern	0.0000557	0.0000556
South Asian	0.000131	0.000131
Other	0.000165	0.000165

dbNSFP

Source: dbNSFP

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

Recessive Scores

• pRec: 0.0936

Intolerance Scores

• loftool: 0.757
• rvis_EVS: 0.01
• rvis_percentile_EVS: 54.95

Haploinsufficiency Scores

• pHI: 0.118
• hipred: N
• hipred_score: 0.230
• ghis: 0.570

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.985

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mrpl48

Gene ontology

• Biological process: mitochondrial translational elongation;mitochondrial translational termination
• Cellular component: mitochondrion;mitochondrial inner membrane;mitochondrial ribosome;mitochondrial large ribosomal subunit
• Molecular function: protein binding