MRPL45

mitochondrial ribosomal protein L45, the group of Large subunit mitochondrial ribosomal proteins|Mitochondrial ribosomal proteins

Basic information

Region (hg38): 17:38297023-38323217

Links

ENSG00000278845 ∙ NCBI:84311 ∙ OMIM:611850 ∙ HGNC:16651 ∙ Uniprot:Q9BRJ2 ∙ 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 MRPL45 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MRPL45 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			27	2		29
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	27	2	0

Variants in MRPL45

This is a list of pathogenic ClinVar variants found in the MRPL45 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-38297194-C-G		not specified	Uncertain significance (Aug 28, 2023)
17-38298477-T-C		not specified	Uncertain significance (Aug 02, 2022)
17-38298525-C-T		not specified	Uncertain significance (Jan 03, 2024)
17-38298550-T-G		not specified	Uncertain significance (May 10, 2024)
17-38298597-C-T		not specified	Likely benign (Jul 20, 2022)
17-38298603-G-A		not specified	Likely benign (Sep 29, 2023)
17-38299383-G-A		not specified	Uncertain significance (Jun 19, 2024)
17-38299425-G-A		not specified	Uncertain significance (Jun 24, 2022)
17-38299465-T-G		not specified	Uncertain significance (Apr 22, 2024)
17-38306537-C-T		not specified	Uncertain significance (Jun 22, 2023)
17-38306567-A-G		not specified	Uncertain significance (Dec 06, 2021)
17-38306607-T-C		not specified	Uncertain significance (May 20, 2024)
17-38306615-C-T		not specified	Uncertain significance (Feb 05, 2024)
17-38306621-T-G		not specified	Uncertain significance (May 30, 2024)
17-38318687-C-A		not specified	Uncertain significance (Jan 29, 2024)
17-38318701-G-A		not specified	Uncertain significance (Dec 16, 2023)
17-38318706-C-T		not specified	Uncertain significance (Nov 15, 2021)
17-38318734-C-A		not specified	Uncertain significance (Oct 26, 2021)
17-38320648-G-A		not specified	Uncertain significance (Nov 22, 2021)
17-38320660-T-G		not specified	Uncertain significance (Sep 14, 2022)
17-38320741-A-C		not specified	Uncertain significance (Jan 11, 2023)
17-38320750-C-T		not specified	Uncertain significance (Mar 20, 2023)
17-38320751-G-A		not specified	Uncertain significance (May 31, 2023)
17-38320753-A-T		not specified	Uncertain significance (Feb 10, 2022)
17-38320759-A-G		not specified	Uncertain significance (Sep 07, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

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

Intolerance Scores

• loftool: 0.831
• rvis_EVS: 0.17
• rvis_percentile_EVS: 65.76

Haploinsufficiency Scores

• pHI: 0.187
• hipred: N
• hipred_score: 0.307

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.839

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mrpl45

Gene ontology

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