MRPL51

mitochondrial ribosomal protein L51, the group of Large subunit mitochondrial ribosomal proteins|Mitochondrial ribosomal proteins

Basic information

Region (hg38): 12:6491886-6493841

Previous symbols: [ "MRP64" ]

Links

ENSG00000111639 ∙ NCBI:51258 ∙ OMIM:611855 ∙ HGNC:14044 ∙ Uniprot:Q4U2R6 ∙ 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 MRPL51 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MRPL51 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			7			7
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	7	0	0

Variants in MRPL51

This is a list of pathogenic ClinVar variants found in the MRPL51 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-6492365-A-G		not specified	Uncertain significance (Sep 27, 2021)
12-6492433-C-A		not specified	Uncertain significance (Jun 09, 2022)
12-6492447-T-G		not specified	Uncertain significance (Apr 24, 2024)
12-6492451-G-C		not specified	Uncertain significance (Apr 19, 2023)
12-6492452-T-G		not specified	Uncertain significance (Apr 24, 2024)
12-6492897-G-T		not specified	Uncertain significance (Jan 03, 2024)
12-6492930-G-C		not specified	Uncertain significance (Feb 05, 2024)
12-6492940-G-A		not specified	Uncertain significance (Nov 15, 2024)
12-6492970-C-T		not specified	Uncertain significance (May 31, 2023)
12-6493103-G-C		not specified	Uncertain significance (Dec 19, 2023)
12-6493124-G-A		not specified	Uncertain significance (Apr 23, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MRPL51	protein_coding	protein_coding	ENST00000229238	3	1858

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0328	0.831	125732	0	16	125748	0.0000636

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.195	74	78.9	0.938	0.00000422	837
Missense in Polyphen		26	33.087	0.7858		362
Synonymous	-1.46	37	27.3	1.36	0.00000127	245
Loss of Function	1.17	3	6.13	0.489	3.47e-7	61

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.0000886	0.0000879
Middle Eastern	0.000109	0.000109
South Asian	0.000137	0.000131
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)

Recessive Scores

• pRec: 0.0741

Intolerance Scores

• loftool: 0.703
• rvis_EVS: 0.15
• rvis_percentile_EVS: 64.11

Haploinsufficiency Scores

• pHI: 0.0766
• hipred: N
• hipred_score: 0.329
• ghis: 0.515

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.914

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mrpl51
• Phenotype: homeostasis/metabolism phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); growth/size/body region phenotype; embryo phenotype

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;protein binding