MRPL49

mitochondrial ribosomal protein L49, the group of Large subunit mitochondrial ribosomal proteins|Mitochondrial ribosomal proteins

Basic information

Region (hg38): 11:65122183-65127371

Previous symbols: [ "C11orf4" ]

Links

ENSG00000149792 ∙ NCBI:740 ∙ OMIM:606866 ∙ HGNC:1176 ∙ Uniprot:Q13405 ∙ 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 MRPL49 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MRPL49 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			14	1		15
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	14	1	0

Variants in MRPL49

This is a list of pathogenic ClinVar variants found in the MRPL49 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-65122357-C-T		not specified	Uncertain significance (Feb 24, 2025)
11-65122399-A-C		not specified	Uncertain significance (Oct 21, 2024)
11-65122400-G-T		not specified	Uncertain significance (Oct 21, 2024)
11-65122417-G-A		not specified	Uncertain significance (Feb 12, 2024)
11-65124506-A-G		not specified	Uncertain significance (Feb 24, 2025)
11-65124512-A-G		not specified	Uncertain significance (Feb 22, 2023)
11-65124545-CTG-C		COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 60 • Perrault syndrome 1	Pathogenic/Likely pathogenic (May 09, 2025)
11-65124547-G-C		not specified	Uncertain significance (Sep 11, 2024)
11-65125520-C-T		Perrault syndrome 1 • COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 60	Pathogenic/Likely pathogenic (May 13, 2025)
11-65125521-G-A		Perrault syndrome 1	Likely pathogenic (Jan 31, 2024)
11-65125524-C-G		not specified	Uncertain significance (Jan 09, 2024)
11-65125526-C-T		not specified	Uncertain significance (Oct 14, 2023)
11-65125531-G-C		not specified	Uncertain significance (Apr 05, 2023)
11-65125533-A-C		COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 60 • Perrault syndrome 1	Pathogenic/Likely pathogenic (May 09, 2025)
11-65125538-A-G		not specified	Likely benign (Jan 30, 2024)
11-65125550-A-G		not specified	Uncertain significance (Apr 08, 2022)
11-65125556-A-G		not specified	Uncertain significance (Jan 04, 2022)
11-65125560-C-T		not specified	Uncertain significance (Mar 20, 2023)
11-65125563-A-C		not specified	Uncertain significance (Sep 05, 2024)
11-65125590-G-A		not specified	Uncertain significance (Jul 02, 2024)
11-65125760-C-T		not specified	Uncertain significance (May 12, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MRPL49	protein_coding	protein_coding	ENST00000279242	4	5189

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000311	0.596	125703	0	44	125747	0.000175

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.282	94	102	0.921	0.00000588	1060
Missense in Polyphen		30	32.882	0.91235		362
Synonymous	-0.896	48	40.7	1.18	0.00000220	348
Loss of Function	0.596	6	7.80	0.770	4.32e-7	76

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000537	0.000537
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.000238	0.000237
Middle Eastern	0.0000544	0.0000544
South Asian	0.00	0.00
Other	0.000165	0.000163

dbNSFP

Source: dbNSFP

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

Recessive Scores

• pRec: 0.157

Intolerance Scores

• loftool: 0.657
• rvis_EVS: -0.01
• rvis_percentile_EVS: 53.19

Haploinsufficiency Scores

• pHI: 0.104
• hipred: N
• hipred_score: 0.170
• ghis: 0.562

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.791

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mrpl49

Gene ontology

• Biological process: 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