MRPL30

mitochondrial ribosomal protein L30, the group of Large subunit mitochondrial ribosomal proteins|Mitochondrial ribosomal proteins

Basic information

Region (hg38): 2:99181152-99199561

Links

ENSG00000185414 ∙ NCBI:51263 ∙ OMIM:611838 ∙ HGNC:14036 ∙ Uniprot:Q8TCC3 ∙ 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 MRPL30 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MRPL30 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			9			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	9	0	0

Variants in MRPL30

This is a list of pathogenic ClinVar variants found in the MRPL30 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-99186226-T-G		not specified	Uncertain significance (May 30, 2024)
2-99186228-G-A		not specified	Uncertain significance (Jan 04, 2022)
2-99188180-G-A		not specified	Uncertain significance (Apr 22, 2022)
2-99188190-G-T		not specified	Uncertain significance (Apr 06, 2022)
2-99188253-A-T		not specified	Uncertain significance (Apr 20, 2024)
2-99194806-C-T		not specified	Uncertain significance (Dec 13, 2021)
2-99194847-A-G		not specified	Uncertain significance (Nov 09, 2021)
2-99195587-A-G		not specified	Uncertain significance (Oct 20, 2023)
2-99195619-A-G		not specified	Uncertain significance (Feb 15, 2023)
2-99195620-T-C		not specified	Uncertain significance (Feb 01, 2023)
2-99195629-C-T		not specified	Uncertain significance (Apr 15, 2024)
2-99195696-T-A		not specified	Uncertain significance (Jan 10, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MRPL30	protein_coding	protein_coding	ENST00000338148	5	16548

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0528	0.870	125726	0	5	125731	0.0000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.428	72	83.0	0.868	0.00000413	1038
Missense in Polyphen		14	14.779	0.94731		219
Synonymous	0.113	27	27.8	0.973	0.00000138	292
Loss of Function	1.47	3	7.29	0.412	3.06e-7	99

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000102	0.000102
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.00000879	0.00000879
Middle Eastern	0.0000544	0.0000544
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Pathway: Ribosome - Homo sapiens (human);Mitochondrial translation initiation;Translation;Metabolism of proteins;Mitochondrial translation elongation;Mitochondrial translation termination;Mitochondrial translation (Consensus)

Intolerance Scores

• rvis_EVS: 0.5
• rvis_percentile_EVS: 79.89

Haploinsufficiency Scores

• pHI: 0.0384
• hipred: N
• hipred_score: 0.132
• ghis: 0.425

Essentials

• essential_gene_CRISPR: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.830

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mrpl30

Gene ontology

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