MRPL32

mitochondrial ribosomal protein L32, the group of Large subunit mitochondrial ribosomal proteins|Mitochondrial ribosomal proteins

Basic information

Region (hg38): 7:42932375-42948958

Links

ENSG00000106591 ∙ NCBI:64983 ∙ OMIM:611839 ∙ HGNC:14035 ∙ Uniprot:Q9BYC8 ∙ 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 MRPL32 gene.

• Inborn genetic diseases (9 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MRPL32 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 MRPL32

This is a list of pathogenic ClinVar variants found in the MRPL32 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-42932427-C-T		not specified	Uncertain significance (Sep 14, 2023)
7-42932439-G-A		not specified	Uncertain significance (Jun 01, 2023)
7-42932454-A-G		not specified	Likely benign (Oct 17, 2023)
7-42932460-A-G		not specified	Uncertain significance (Jan 22, 2024)
7-42932508-C-T		not specified	Uncertain significance (Dec 01, 2022)
7-42934975-G-A		not specified	Uncertain significance (Apr 12, 2022)
7-42935011-A-C		not specified	Uncertain significance (Nov 08, 2022)
7-42935033-G-T		not specified	Uncertain significance (Dec 12, 2023)
7-42935095-C-T		not specified	Uncertain significance (Jun 06, 2022)
7-42937337-T-C		not specified	Uncertain significance (May 06, 2022)
7-42937386-G-A		not specified	Uncertain significance (Dec 21, 2022)
7-42937470-T-C		not specified	Uncertain significance (Jan 24, 2024)
7-42937503-C-T		not specified	Uncertain significance (Feb 11, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MRPL32	protein_coding	protein_coding	ENST00000223324	3	16759

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000897	0.568	125672	0	76	125748	0.000302

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0475	109	108	1.01	0.00000547	1213
Missense in Polyphen		21	25.556	0.82174		318
Synonymous	-0.420	43	39.6	1.08	0.00000193	377
Loss of Function	0.621	7	9.01	0.777	4.84e-7	94

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000684	0.000684
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.000279	0.000273
Middle Eastern	0.00	0.00
South Asian	0.000849	0.000850
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)

Recessive Scores

• pRec: 0.0952

Intolerance Scores

• loftool: 0.423
• rvis_EVS: 0.28
• rvis_percentile_EVS: 71.27

Haploinsufficiency Scores

• pHI: 0.106
• hipred: N
• hipred_score: 0.123
• ghis: 0.532

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.667

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mrpl32

Gene ontology

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