MRPL33

mitochondrial ribosomal protein L33, the group of Large subunit mitochondrial ribosomal proteins|Mitochondrial ribosomal proteins

Basic information

Region (hg38): 2:27771717-27988087

Previous symbols: [ "C2orf1" ]

Links

ENSG00000243147 ∙ NCBI:9553 ∙ OMIM:610059 ∙ HGNC:14487 ∙ Uniprot:O75394 ∙ 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 MRPL33 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MRPL33 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			4			4
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	4	0	0

Variants in MRPL33

This is a list of pathogenic ClinVar variants found in the MRPL33 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-27772684-C-G		not specified	Uncertain significance (Dec 16, 2023)
2-27774447-G-C		not specified	Uncertain significance (Mar 31, 2023)
2-27774462-G-A		not specified	Uncertain significance (Sep 12, 2023)
2-27774514-G-C		not specified	Uncertain significance (Jan 30, 2024)
2-27781660-C-G		not specified	Uncertain significance (Oct 29, 2021)
2-27781739-T-G		not specified	Uncertain significance (Oct 05, 2023)
2-27781763-G-A		not specified	Uncertain significance (Aug 16, 2021)
2-27827722-C-T		not specified	Uncertain significance (Jul 19, 2022)
2-27832762-T-C		not specified	Uncertain significance (Apr 18, 2023)
2-27843079-G-A		not specified	Uncertain significance (Mar 14, 2023)
2-27843169-C-A		not specified	Uncertain significance (Nov 17, 2022)
2-27847050-T-C		not specified	Uncertain significance (May 03, 2023)
2-27847060-T-C		not specified	Uncertain significance (Oct 26, 2021)
2-27847066-C-A		not specified	Uncertain significance (Jun 22, 2023)
2-27848037-T-G		not specified	Uncertain significance (Jan 19, 2024)
2-27848069-T-G		not specified	Uncertain significance (Feb 23, 2023)
2-27848078-C-T		not specified	Uncertain significance (Apr 10, 2023)
2-27858560-C-T		not specified	Uncertain significance (May 30, 2023)
2-27858561-G-A		not specified	Uncertain significance (Dec 20, 2021)
2-27858572-C-G			Likely benign (Jul 01, 2024)
2-27890333-C-T		not specified	Uncertain significance (May 14, 2024)
2-27894586-A-G		not specified	Uncertain significance (May 13, 2024)
2-27894645-A-G		not specified	Uncertain significance (May 08, 2024)
2-27894669-C-T		not specified	Uncertain significance (Oct 25, 2022)
2-27929851-G-C		not specified	Uncertain significance (Jul 20, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MRPL33	protein_coding	protein_coding	ENST00000296102	4	216371

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.365	0.589	125738	0	6	125744	0.0000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.373	30	36.3	0.826	0.00000213	416
Missense in Polyphen		7	11.113	0.62989		141
Synonymous	-0.422	15	13.1	1.15	7.30e-7	120
Loss of Function	1.58	1	4.68	0.214	2.83e-7	53

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.000163	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.0000182	0.0000176
Middle Eastern	0.000163	0.000163
South Asian	0.0000327	0.0000327
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: 0.0665

Intolerance Scores

• loftool: 0.245
• rvis_EVS: -0.01
• rvis_percentile_EVS: 52.85

Haploinsufficiency Scores

• pHI: 0.0722
• hipred: Y
• hipred_score: 0.629
• ghis: 0.590

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: E
• gene_indispensability_pred: N
• gene_indispensability_score: 0.231

Mouse Genome Informatics

• Gene name: Mrpl33

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