MRPL34

mitochondrial ribosomal protein L34, the group of Large subunit mitochondrial ribosomal proteins|Mitochondrial ribosomal proteins

Basic information

Region (hg38): 19:17292609-17306843

Links

ENSG00000130312 ∙ NCBI:64981 ∙ OMIM:611840 ∙ HGNC:14488 ∙ Uniprot:Q9BQ48 ∙ 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 MRPL34 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MRPL34 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			14
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	0	0

Variants in MRPL34

This is a list of pathogenic ClinVar variants found in the MRPL34 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-17292719-T-G		not specified	Uncertain significance (Mar 01, 2023)
19-17294316-G-A		not specified	Uncertain significance (Apr 25, 2022)
19-17294407-C-T		not specified	Uncertain significance (Jan 04, 2022)
19-17294481-G-C		not specified	Uncertain significance (Jan 17, 2024)
19-17294491-G-T		not specified	Uncertain significance (Dec 13, 2022)
19-17294827-G-C		not specified	Uncertain significance (Jan 23, 2023)
19-17300857-C-A		not specified	Uncertain significance (Dec 28, 2023)
19-17300911-C-T		not specified	Uncertain significance (Apr 07, 2023)
19-17300973-G-A		not specified	Uncertain significance (Sep 28, 2021)
19-17301023-A-C		not specified	Uncertain significance (Dec 16, 2023)
19-17301202-C-T		not specified	Uncertain significance (Jun 02, 2023)
19-17301211-C-T		not specified	Uncertain significance (Mar 17, 2023)
19-17301216-C-T		not specified	Uncertain significance (Sep 15, 2021)
19-17301246-G-A		not specified	Uncertain significance (Nov 21, 2022)
19-17301250-C-A		not specified	Uncertain significance (Mar 06, 2023)
19-17301430-C-G		not specified	Uncertain significance (Nov 09, 2021)
19-17301490-C-G		not specified	Uncertain significance (Sep 12, 2023)
19-17301557-G-A			Benign (Oct 04, 2018)
19-17301585-C-G		not specified	Uncertain significance (Jan 19, 2024)
19-17305931-T-G		not specified	Uncertain significance (Jul 05, 2022)
19-17305953-G-A		not specified	Uncertain significance (Apr 12, 2024)
19-17306171-T-C		not specified	Uncertain significance (Jan 30, 2024)
19-17306177-C-A		not specified	Uncertain significance (Mar 18, 2024)
19-17306195-T-C		not specified	Uncertain significance (Jun 11, 2021)
19-17306201-A-G		not specified	Uncertain significance (Jun 11, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MRPL34	protein_coding	protein_coding	ENST00000252602	2	14235

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000691	0.171	125493	0	4	125497	0.0000159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0319	49	48.4	1.01	0.00000219	562
Missense in Polyphen		15	17.788	0.84325		197
Synonymous	-0.619	26	22.3	1.17	9.95e-7	197
Loss of Function	-1.30	5	2.70	1.85	1.16e-7	32

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000337	0.0000265
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)

Recessive Scores

• pRec: 0.104

Haploinsufficiency Scores

• pHI: 0.108
• hipred: N
• hipred_score: 0.337
• ghis: 0.457

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.975

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mrpl34

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: structural constituent of ribosome