MRPL43

mitochondrial ribosomal protein L43, the group of Large subunit mitochondrial ribosomal proteins|Mitochondrial ribosomal proteins

Basic information

Region (hg38): 10:100969457-100987515

Links

ENSG00000055950 ∙ NCBI:84545 ∙ OMIM:611848 ∙ HGNC:14517 ∙ Uniprot:Q8N983 ∙ 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 MRPL43 gene.

• Inborn genetic diseases (37 variants)
• not provided (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MRPL43 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			1	1		2
missense			5			5
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			31		5	36
Total	0	0	37	1	5

Variants in MRPL43

This is a list of pathogenic ClinVar variants found in the MRPL43 region.

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

Position	Type	Phenotype	Significance	ClinVar
10-100972951-C-T			Likely benign (Jun 28, 2018)
10-100972962-C-A		not specified	Uncertain significance (Jun 07, 2023)
10-100973027-C-T		not specified	Uncertain significance (Feb 07, 2023)
10-100973155-G-A		not specified	Uncertain significance (Jul 20, 2021)
10-100973162-C-T		not specified	Uncertain significance (Jan 27, 2022)
10-100973209-C-A		not specified	Uncertain significance (Aug 10, 2023)
10-100973218-G-A		not specified	Uncertain significance (Jan 24, 2024)
10-100973222-G-A		not specified	Uncertain significance (Nov 27, 2023)
10-100973251-G-T		not specified	Uncertain significance (Dec 06, 2021)
10-100973270-A-G		not specified	Uncertain significance (May 05, 2023)
10-100973591-A-C		not specified	Uncertain significance (Aug 09, 2021)
10-100977647-C-T		not specified	Uncertain significance (Oct 26, 2022)
10-100977653-C-T		not specified	Uncertain significance (Dec 21, 2022)
10-100977666-G-A		not specified	Uncertain significance (Mar 07, 2023)
10-100977677-A-G		not specified	Uncertain significance (Nov 17, 2023)
10-100977701-C-G		not specified	Uncertain significance (Feb 16, 2023)
10-100977729-T-C		not specified	Uncertain significance (Dec 11, 2023)
10-100978305-C-A		not specified	Uncertain significance (May 05, 2023)
10-100978333-G-C		not specified	Uncertain significance (Aug 12, 2022)
10-100978364-C-T		not specified	Uncertain significance (Dec 06, 2022)
10-100978365-G-A		not specified	Uncertain significance (Sep 16, 2021)
10-100978532-G-A		not specified	Uncertain significance (Dec 19, 2022)
10-100978583-C-T		not specified	Uncertain significance (Jan 06, 2023)
10-100978625-A-G		not specified	Uncertain significance (Jan 04, 2022)
10-100978875-G-A		not specified	Uncertain significance (Apr 22, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MRPL43	protein_coding	protein_coding	ENST00000342071	6	18058

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.89e-7	0.259	125705	0	43	125748	0.000171

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.09	116	154	0.753	0.00000812	1496
Missense in Polyphen		29	44.143	0.65695		438
Synonymous	-0.504	71	65.8	1.08	0.00000362	495
Loss of Function	0.338	11	12.3	0.896	5.92e-7	117

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00103	0.000938
Ashkenazi Jewish	0.0000993	0.0000992
East Asian	0.000332	0.000326
Finnish	0.0000466	0.0000462
European (Non-Finnish)	0.000118	0.000114
Middle Eastern	0.000332	0.000326
South Asian	0.0000328	0.0000327
Other	0.000167	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: 0.0963

Intolerance Scores

• loftool: 0.127
• rvis_EVS: -0.05
• rvis_percentile_EVS: 50.01

Haploinsufficiency Scores

• pHI: 0.168
• hipred: N
• hipred_score: 0.238
• ghis: 0.570

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: N
• 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: Mrpl43

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;protein binding