MRPL23

mitochondrial ribosomal protein L23, the group of Large subunit mitochondrial ribosomal proteins|Mitochondrial ribosomal proteins

Basic information

Region (hg38): 11:1947277-1984522

Previous symbols: [ "RPL23L" ]

Links

ENSG00000214026 ∙ NCBI:6150 ∙ OMIM:600789 ∙ HGNC:10322 ∙ Uniprot:Q16540 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MRPL23 gene.

• Inborn genetic diseases (9 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MRPL23 gene is commonly pathogenic or not.

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 variant					1	1
non coding						0
Total	0	0	9	0	1

Variants in MRPL23

This is a list of pathogenic ClinVar variants found in the MRPL23 region.

Position	Type	Phenotype	Significance	ClinVar
11-1950912-C-T		Inborn genetic diseases	Uncertain significance (Mar 31, 2023)
11-1950951-T-G		Inborn genetic diseases	Uncertain significance (Nov 23, 2021)
11-1950990-G-A		Inborn genetic diseases	Uncertain significance (Aug 02, 2022)
11-1952119-G-A			Benign (Apr 12, 2018)
11-1952182-G-A		Inborn genetic diseases	Uncertain significance (Aug 02, 2021)
11-1952192-G-A		Inborn genetic diseases	Uncertain significance (Jul 26, 2021)
11-1952197-C-T		Inborn genetic diseases	Uncertain significance (Oct 27, 2022)
11-1952201-T-A		Inborn genetic diseases	Uncertain significance (Feb 03, 2022)
11-1952827-C-T		Inborn genetic diseases	Uncertain significance (May 26, 2023)
11-1956383-C-T		Inborn genetic diseases	Uncertain significance (Nov 29, 2021)
11-1956386-G-A		Inborn genetic diseases	Uncertain significance (Jun 16, 2023)
11-1956388-C-T		Inborn genetic diseases	Uncertain significance (Oct 05, 2022)
11-1956389-G-A		Inborn genetic diseases	Uncertain significance (Sep 15, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MRPL23	protein_coding	protein_coding	ENST00000397298	5	37245

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.63e-8	0.0352	125730	0	16	125746	0.0000636

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.379	117	106	1.10	0.00000743	987
Missense in Polyphen		47	41.162	1.1418		377
Synonymous	-0.531	54	49.3	1.10	0.00000402	298
Loss of Function	-1.21	10	6.64	1.51	3.69e-7	68

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000152	0.000152
Ashkenazi Jewish	0.00	0.00
East Asian	0.000220	0.000217
Finnish	0.0000463	0.0000462
European (Non-Finnish)	0.0000533	0.0000527
Middle Eastern	0.000220	0.000217
South Asian	0.0000653	0.0000653
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

• loftool: 0.771
• rvis_EVS: 1.11
• rvis_percentile_EVS: 91.99

Haploinsufficiency Scores

• pHI: 0.117
• hipred: N
• hipred_score: 0.329
• ghis: 0.397

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.775

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mrpl23

Gene ontology

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