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GeneBe

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

ENSG00000214026NCBI:6150OMIM:600789HGNC:10322Uniprot:Q16540AlphaFoldGenCCjaxSfariGnomADPubmed

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

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
MRPL23protein_codingprotein_codingENST00000397298 537245
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
1.63e-80.03521257300161257460.0000636
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.3791171061.100.00000743987
Missense in Polyphen4741.1621.1418377
Synonymous-0.5315449.31.100.00000402298
Loss of Function-1.21106.641.513.69e-768

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0001520.000152
Ashkenazi Jewish0.000.00
East Asian0.0002200.000217
Finnish0.00004630.0000462
European (Non-Finnish)0.00005330.0000527
Middle Eastern0.0002200.000217
South Asian0.00006530.0000653
Other0.000.00

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Mrpl23
Phenotype

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