MRPL22

mitochondrial ribosomal protein L22, the group of Large subunit mitochondrial ribosomal proteins|Mitochondrial ribosomal proteins

Basic information

Region (hg38): 5:154941073-154969411

Links

ENSG00000082515 ∙ NCBI:29093 ∙ OMIM:611835 ∙ HGNC:14480 ∙ Uniprot:Q9NWU5 ∙ 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 MRPL22 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MRPL22 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
missense			10			10
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region			1			1
non coding						0
Total	0	0	10	0	1

Variants in MRPL22

This is a list of pathogenic ClinVar variants found in the MRPL22 region.

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

Position	Type	Phenotype	Significance	ClinVar
5-154941260-C-T			Benign (Mar 01, 2023)
5-154950817-A-G			Uncertain significance (Nov 01, 2023)
5-154950825-T-G		not specified	Uncertain significance (Jan 02, 2024)
5-154950871-G-A		not specified	Uncertain significance (Apr 19, 2024)
5-154950928-G-A		not specified	Uncertain significance (Dec 03, 2021)
5-154956383-T-C		not specified	Uncertain significance (Sep 12, 2023)
5-154956423-A-T		not specified	Uncertain significance (Mar 13, 2023)
5-154957135-A-G		not specified	Uncertain significance (Mar 04, 2024)
5-154957154-A-G		not specified	Uncertain significance (Sep 27, 2021)
5-154966707-G-A		not specified	Uncertain significance (Aug 30, 2021)
5-154966721-C-T		not specified	Uncertain significance (Sep 27, 2021)
5-154966745-C-T		not specified	Uncertain significance (Jun 24, 2022)
5-154966793-G-T		not specified	Uncertain significance (Mar 25, 2024)
5-154966830-C-T		not specified	Uncertain significance (Jun 29, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MRPL22	protein_coding	protein_coding	ENST00000523037	7	28342

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000139	0.630	125714	0	34	125748	0.000135

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.273	113	121	0.930	0.00000673	1326
Missense in Polyphen		37	45.649	0.81053		516
Synonymous	-0.0856	41	40.3	1.02	0.00000200	385
Loss of Function	1.00	11	15.2	0.722	9.68e-7	162

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000299	0.000299
Ashkenazi Jewish	0.00	0.00
East Asian	0.000272	0.000272
Finnish	0.00	0.00
European (Non-Finnish)	0.000132	0.000132
Middle Eastern	0.000272	0.000272
South Asian	0.000163	0.000163
Other	0.000163	0.000163

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: 0.0869

Intolerance Scores

• loftool: 0.811
• rvis_EVS: -0.14
• rvis_percentile_EVS: 43.57

Haploinsufficiency Scores

• pHI: 0.0944
• hipred: N
• hipred_score: 0.498
• ghis: 0.560

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: N
• gene_indispensability_score: 0.476

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mrpl22

Gene ontology

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