MRPS26

mitochondrial ribosomal protein S26, the group of Small subunit mitochondrial ribosomal proteins|Mitochondrial ribosomal proteins

Basic information

Region (hg38): 20:3046052-3048250

Previous symbols: [ "C20orf193" ]

Links

ENSG00000125901 ∙ NCBI:64949 ∙ OMIM:611988 ∙ HGNC:14045 ∙ Uniprot:Q9BYN8 ∙ 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 MRPS26 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MRPS26 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			12	2		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	12	2	0

Variants in MRPS26

This is a list of pathogenic ClinVar variants found in the MRPS26 region.

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

Position	Type	Phenotype	Significance	ClinVar
20-3046075-C-G		not specified	Uncertain significance (Nov 07, 2022)
20-3046102-A-C		not specified	Likely benign (Jul 09, 2021)
20-3046114-C-T		not specified	Uncertain significance (Sep 09, 2021)
20-3046118-G-A		not specified	Uncertain significance (Jan 25, 2023)
20-3046135-C-T		not specified	Uncertain significance (Mar 15, 2024)
20-3046186-G-A		not specified	Uncertain significance (Sep 06, 2022)
20-3046192-G-A		not specified	Uncertain significance (May 25, 2022)
20-3046192-G-C		not specified	Uncertain significance (Jul 21, 2021)
20-3046200-G-A		not specified	Uncertain significance (Nov 15, 2021)
20-3046250-A-G		not specified	Likely benign (Jan 23, 2024)
20-3046259-G-A		not specified	Uncertain significance (May 14, 2024)
20-3046511-C-G		not specified	Uncertain significance (Nov 12, 2021)
20-3046622-G-A		not specified	Uncertain significance (Nov 03, 2023)
20-3046639-C-T		not specified	Uncertain significance (Jun 11, 2024)
20-3046702-G-A		not specified	Uncertain significance (Apr 18, 2023)
20-3047777-C-T		not specified	Uncertain significance (Feb 22, 2023)
20-3047855-C-T		not specified	Uncertain significance (Jul 08, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MRPS26	protein_coding	protein_coding	ENST00000380325	4	2310

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000137	0.227	125709	0	11	125720	0.0000437

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.483	108	123	0.878	0.00000608	1279
Missense in Polyphen		27	35.044	0.77047		398
Synonymous	0.717	46	52.6	0.874	0.00000241	421
Loss of Function	0.0284	9	9.09	0.990	4.80e-7	90

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000635	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.0000480	0.0000440
Middle Eastern	0.000109	0.000109
South Asian	0.0000669	0.0000653
Other	0.000166	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: 0.0871

Haploinsufficiency Scores

• pHI: 0.100
• hipred: N
• hipred_score: 0.274
• ghis: 0.623

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: K
• gene_indispensability_pred: E
• gene_indispensability_score: 0.983

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mrps26

Gene ontology

• Biological process: DNA damage response, detection of DNA damage;mitochondrial translational elongation;mitochondrial translational termination
• Cellular component: nucleoplasm;mitochondrion;mitochondrial inner membrane;mitochondrial small ribosomal subunit
• Molecular function: RNA binding