MRPL36

mitochondrial ribosomal protein L36, the group of Large subunit mitochondrial ribosomal proteins|Mitochondrial ribosomal proteins

Basic information

Region (hg38): 5:1798385-1801366

Links

ENSG00000171421 ∙ NCBI:64979 ∙ OMIM:611842 ∙ HGNC:14490 ∙ Uniprot:Q9P0J6 ∙ 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 MRPL36 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MRPL36 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			7			7
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	7	0	0

Variants in MRPL36

This is a list of pathogenic ClinVar variants found in the MRPL36 region.

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

Position	Type	Phenotype	Significance	ClinVar
5-1798644-G-C		not specified	Uncertain significance (Aug 12, 2021)
5-1798713-G-T		not specified	Uncertain significance (Dec 15, 2023)
5-1798766-A-C		not specified	Uncertain significance (Aug 08, 2023)
5-1798790-C-T		not specified	Uncertain significance (Oct 18, 2021)
5-1798860-G-C		not specified	Uncertain significance (Jun 29, 2022)
5-1798866-G-C		not specified	Uncertain significance (Nov 06, 2023)
5-1798883-C-T		not specified	Uncertain significance (Sep 06, 2022)
5-1801063-G-T			Benign (Jun 14, 2018)
5-1801312-G-C			Benign (Jun 23, 2018)
5-1801313-C-CG			Benign (Jun 23, 2018)
5-1801318-A-G			Benign (Jun 23, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MRPL36	protein_coding	protein_coding	ENST00000508987	1	2981

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.337	76	68.2	1.11	0.00000451	642
Missense in Polyphen		18	14.06	1.2803		139
Synonymous	-1.70	40	28.4	1.41	0.00000181	234
Loss of Function

LoF frequencies by population

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

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: 0.0810

Intolerance Scores

• loftool: 0.381
• rvis_EVS: -0.07
• rvis_percentile_EVS: 48.12

Haploinsufficiency Scores

• pHI: 0.132
• hipred: N
• hipred_score: 0.146
• ghis: 0.552

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.995

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mrpl36

Gene ontology

• Biological process: translation;ribosome biogenesis;mitochondrial translational elongation;mitochondrial translational termination
• Cellular component: mitochondrion;mitochondrial inner membrane;mitochondrial large ribosomal subunit;nuclear body
• Molecular function: structural constituent of ribosome