MRPL35

mitochondrial ribosomal protein L35, the group of Large subunit mitochondrial ribosomal proteins|Mitochondrial ribosomal proteins

Basic information

Region (hg38): 2:86199355-86213790

Links

ENSG00000132313 ∙ NCBI:51318 ∙ OMIM:611841 ∙ HGNC:14489 ∙ Uniprot:Q9NZE8 ∙ 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 MRPL35 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MRPL35 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			9			9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	9	1	0

Variants in MRPL35

This is a list of pathogenic ClinVar variants found in the MRPL35 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-86199497-G-A		not specified	Uncertain significance (Aug 16, 2021)
2-86206195-C-T		not specified	Uncertain significance (Feb 06, 2024)
2-86206268-G-A		not specified	Uncertain significance (Mar 07, 2024)
2-86207263-A-G		not specified	Uncertain significance (May 18, 2023)
2-86207268-G-A		not specified	Uncertain significance (Sep 14, 2023)
2-86210498-T-A		not specified	Uncertain significance (Jan 09, 2024)
2-86210501-T-C		not specified	Uncertain significance (Jan 29, 2024)
2-86210529-G-A		not specified	Uncertain significance (Dec 21, 2022)
2-86210607-G-A		not specified	Uncertain significance (Sep 16, 2021)
2-86210617-C-T		not specified	Likely benign (Feb 26, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MRPL35	protein_coding	protein_coding	ENST00000337109	4	14440

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00239	0.788	125727	0	21	125748	0.0000835

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0592	102	104	0.984	0.00000569	1198
Missense in Polyphen		15	24.426	0.6141		324
Synonymous	-0.324	44	41.4	1.06	0.00000227	391
Loss of Function	1.01	5	8.10	0.617	4.89e-7	97

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000119	0.000119
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.000115	0.000114
Middle Eastern	0.00	0.00
South Asian	0.000132	0.000131
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)

Recessive Scores

• pRec: 0.0823

Intolerance Scores

• loftool: 0.792
• rvis_EVS: 0.37
• rvis_percentile_EVS: 75.12

Haploinsufficiency Scores

• pHI: 0.0698
• hipred: N
• hipred_score: 0.198
• ghis: 0.488

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: E
• gene_indispensability_pred: N
• gene_indispensability_score: 0.189

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mrpl35

Gene ontology

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