MRPL17

mitochondrial ribosomal protein L17, the group of Large subunit mitochondrial ribosomal proteins|Mitochondrial ribosomal proteins

Basic information

Region (hg38): 11:6680385-6683340

Links

ENSG00000158042 ∙ NCBI:63875 ∙ OMIM:611830 ∙ HGNC:14053 ∙ Uniprot:Q9NRX2 ∙ 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 MRPL17 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MRPL17 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			17	1		18
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	17	2	0

Variants in MRPL17

This is a list of pathogenic ClinVar variants found in the MRPL17 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-6682132-T-G		not specified	Uncertain significance (Sep 07, 2022)
11-6682157-G-C		not specified	Uncertain significance (Sep 16, 2021)
11-6682238-A-T			Likely benign (Mar 01, 2024)
11-6682263-T-C		not specified	Uncertain significance (Dec 25, 2024)
11-6682276-C-T		not specified	Uncertain significance (Oct 07, 2024)
11-6682277-G-C		not specified	Uncertain significance (Nov 10, 2024)
11-6682296-C-T		not specified	Uncertain significance (Dec 21, 2023)
11-6682332-G-C		not specified	Uncertain significance (Mar 30, 2024)
11-6682338-C-T		not specified	Uncertain significance (Feb 07, 2023)
11-6682339-C-T		not specified	Uncertain significance (May 20, 2024)
11-6682354-T-C		not specified	Uncertain significance (Mar 11, 2025)
11-6682375-G-T		not specified	Likely benign (Jan 01, 2025)
11-6682782-C-T		not specified	Uncertain significance (Mar 07, 2025)
11-6682814-A-G		not specified	Uncertain significance (Apr 09, 2024)
11-6683133-T-C		not specified	Uncertain significance (May 16, 2024)
11-6683161-A-G		not specified	Uncertain significance (Aug 14, 2024)
11-6683178-T-C		not specified	Uncertain significance (Feb 17, 2024)
11-6683208-C-T		not specified	Uncertain significance (Feb 03, 2022)
11-6683223-C-T		not specified	Uncertain significance (Dec 23, 2024)
11-6683245-T-A		not specified	Likely benign (Jan 19, 2022)
11-6683245-T-C		not specified	Uncertain significance (Feb 21, 2025)
11-6683264-A-T		not specified	Uncertain significance (Feb 23, 2023)
11-6683265-T-C		not specified	Uncertain significance (Dec 05, 2022)
11-6683274-G-A		not specified	Uncertain significance (May 02, 2024)
11-6683293-G-A		not specified	Uncertain significance (Nov 10, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MRPL17	protein_coding	protein_coding	ENST00000288937	3	2620

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0282	0.812	125738	0	7	125745	0.0000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.281	116	108	1.08	0.00000523	1133
Missense in Polyphen		55	52.022	1.0572		538
Synonymous	-0.968	51	42.9	1.19	0.00000196	371
Loss of Function	1.08	3	5.79	0.518	2.54e-7	66

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000617	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000353	0.0000352
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.000167	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: 0.130

Intolerance Scores

• loftool: 0.293
• rvis_EVS: 0.08
• rvis_percentile_EVS: 59.76

Haploinsufficiency Scores

• pHI: 0.100
• hipred: Y
• hipred_score: 0.800
• ghis: 0.594

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.821

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mrpl17

Gene ontology

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