MRPL27

mitochondrial ribosomal protein L27, the group of Large subunit mitochondrial ribosomal proteins|Mitochondrial ribosomal proteins

Basic information

Region (hg38): 17:50367857-50373207

Links

ENSG00000108826 ∙ NCBI:51264 ∙ OMIM:611837 ∙ HGNC:14483 ∙ Uniprot:Q9P0M9 ∙ 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 MRPL27 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MRPL27 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			11			11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	11	0	0

Variants in MRPL27

This is a list of pathogenic ClinVar variants found in the MRPL27 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-50368142-C-T		not specified	Uncertain significance (May 11, 2022)
17-50368234-T-A		not specified	Uncertain significance (Oct 12, 2021)
17-50368255-C-T		not specified	Uncertain significance (Oct 16, 2023)
17-50368292-C-A		not specified	Uncertain significance (Jun 02, 2023)
17-50370093-T-C		not specified	Uncertain significance (Oct 27, 2023)
17-50370094-A-C		not specified	Uncertain significance (May 20, 2024)
17-50370500-C-T		not specified	Uncertain significance (Dec 03, 2021)
17-50370529-T-C		not specified	Uncertain significance (Feb 06, 2024)
17-50370554-C-T		not specified	Uncertain significance (Jul 09, 2021)
17-50370556-G-A		not specified	Uncertain significance (Jan 23, 2023)
17-50373152-C-A		not specified	Uncertain significance (Sep 12, 2023)
17-50373152-C-T		not specified	Uncertain significance (May 05, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MRPL27	protein_coding	protein_coding	ENST00000225969	4	5358

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.502	0.480	125741	0	6	125747	0.0000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.539	106	91.5	1.16	0.00000516	933
Missense in Polyphen		29	29.501	0.983		343
Synonymous	-0.00699	37	36.9	1.00	0.00000223	320
Loss of Function	1.91	1	6.08	0.165	2.56e-7	80

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000120	0.000119
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000177	0.0000176
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
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: 0.111

Intolerance Scores

• loftool: 0.488
• rvis_EVS: -0.09
• rvis_percentile_EVS: 46.74

Haploinsufficiency Scores

• pHI: 0.217
• hipred: Y
• hipred_score: 0.610
• ghis: 0.555

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: N
• gene_indispensability_score: 2.22e-16

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mrpl27

Gene ontology

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