MPC1L

mitochondrial pyruvate carrier 1 like, the group of Solute carrier family 54, mitochondrial pyruvate carriers

Basic information

Region (hg38): X:40623428-40624136

Links

ENSG00000238205

∙ NCBI:347411 ∙ ∙ HGNC:44205 ∙ Uniprot:P0DKB6 ∙ 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 MPC1L gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MPC1L 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			1 clinvar			1
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	1	0	0

Variants in MPC1L

This is a list of pathogenic ClinVar variants found in the MPC1L region.

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

Position	Type	Phenotype	Significance	ClinVar
X-40623593-A-C		not specified	Conflicting classifications of pathogenicity (Feb 01, 2023)	2255444
X-40623602-G-A		not specified	Uncertain significance (Aug 09, 2021)	2411958

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Gene ontology

Biological process: mitochondrial pyruvate transmembrane transport
Cellular component: integral component of mitochondrial inner membrane
Molecular function: pyruvate transmembrane transporter activity