PRSS41

serine protease 41, the group of Serine proteases

Basic information

Region (hg38): 16:2798470-2805304

Links

ENSG00000215148

∙ NCBI:360226 ∙ ∙ HGNC:30715 ∙ Uniprot:Q7RTY9 ∙ 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 PRSS41 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PRSS41 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			3 clinvar			3
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	3	0	0

Variants in PRSS41

This is a list of pathogenic ClinVar variants found in the PRSS41 region.

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

Position	Phenotype	Significance	ClinVar
16-2799371-C-A	not specified	Uncertain significance (Aug 12, 2021)	2366228
16-2799483-C-G	not specified	Uncertain significance (Oct 12, 2021)	2254785
16-2804482-G-A	not specified	Uncertain significance (Jul 15, 2021)	2355480

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Pathway: Post-translational modification: synthesis of GPI-anchored proteins;Post-translational protein modification;Metabolism of proteins (Consensus)

Mouse Genome Informatics

Gene name: Prss41
Phenotype

Gene ontology

Biological process: proteolysis
Cellular component: extracellular region;plasma membrane;anchored component of membrane;intracellular organelle
Molecular function: serine-type endopeptidase activity