PRSS51

serine protease 51

Basic information

Region (hg38): 8:10482877-10547585

Links

ENSG00000253649 ∙ NCBI:346702 ∙ ∙ HGNC:37321 ∙ Uniprot:A0A1B0GVH4 ∙ 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 PRSS51 gene.

• Inborn genetic diseases (27 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PRSS51 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			23	4	1	28
Total	0	0	23	4	1

Variants in PRSS51

This is a list of pathogenic ClinVar variants found in the PRSS51 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-10525646-C-T		not specified	Likely benign (Feb 09, 2023)
8-10525661-G-A		not specified	Uncertain significance (Jan 11, 2023)
8-10525688-G-A		not specified	Uncertain significance (Jan 31, 2022)
8-10525712-C-A		not specified	Uncertain significance (Dec 21, 2022)
8-10525728-G-T		not specified	Uncertain significance (Oct 06, 2023)
8-10529509-T-C		not specified	Uncertain significance (Apr 05, 2023)
8-10529524-A-G		not specified	Uncertain significance (Oct 03, 2022)
8-10529542-C-T		not specified	Uncertain significance (Dec 21, 2022)
8-10529558-C-T		not specified	Likely benign (Dec 13, 2023)
8-10529610-G-C		not specified	Uncertain significance (Jan 04, 2022)
8-10529658-G-C		not specified	Uncertain significance (Jul 19, 2023)
8-10529662-C-G		not specified	Likely benign (Dec 18, 2023)
8-10529669-C-T		not specified	Uncertain significance (Jan 06, 2023)
8-10529695-C-G		not specified	Uncertain significance (Oct 12, 2021)
8-10531314-G-A		not specified	Uncertain significance (Jul 25, 2023)
8-10531328-C-T		not specified	Likely benign (Jul 12, 2023)
8-10531329-G-A		not specified	Uncertain significance (Apr 17, 2023)
8-10531354-T-C		not specified	Uncertain significance (May 04, 2022)
8-10531386-G-A		not specified	Uncertain significance (Aug 01, 2022)
8-10531413-G-A		not specified	Uncertain significance (Sep 16, 2021)
8-10531483-C-G		not specified	Likely benign (Dec 19, 2022)
8-10531503-T-C		not specified	Uncertain significance (Aug 14, 2023)
8-10531507-G-A		not specified	Likely benign (Jan 24, 2024)
8-10532947-A-G		not specified	Uncertain significance (Dec 27, 2023)
8-10532957-T-A		not specified	Uncertain significance (Nov 06, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Mouse Genome Informatics

• Gene name: Prss51

Gene ontology

• Biological process: proteolysis
• Cellular component: extracellular region
• Molecular function: serine-type endopeptidase activity