PRSS3

serine protease 3, the group of Serine proteases

Basic information

Region (hg38): 9:33750679-33799231

Previous symbols: [ "PRSS4" ]

Links

ENSG00000010438 ∙ NCBI:5646 ∙ OMIM:613578 ∙ HGNC:9486 ∙ Uniprot:P35030 ∙ 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 PRSS3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PRSS3 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					2	2
nonsense						0
start loss						0
frameshift						0
inframe indel					1	1
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			1		7	8
Total	0	0	1	0	11

Variants in PRSS3

This is a list of pathogenic ClinVar variants found in the PRSS3 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-33750750-G-T			Benign (Jun 14, 2019)
9-33750847-G-C			Benign (Jun 15, 2019)
9-33751017-C-A			Benign (Jun 15, 2019)
9-33794842-G-A			Benign (Aug 15, 2019)
9-33796676-T-C		Thyroiditis	Uncertain significance (-)
9-33796692-TGAG-T			Benign (Aug 15, 2019)
9-33796914-A-G			Benign (Aug 15, 2019)
9-33797058-A-T			Benign (Aug 15, 2019)
9-33797763-G-A			Benign (Aug 15, 2019)
9-33797763-G-T			Benign (Aug 15, 2019)
9-33798019-A-G			Benign (Jan 17, 2024)
9-33798840-T-C			Benign (Aug 15, 2019)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PRSS3	protein_coding	protein_coding	ENST00000361005	5	48716

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.56e-12	0.00659	125716	0	32	125748	0.000127

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0348	159	158	1.01	0.00000923	1909
Missense in Polyphen		59	53.283	1.1073		676
Synonymous	1.44	50	64.7	0.772	0.00000401	613
Loss of Function	-1.24	15	10.6	1.41	5.46e-7	128

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000583	0.000583
Ashkenazi Jewish	0.00	0.00
East Asian	0.000544	0.000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000880	0.0000879
Middle Eastern	0.000544	0.000544
South Asian	0.0000653	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Digestive protease that cleaves proteins preferentially after an Arg residue and has proteolytic activity toward Kunitz- type trypsin inhibitors. {ECO:0000269|PubMed:11827488, ECO:0000269|PubMed:14507909, ECO:0000269|PubMed:18077447, ECO:0000269|PubMed:25301953, ECO:0000269|PubMed:27810896, ECO:0000269|PubMed:9099703}.
• Pathway: Influenza A - Homo sapiens (human);Protein digestion and absorption - Homo sapiens (human);Pancreatic secretion - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);Neutrophil degranulation;Antimicrobial peptides;Innate Immune System;Immune System;Alpha-defensins;Defensins (Consensus)

Recessive Scores

• pRec: 0.851

Intolerance Scores

• loftool: 0.152
• rvis_EVS: -0.14
• rvis_percentile_EVS: 43.29

Haploinsufficiency Scores

• pHI: 0.289
• hipred: N
• hipred_score: 0.327
• ghis: 0.423

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.704

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Try5

Gene ontology

• Biological process: proteolysis;digestion;cobalamin metabolic process;antimicrobial humoral response;zymogen activation;neutrophil degranulation;endothelial cell migration
• Cellular component: extracellular region;extracellular space;tertiary granule lumen
• Molecular function: serine-type endopeptidase activity;calcium ion binding;protein binding;serine-type peptidase activity