PRSS57

serine protease 57, the group of Serine proteases|Granule associated serine proteases of immune defence

Basic information

Region (hg38): 19:685546-695498

Previous symbols: [ "PRSSL1" ]

Links

ENSG00000185198 ∙ NCBI:400668 ∙ ∙ HGNC:31397 ∙ Uniprot:Q6UWY2 ∙ 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 PRSS57 gene.

• not_specified (72 variants)
• not_provided (1 variants)
• Long_QT_syndrome (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PRSS57 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001308209.2. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			65	8		73
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	65	9	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PRSS57	protein_coding	protein_coding	ENST00000329267	5	9940

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000283	0.342	125094	2	564	125660	0.00225

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.607	177	156	1.14	0.0000105	1734
Missense in Polyphen		69	56.949	1.2116		639
Synonymous	-1.51	88	71.8	1.23	0.00000517	626
Loss of Function	0.0978	7	7.28	0.961	4.71e-7	79

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00250	0.00249
Ashkenazi Jewish	0.000398	0.000397
East Asian	0.000275	0.000272
Finnish	0.000749	0.000740
European (Non-Finnish)	0.00394	0.00391
Middle Eastern	0.000275	0.000272
South Asian	0.0000673	0.0000653
Other	0.00363	0.00359

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Serine protease that cleaves preferentially after Arg residues (PubMed:22474388, PubMed:23904161, PubMed:25156428). Can also cleave after citrulline (deimidated arginine) and methylarginine residues (PubMed:25156428). {ECO:0000269|PubMed:22474388, ECO:0000269|PubMed:23904161, ECO:0000269|PubMed:25156428}.

Recessive Scores

• pRec: 0.120

Intolerance Scores

• rvis_EVS: -0.38
• rvis_percentile_EVS: 28.11

Haploinsufficiency Scores

• pHI: 0.134
• hipred: N
• hipred_score: 0.146
• ghis: 0.420

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Prss57

Gene ontology

• Biological process: proteolysis
• Cellular component: extracellular space;azurophil granule lumen
• Molecular function: serine-type endopeptidase activity;heparin binding;serine-type peptidase activity