PRSS57

protein-coding

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

Gene summary

This gene encodes an arginine-specific serine protease and member of the peptidase S1 family of proteins. The encoded protein may undergo proteolytic activation before storage in azurophil granules, in neutrophil cells of the immune system. Following neutrophil activation, the protease is released into the pericellular environment, where it may play a role in defense against microbial pathogens. [provided by RefSeq, Jul 2016]

Previous symbols:

PRSSL1

MANE transcript

NM_001308209.2

Inheritance

—

ClinVar variants

U:72B:9

Top phenotype

Long QT syndrome

gnomAD constraint

pLI —, LoF o/e 0.96

Max pathogenic AF

—

Genomic locus

chr19:685,546-695,498

External References & Databases

Ensembl (ENSG00000185198)

Transcript & Mutation Effects

hg38 • Region Span ~10.0 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to PRSS57 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 78

not providedTotal: 1

Long QT syndromeTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001308209.2. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar		1
missense			72 clinvar	8 clinvar		80
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	72	9	0	81

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 5 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001308209.2	RefSeq	NP_001295138.2	5	MANE Select
ENST00000329267.9	Ensembl	ENSP00000327386.6	5	MANE Select
NM_214710.5	RefSeq	NP_999875.2	5	Standard
ENST00000613411.4	Ensembl	ENSP00000482358.1	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

proteolysis

Molecular Function

serine-type endopeptidase activity
heparin binding
serine-type peptidase activity

Cellular Component

extracellular space
azurophil granule lumen

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000329267
Coding exons: 5
Length: 9940
Individuals with no LoFs: 125094
Homozygous LoFs: 2
Heterozygous LoFs: 564
Defined: 125660
p: 0.00225

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.607	177	156	1.14	0.0000105	1734
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00063	0.00062	rare
Latino/Admixed American	0.0019	0.0019	notable
Ashkenazi Jewish	0.00040	0.00040	rare
East Asian	0.00028	0.00027	rare
Finnish	0.00075	0.00074	rare
European (Non-Finnish)	0.0039	0.0039	notable
South Asian	0.000067	0.000065	rare
Other	0.0036	0.0036	notable

dbNSFP Gene Annotations

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

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

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