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PRSS8 (Prostasin)
FEATURES
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FAMILY
DESCRIPTION
Also known as PRSS8_HUMAN, PRSS8. Possesses a trypsin-like cleavage specificity with a preference for poly-basic substrates. Stimulates epithelial sodium channel (ENaC) activity through activating cleavage of the gamma subunits (SCNN1G). Heterodimer of two chains, light and heavy, held by a disulfide bond.
Also known as PRSS8_HUMAN, PRSS8. Possesses a trypsin-like cleavage specificity with a preference for poly-basic substrates. Stimulates epithelial sodium channel (ENaC) activity through activating cleavage of the gamma subunits (SCNN1G). Heterodimer of two chains, light and heavy, held by a disulfide bond.

Mutations

FILTERS

Mutation(s) distribution

Mutations table

Study NameMutation TypeSeveritySeq. Cons. ScorePrediction scorePositionAmino acid changeTCGA Patient ID
Colon (COAD) Frameshift variant HIGH 0% 0% 295 Gln295fs TCGA-F4-6570
Liver (LIHC) Missense variant MODERATE 96.6% 61.5% 289 Gln289Lys TCGA-2Y-A9GY
Colon (COAD) Missense variant MODERATE 100% 99.4% 281 Ile281Val TCGA-AA-A010
Uterine endometrial (UCEC) Missense variant MODERATE 100% 98.7% 271 Tyr271Cys TCGA-EY-A1GU
Uterine endometrial (UCEC) Missense variant MODERATE 100% 97.8% 268 Pro268Ser TCGA-AX-A2HD
Colon (COAD) Missense variant MODERATE 100% 97.8% 268 Pro268Ser TCGA-G4-6309
Uterine endometrial (UCEC) Missense variant MODERATE 0.6% 90.6% 233 Ala233Thr TCGA-AP-A051
Colon (COAD) Missense variant MODERATE 100% 96.9% 224 Ala224Val TCGA-A6-2686
Breast (BRCA) Missense variant MODERATE 99.3% 91.8% 222 Val222Gly TCGA-BH-A0HA
Uterine endometrial (UCEC) Missense variant MODERATE 0% 58% 212 Glu212Asp TCGA-B5-A1MX