PRSS35

Chr 6

serine protease 35

Also known as: C6orf158, dJ223E3.1

PRSS35 encodes a serine protease predicted to function in the extracellular space. Mutations cause autosomal recessive intellectual disability with seizures and brain abnormalities. The gene shows tolerance to loss-of-function variants, consistent with a recessive inheritance pattern.

OMIMResearchSummary from RefSeq
LOEUF 1.66
Clinical SummaryPRSS35
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.66LOEUF
pLI 0.000
Z-score -0.26
OE 1.08 (0.711.66)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.27Z-score
OE missense 1.05 (0.951.17)
253 obs / 241.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE1.08 (0.711.66)
00.351.4
Missense OE1.05 (0.951.17)
00.61.4
Synonymous OE0.94
01.21.6
LoF obs/exp: 14 / 13.0Missense obs/exp: 253 / 241.1Syn Z: 0.42

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

PRSS35 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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