PRH1

Chr 12

proline rich protein HaeIII subfamily 1

Also known as: Db-s, PA, PIF-S, PRP-1/PRP-2, Pr1/Pr2

This gene encodes a member of the heterogeneous family of proline-rich salivary glycoproteins. The encoded preproprotein undergoes proteolytic processing to generate one or more mature isoforms before secretion from the parotid and submandibular/sublingual glands. Multiple distinct alleles of this locus including the parotid isoelectric-focusing variant slow (PIF-s), the parotid acidic protein (Pa), and the double band slow (Db-s) isoforms have been characterized. The reference genome encodes the Db-s allele. Certain alleles of this gene are associated with susceptibility to dental caries. This gene is located in a cluster of closely related salivary proline-rich proteins on chromosome 12. Co-transcription of this gene with adjacent genes has been observed. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2015]

OMIMResearchGenerating clinical summary…
0
Active trials
Pubs (1 yr)
P/LP submissions
P/LP missense
1.36
LOEUF
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.36LOEUF
pLI 0.007
Z-score 0.95
OE 0.60 (0.291.36)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.69Z-score
OE missense 0.79 (0.660.97)
72 obs / 90.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.60 (0.291.36)
00.351.4
Missense OE?0.79 (0.660.97)
00.61.4
Synonymous OE?0.89
01.21.6
LoF obs/exp: 4 / 6.7Missense obs/exp: 72 / 90.6Syn Z: 0.48

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

PRH1 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →