PRH1
proline rich protein HaeIII subfamily 1
Summary
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]
Known Variants45 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs199688055 | 12:11,034,853 | T/C | — | likely benign |
| rs137971763 | 12:11,034,871 | C/T | — | benign |
| rs375583668 | 12:11,034,979 | C/T | — | uncertain significance |
| rs61914782 | 12:11,034,980 | G/A | — | benign |
| rs372138349 | 12:11,034,986 | G/A | — | uncertain significance |
| rs373280058 | 12:11,035,040 | C/T | — | uncertain significance |
| rs772146716 | 12:11,035,050 | G/C | — | likely benign |
| rs372677799 | 12:11,035,261 | C/A | — | uncertain significance |
| rs1298570768 | 12:11,035,294 | C/G | — | uncertain significance |
| rs35891122 | 12:11,035,503 | C/T | intron variant | — |
| rs147169232 | 12:11,036,403 | C/T | intron variant | — |
| rs7137492 | 12:11,040,330 | T/C | upstream gene variant | — |
| rs10772383 | 12:11,049,651 | G/A | upstream gene variant | — |
| rs11054069 | 12:11,058,117 | T/A | — | — |
| rs1015443 | 12:11,061,122 | T/A | missense variant | — |
| rs140085016 | 12:11,064,944 | G/A | upstream gene variant | — |
| rs7398041 | 12:11,067,524 | G/A | intron variant | — |
| rs7298262 | 12:11,079,262 | C/G | — | — |
| rs1049112 | 12:11,083,356 | A/T | missense variant | — |
| rs187308745 | 12:11,088,620 | G/A | downstream gene variant | — |
| rs145395246 | 12:11,091,927 | G/T | upstream gene variant | — |
| rs76378949 | 12:11,093,913 | G/A | upstream gene variant | — |
| rs527449834 | 12:11,095,336 | A/G | — | — |
| rs117355950 | 12:11,132,608 | A/G | intron variant | — |
| rs1376251 | 12:11,138,852 | C/T | missense variant | — |
| rs10845271 | 12:11,143,801 | C/T | upstream gene variant | — |
| rs7311652 | 12:11,163,849 | G/A | intron variant | — |
| rs563262154 | 12:11,170,728 | G/A | — | — |
| rs10772420 | 12:11,174,276 | G/A | missense variant | — |
| rs12424373 | 12:11,174,795 | T/G | missense variant | — |
| rs551349545 | 12:11,196,836 | C/A | — | — |
| rs2708377 | 12:11,216,315 | C/T | upstream gene variant | — |
| rs111644153 | 12:11,223,018 | G/A | — | — |
| rs115081383 | 12:11,233,101 | G/A | upstream gene variant | — |
| rs117759736 | 12:11,240,548 | A/G | downstream gene variant | — |
| rs118074127 | 12:11,245,183 | A/C | upstream gene variant | — |
| rs143095582 | 12:11,249,459 | C/A | — | — |
| rs36175327 | 12:11,255,674 | C/A | intron variant | — |
| rs61912110 | 12:11,255,797 | A/C | intron variant | — |
| rs1031391 | 12:11,279,092 | C/G | intron variant | — |
| rs547788288 | 12:11,282,384 | T/C | — | — |
| rs184694925 | 12:11,289,072 | T/C | upstream gene variant | — |
| rs147275147 | 12:11,296,319 | A/G | intron variant | — |
| rs181962206 | 12:11,303,134 | T/C | intron variant | — |
| rs2123007 | 12:11,322,501 | A/C | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.