PCMT1
protein-L-isoaspartate (D-aspartate) O-methyltransferase
Summary
This gene encodes a member of the type II class of protein carboxyl methyltransferase enzymes. The encoded enzyme plays a role in protein repair by recognizing and converting D-aspartyl and L-isoaspartyl residues resulting from spontaneous deamidation back to the normal L-aspartyl form. The encoded protein may play a protective role in the pathogenesis of Alzheimer's disease, and single nucleotide polymorphisms in this gene have been associated with spina bifida and premature ovarian failure. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]
Known Variants32 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs758763218 | 6:150,070,897 | G/T | — | uncertain significance |
| rs1176617483 | 6:150,070,899 | C/A | — | uncertain significance |
| rs564771067 | 6:150,070,931 | C/T | — | uncertain significance |
| rs372025363 | 6:150,071,031 | C/G | — | uncertain significance |
| rs9479808 | 6:150,072,464 | A/G | — | — |
| rs10872649 | 6:150,080,590 | T/G | intron variant | — |
| rs539700294 | 6:150,084,184 | G/C | — | — |
| rs9689694 | 6:150,091,773 | C/T | intron variant | — |
| rs9688867 | 6:150,091,912 | A/G | intron variant | — |
| rs374534669 | 6:150,092,351 | C/T | missense variant | — |
| rs116912868 | 6:150,095,097 | T/C | intron variant | — |
| rs10872653 | 6:150,100,043 | A/T | — | — |
| rs55763431 | 6:150,100,805 | G/T | — | — |
| rs12174588 | 6:150,106,379 | T/C | intron variant | — |
| rs12178835 | 6:150,107,248 | G/C | — | — |
| rs60171724 | 6:150,107,914 | C/T | — | — |
| rs28740897 | 6:150,108,141 | G/A | — | — |
| rs12182786 | 6:150,108,981 | A/C | — | — |
| rs9688809 | 6:150,109,056 | C/T | intron variant | — |
| rs9689025 | 6:150,110,622 | C/G | — | — |
| rs4816 | 6:150,114,745 | G/A | missense variant | — |
| rs2482617000 | 6:150,114,770 | C/A | — | uncertain significance |
| rs771551236 | 6:150,114,773 | C/T | — | uncertain significance |
| rs1562421869 | 6:150,117,593 | A/G | — | uncertain significance |
| rs376806476 | 6:150,123,357 | G/A | missense variant | — |
| rs530006864 | 6:150,123,446 | G/T | — | uncertain significance |
| rs372615350 | 6:150,123,470 | C/T | — | likely benign |
| rs4870015 | 6:150,124,019 | G/C | — | — |
| rs75672805 | 6:150,125,290 | A/G | intron variant | — |
| rs2095375 | 6:150,128,173 | C/A | intron variant | — |
| rs7818 | 6:150,132,092 | A/T | — | — |
| rs4552 | 6:150,132,319 | A/T | 3 prime UTR variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.