PHYKPL
5-phosphohydroxy-L-lysine phospho-lyase
Summary
This is a nuclear gene encoding a mitochondrial enzyme that catalyzes the conversion of 5-phosphonooxy-L-lysine to ammonia, inorganic phosphate, and 2-aminoadipate semialdehyde. Mutations in this gene may cause phosphohydroxylysinuria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
Known Variants54 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1758576859 | 5:177,638,945 | C/G | — | likely benign |
| rs374048479 | 5:177,638,960 | T/C | — | uncertain significance |
| rs142181517 | 5:177,638,965 | T/A | missense variant | uncertain significance |
| rs1459168861 | 5:177,640,009 | C/T | — | likely benign |
| rs141523394 | 5:177,640,034 | T/C | missense variant | — |
| rs150722124 | 5:177,640,044 | A/T | — | uncertain significance |
| rs377596425 | 5:177,640,076 | T/C | — | uncertain significance |
| rs764115696 | 5:177,640,088 | C/T | — | likely benign |
| rs149960850 | 5:177,640,101 | C/T | — | likely benign |
| rs574385462 | 5:177,641,194 | G/A | — | — |
| rs762658037 | 5:177,641,813 | C/A | — | uncertain significance |
| rs1158844295 | 5:177,641,855 | T/A | — | uncertain significance |
| rs142385761 | 5:177,641,870 | T/C | — | uncertain significance |
| rs148658218 | 5:177,642,291 | G/A | — | likely benign |
| rs200496449 | 5:177,642,317 | C/T | — | likely benign |
| rs1422157626 | 5:177,642,323 | G/A | — | uncertain significance |
| rs375319327 | 5:177,642,392 | C/T | — | uncertain significance |
| rs767643005 | 5:177,642,412 | G/A | — | uncertain significance |
| rs41285579 | 5:177,649,103 | A/G | — | — |
| rs367908733 | 5:177,649,376 | C/T | — | uncertain significance |
| rs1404301247 | 5:177,649,412 | C/T | — | likely benign |
| rs775663443 | 5:177,649,486 | C/T | — | uncertain significance |
| rs373675466 | 5:177,649,523 | G/C | — | uncertain significance |
| rs201105857 | 5:177,649,565 | C/T | missense variant | pathogenic |
| rs765616846 | 5:177,649,573 | C/A | — | uncertain significance |
| rs150108455 | 5:177,649,697 | G/A | intron variant | — |
| rs2481271707 | 5:177,649,871 | T/C | — | uncertain significance |
| rs1437953201 | 5:177,649,896 | C/G | — | uncertain significance |
| rs142142484 | 5:177,649,920 | C/T | — | benign |
| rs747644101 | 5:177,651,471 | C/T | — | uncertain significance |
| rs770515263 | 5:177,651,483 | C/T | — | uncertain significance |
| rs2481347362 | 5:177,651,517 | T/C | — | uncertain significance |
| rs781248682 | 5:177,651,531 | C/T | — | uncertain significance |
| rs144422984 | 5:177,651,549 | G/A | — | uncertain significance |
| rs765675443 | 5:177,651,564 | G/A | — | uncertain significance |
| rs377115731 | 5:177,651,571 | G/A | — | likely benign |
| rs757976712 | 5:177,651,678 | G/A | — | uncertain significance |
| rs778310121 | 5:177,651,683 | T/A | — | uncertain significance |
| rs1277946517 | 5:177,651,705 | G/C | — | uncertain significance |
| rs114298500 | 5:177,651,727 | C/T | — | likely benign |
| rs761596988 | 5:177,651,728 | G/A | — | uncertain significance |
| rs779542059 | 5:177,652,357 | G/A | — | uncertain significance |
| rs7707147 | 5:177,652,392 | T/C | — | benign |
| rs537640263 | 5:177,652,395 | C/T | — | uncertain significance |
| rs773672222 | 5:177,652,396 | G/A | — | uncertain significance |
| rs1763056159 | 5:177,656,997 | C/G | — | uncertain significance |
| rs758290941 | 5:177,657,031 | C/T | — | uncertain significance |
| rs2481546198 | 5:177,657,086 | G/A | — | uncertain significance |
| rs770344067 | 5:177,658,477 | C/T | — | uncertain significance |
| rs3749806 | 5:177,659,429 | C/A | regulatory region variant | — |
| rs771837153 | 5:177,659,494 | T/C | — | uncertain significance |
| rs764678839 | 5:177,659,503 | G/A | — | uncertain significance |
| rs116735771 | 5:177,659,519 | C/G | — | benign |
| rs1355387113 | 5:177,659,529 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.