| Variant ID | 8049 |
|---|---|
| Entrez Gene ID | 5066 |
| Gene | PAM (GeneCards) |
| Location | hg19 5:102390138-102390138
hg38 5:103054434-103054434 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.102390138 C>T (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0.00009709 |
|---|---|
| EIGEN score | -0.3541 |
| CADD Raw score (version 1.3) | -0.326625 (Deleterious) |
| FATHMM raw prediction score | 0.07055 (Tolerated) |
| Deleterious probability by DeFine | 0.0982 (Neutral) |
| Entrez Gene ID | 5066 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PAM (GeneCards) |
| Number of variants in PAM in this database | 4 (view all the variants) |
| Full name | peptidylglycine alpha-amidating monooxygenase |
| Band | 5q21.1 |
| Other IDs | Vega: OTTHUMG00000128729 OMIM: 170270 HGNC: HGNC:8596 Ensembl: ENSG00000145730 |
| Other names | PAL, PHM |
| Summary | This gene encodes a multifunctional protein. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme includes two domains with distinct catalytic activities, a peptidylglycine alpha-hydroxylating monooxygenase (PHM) domain and a peptidyl-alpha-hydroxyglycine alpha-amidating lyase (PAL) domain. These catalytic domains work sequentially to catalyze the conversion of neuroendocrine peptides to active alpha-amidated products. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016] |
| Individual ID | 29217584.10 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |