| Variant ID | 29773 |
|---|---|
| Entrez Gene ID | 5066 |
| Gene | PAM (GeneCards) |
| Location | hg19 5:102295584-102295584
hg38 5:102959880-102959880 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000005.9:g.102295584 C>G (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| 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 |
|---|---|
| EIGEN score | 0.8865 |
| CADD Raw score (version 1.3) | 6.885818 (Deleterious) |
| FATHMM raw prediction score | 0.95657 (Tolerated) |
| SIFT score | 0.002 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 3.11 (Deleterious) |
| PROVEAN score | -4.05 (Deleterious) |
| MetaSVM score | 0.55 (Deleterious) |
| MetaLR score | 0.699 (Deleterious) |
| MCAP score | 0.451 (Deleterious) |
| FitCons score | 0.757 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.43 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.568 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 19.255 |
| Deleterious probability by iFish2 | 0.995 (Deleterious) |
| Deleterious probability by DeFine | 0.9658 (Deleterious) |
| 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 | 28867142.35 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |