| Variant ID | 32081 |
|---|---|
| Entrez Gene ID | 8085 |
| Gene | MLL2 (GeneCards) |
| Location | hg19 12:49445224-49445224
hg38 12:49051441-49051441 |
| Disease | Asymptomatic |
| Method | NGS gene panel |
| Mutation(HGVS format) | NC_000012.11:g.49445224 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 748 |
| Amino acid changes in protein | E > K |
| Position in cDNA | 2242 |
| Changes in cDNA | G > A |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.4451 |
| CADD Raw score (version 1.3) | 1.693519 (Deleterious) |
| FATHMM raw prediction score | 0.92487 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| MutationTaster score | 0.998 (Tolerated) |
| MutatioinAssessor score | 0.805 (Tolerated) |
| PROVEAN score | -0.53 (Tolerated) |
| MetaSVM score | -1.031 (Tolerated) |
| MetaLR score | 0.051 (Tolerated) |
| MCAP score | 0.061 (Deleterious) |
| FitCons score | 0.563 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 2.72 |
| PhyloP score based on multiple alignment of 100 vertebrates | 2.17 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.033 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 5.789 |
| Deleterious probability by iFish2 | 0.0278 (Neutral) |
| Deleterious probability by DeFine | 0.9217 (Deleterious) |
| Entrez Gene ID | 8085 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MLL2 (GeneCards) |
| Number of variants in KMT2D in this database | 107 (view all the variants) |
| Full name | lysine methyltransferase 2D |
| Band | 12q13.12 |
| Other IDs | Vega: OTTHUMG00000166524 OMIM: 602113 HGNC: HGNC:7133 Ensembl: ENSG00000167548 |
| Other names | ALR, KMS, MLL2, MLL4, AAD10, KABUK1, TNRC21, CAGL114 |
| Summary | The protein encoded by this gene is a histone methyltransferase that methylates the Lys-4 position of histone H3. The encoded protein is part of a large protein complex called ASCOM, which has been shown to be a transcriptional regulator of the beta-globin and estrogen receptor genes. Mutations in this gene have been shown to be a cause of Kabuki syndrome. [provided by RefSeq, Oct 2010] |
| Individual ID | 25999502.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 25999502 |
| Whose mosaic mutation | Normal |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 25999502 |
|---|---|
| Title | High burden and pervasive positive selection of somatic mutations in normal human skin |
| Journal | Science |
| Publication date | 2015.05 |
| Disease | Asymptomatic |
| Number of cases | Male cases: 1; Female cases: 3; |