Overview

Variant ID 15006
Entrez Gene ID 84441
Gene MAML2 (GeneCards)
Location hg19 11:95867323-95867323
hg38 11:96134159-96134159
Disease Asymptomatic
Method HiSeq X Ten
Mutation(HGVS format) NC_000011.9:g.95867323 C>T (Genome Assembly: GRCh37)

Other information

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 135006516

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.2524
CADD Raw score (version 1.3) -0.132632 (Deleterious)
FATHMM raw prediction score 0.10699 (Tolerated)
Deleterious probability by DeFine 0.4661 (Neutral)
Entrez Gene ID 84441 (NCBI Gene)
Official Gene Symbol MAML2 (GeneCards)
Number of variants in MAML2 in this database 7 (view all the variants)
Full name mastermind like transcriptional coactivator 2
Band 11q21
Other IDs Vega: OTTHUMG00000167677
OMIM: 607537
HGNC: HGNC:16259
Ensembl: ENSG00000184384
Other names MAM2, MAM3, MAM-3, MLL-MAML2
Summary The protein encoded by this gene is a member of the Mastermind-like family of proteins. All family members are proline and glutamine-rich, and contain a conserved basic domain that binds the ankyrin repeat domain of the intracellular domain of the Notch receptors (ICN1-4) in their N-terminus, and a transcriptional activation domain in their C-terminus. This protein binds to an extended groove that is formed by the interaction of CBF1, Suppressor of Hairless, LAG-1 (CSL) with ICN, and positively regulates Notch signaling. High levels of expression of this gene have been observed in several B cell-derived lymphomas. Translocations resulting in fusion proteins with both CRTC1 and CRTC3 have been implicated in the development of mucoepidermoid carcinomas, while a translocation event with CXCR4 has been linked with chronic lymphocytic leukemia (CLL). Copy number variation in the polyglutamine tract has been observed. [provided by RefSeq, Jan 2015]

Individual #1

Individual ID 29217584.02 (view all the variants in this individual)
Pubmed ID 29217584
Whose mosaic mutation Normal  
Phenotype 1  
Disease Asymptomatic
OMIM ID

Publication #1: 29217584

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;