| Variant ID | 29772 |
|---|---|
| Entrez Gene ID | 4437 |
| Gene | MSH3 (GeneCards) |
| Location | hg19 5:80169078-80169078
hg38 5:80873259-80873259 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000005.9:g.80169078 G>A (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 | 0.6971 |
| CADD Raw score (version 1.3) | 7.414002 (Deleterious) |
| FATHMM raw prediction score | 0.98106 (Tolerated) |
| SIFT score | 0.041 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 0.998 (Deleterious) |
| MutatioinAssessor score | 1.785 (Tolerated) |
| PROVEAN score | -3.54 (Deleterious) |
| MetaSVM score | 0.155 (Deleterious) |
| MetaLR score | 0.643 (Deleterious) |
| MCAP score | 0.097 (Deleterious) |
| FitCons score | 0.732 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.91 |
| PhyloP score based on multiple alignment of 100 vertebrates | 8.555 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 20.286 |
| Deleterious probability by iFish2 | 0.6496 (Deleterious) |
| Deleterious probability by DeFine | 0.9549 (Deleterious) |
| Entrez Gene ID | 4437 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MSH3 (GeneCards) |
| Number of variants in MSH3 in this database | 5 (view all the variants) |
| Full name | mutS homolog 3 |
| Band | 5q14.1 |
| Other IDs | Vega: OTTHUMG00000162540 OMIM: 600887 HGNC: HGNC:7326 Ensembl: ENSG00000113318 |
| Other names | DUP, FAP4, MRP1 |
| Summary | The protein encoded by this gene forms a heterodimer with MSH2 to form MutS beta, part of the post-replicative DNA mismatch repair system. MutS beta initiates mismatch repair by binding to a mismatch and then forming a complex with MutL alpha heterodimer. This gene contains a polymorphic 9 bp tandem repeat sequence in the first exon. The repeat is present 6 times in the reference genome sequence and 3-7 repeats have been reported. Defects in this gene are a cause of susceptibility to endometrial cancer. [provided by RefSeq, Mar 2011] |
| 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; |