| Variant ID | 811 |
|---|---|
| Entrez Gene ID | 388662 |
| Gene | SLC6A17 (GeneCards) |
| Location | hg19 1:110735253-110735253
hg38 1:110192631-110192631 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000001.10:g.110735253 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 411 |
| Amino acid changes in protein | T > I |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0387 |
| CADD Raw score (version 1.3) | 3.344887 (Deleterious) |
| FATHMM raw prediction score | 0.9478 (Tolerated) |
| SIFT score | 0.126 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 0.996 (Deleterious) |
| MutatioinAssessor score | 1.915 (Tolerated) |
| PROVEAN score | -1.58 (Tolerated) |
| MetaSVM score | -0.842 (Tolerated) |
| MetaLR score | 0.2 (Tolerated) |
| MCAP score | 0.011 (Tolerated) |
| FitCons score | 0.487 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.41 |
| PhyloP score based on multiple alignment of 100 vertebrates | 5.605 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 19.194 |
| Deleterious probability by iFish2 | 0.9548 (Deleterious) |
| Deleterious probability by DeFine | 0.9501 (Deleterious) |
| Entrez Gene ID | 388662 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SLC6A17 (GeneCards) |
| Number of variants in SLC6A17 in this database | 2 (view all the variants) |
| Full name | solute carrier family 6 member 17 |
| Band | 1p13.3 |
| Other IDs | Vega: OTTHUMG00000011761 OMIM: 610299 HGNC: HGNC:31399 Ensembl: ENSG00000197106 |
| Other names | NTT4, MRT48 |
| Summary | The protein encoded by this gene is a member of the SLC6 family of transporters, which are responsible for the presynaptic uptake of most neurotransmitters. The encoded vesicular transporter is selective for proline, glycine, leucine and alanine. In mouse, the strongest expression of this gene was in cortical and hippocampal tissues where expression increased during embryonic brain development and peaked postnatally. Defects in this gene cause a form of autosomal recessive intellectual disability. [provided by RefSeq, Jul 2017] |
| Individual ID | 27788131.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |