| Variant ID | 1079 |
|---|---|
| Entrez Gene ID | 57835 |
| Gene | SLC4A5 (GeneCards) |
| Location | hg19 2:74452100-74452100
hg38 2:74224973-74224973 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000002.11:g.74452100 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 1038 |
| Amino acid changes in protein | R > Q |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 1022925 |
| Variant occurences in COSMIC | 2(large_intestine)|1(endometrium) |
| EIGEN score | 0.6821 |
| CADD Raw score (version 1.3) | 5.224131 (Deleterious) |
| FATHMM raw prediction score | 0.93076 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 3.715 (Deleterious) |
| PROVEAN score | -3.45 (Deleterious) |
| MetaSVM score | 0.65 (Deleterious) |
| MetaLR score | 0.743 (Deleterious) |
| MCAP score | 0.267 (Deleterious) |
| FitCons score | 0.66 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.98 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.555 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.997 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 15.793 |
| Deleterious probability by iFish2 | 0.0753 (Neutral) |
| Deleterious probability by DeFine | 0.9565 (Deleterious) |
| Entrez Gene ID | 57835 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SLC4A5 (GeneCards) |
| Number of variants in SLC4A5 in this database | 1 (view all the variants) |
| Full name | solute carrier family 4 member 5 |
| Band | 2p13.1 |
| Other IDs | Vega: OTTHUMG00000090263 OMIM: 606757 HGNC: HGNC:18168 Ensembl: ENSG00000188687 |
| Other names | NBC4, NBCe2 |
| Summary | This gene encodes a member of the sodium bicarbonate cotransporter (NBC) family, part of the bicarbonate transporter superfamily. Sodium bicarbonate cotransporters are involved in intracellular pH regulation and electroneural or electrogenic sodium bicarbonate transport. This protein is thought to be an integral membrane protein. Multiple transcript variants encoding different isoforms have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008] |
| Individual ID | 27788131.02 (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; |