| Variant ID | 858 |
|---|---|
| Entrez Gene ID | 8997 |
| Gene | KALRN (GeneCards) |
| Location | hg19 3:124209585-124209585
hg38 3:124490738-124490738 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000003.11:g.124209585 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 1479 |
| Amino acid changes in protein | D > N |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.8742 |
| CADD Raw score (version 1.3) | 6.388164 (Deleterious) |
| FATHMM raw prediction score | 0.98951 (Tolerated) |
| SIFT score | 0.001 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.14 (Deleterious) |
| PROVEAN score | -3.79 (Deleterious) |
| MetaSVM score | -0.852 (Tolerated) |
| MetaLR score | 0.147 (Tolerated) |
| MCAP score | 0.026 (Deleterious) |
| FitCons score | 0.638 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.13 |
| PhyloP score based on multiple alignment of 100 vertebrates | 10.003 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 18.769 |
| Deleterious probability by iFish2 | 0.9587 (Deleterious) |
| Deleterious probability by DeFine | 0.9665 (Deleterious) |
| Entrez Gene ID | 8997 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KALRN (GeneCards) |
| Number of variants in KALRN in this database | 9 (view all the variants) |
| Full name | kalirin RhoGEF kinase |
| Band | 3q21.1-q21.2 |
| Other IDs | Vega: OTTHUMG00000125545 OMIM: 604605 HGNC: HGNC:4814 Ensembl: ENSG00000160145 |
| Other names | DUO, CHD5, DUET, TRAD, CHDS5, HAPIP, ARHGEF24 |
| Summary | Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein that interacts with the huntingtin-associated protein 1, which is a huntingtin binding protein that may function in vesicle trafficking. [provided by RefSeq, Apr 2016] |
| 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; |