| Variant ID | 10423 |
|---|---|
| Entrez Gene ID | 800 |
| Gene | CALD1 (GeneCards) |
| Location | hg19 7:134667914-134667914
hg38 7:134983163-134983163 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000007.13:g.134667914 A>T (Genome Assembly: GRCh37) |
| 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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.5388 |
| CADD Raw score (version 1.3) | -0.515712 (Deleterious) |
| FATHMM raw prediction score | 0.05844 (Tolerated) |
| Deleterious probability by DeFine | 0.0818 (Neutral) |
| Entrez Gene ID | 800 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CALD1 (GeneCards) |
| Number of variants in CALD1 in this database | 3 (view all the variants) |
| Full name | caldesmon 1 |
| Band | 7q33 |
| Other IDs | Vega: OTTHUMG00000155407 OMIM: 114213 HGNC: HGNC:1441 Ensembl: ENSG00000122786 |
| Other names | CDM, HCAD, LCAD, H-CAD, L-CAD, NAG22 |
| Summary | This gene encodes a calmodulin- and actin-binding protein that plays an essential role in the regulation of smooth muscle and nonmuscle contraction. The conserved domain of this protein possesses the binding activities to Ca(2+)-calmodulin, actin, tropomyosin, myosin, and phospholipids. This protein is a potent inhibitor of the actin-tropomyosin activated myosin MgATPase, and serves as a mediating factor for Ca(2+)-dependent inhibition of smooth muscle contraction. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |