The UMD-LMNA mutations database
Record ID: 1705
Mutation description
| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.569G>A | p.Arg190Gln | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CGG | Arg | CAG | Gln | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| c-Fos binding domain 1 | Yes, non coding strand | Yes |
Mutation impact
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.97 | 0.13 (non pathogenous) | 59 (Probable polymorphism) |
Patient and sample data
| Sample ID | Patient ID | Family ID | Patient status | Gender | Transmission |
| 00PA08EII166 | EII-1 | Family E Perrot et al | Proband | Male | Unknown |
| Phenotypic group | Age of onset | Age of death | Geographic origin |
| DCM-CD | Still alive |
Comments
| Nuclear morphology and GFP-Lamin A localization studies were published by Cowan et al. Circ Cardiovasc Genet. 2010 Feb 1;3(1):6-14. Mattioli et al. (Cell death and differentiation, 2011, 18, 1305 -1315) reported that prelamin A-mediated recruitment of SUN1 to the nuclear envelope directs nuclear positioning in a patient's fibroblasts. |
Pedigree
Reference
| Reference ID | PubMed ID | Reference |
| 187 | 18795223 | Perrot A, Hussein S, Ruppert V, Schmidt HH, Wehnert MS, Duong NT, Posch MG, Panek A, Dietz R, Kindermann I, B*hm M, Michalewska-Wludarczyk A, Richter A, Maisch B, Pankuweit S, Ozcelik C. Identification of mutational hot spots in LMNA encoding lamin A/C in patients with familial dilated cardiomyopathy. Basic Res Cardiol. 2009 Jan;104(1):90-9. Epub 2008 Sep 15. |