Search
All inquiries, additions to the list, and comments should be made to Bill Copeland.
|
Amino Acid Substitution: R953C
cDNA Position: 2857 c→t (exon 18)
|
|||
|---|---|---|---|
| Disease | Genetics | Frequency | Reference |
| PEO | ad | Luoma, 2004: None noted in screening of 1640 healthy Finnish control chromosomes. | (Luoma et al., 2004) PubMed |
| Reference # rs11546842 | PubMed |
||
| PEO | Found in trans w/ W748S in a 51 y.o. w/ peripheral neuropathy, ptosis, hypotonia, ataxia, and seizures. | Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. | (Tang et al., 2011) PubMed |
| PEO | Autosomal recessive PEO, found as a homozygous mutation in 3 affected siblings and heterozygous in 2 asymptomatic siblings from the same family. One unaffected sibling had no POLG mutations. Symptoms started in early 20's of the 3 affected siblings whic | (Gurgel-Giannetti et al., 2012) PubMed |
|
| MNGIE-like | Found in compound with W748S in a 50y.o. male with cognitive impairment, muscle weakness, diarrhea, vomiting, ptosis, and opthalmoparesis. | (Tang et al., 2012) PubMed |
|
| MItochondrial toxicity | Found as a heterozygous mutation in a HIV positive patient with mitochondrial toxicity | (Li et al., 2016) PubMed |
|
| Epilepsy | Found in a cross-sectional study of 22676 genetic variants associated with epilepsy | (SoRelle et al., 2020) PubMed |
|