Search
All inquiries, additions to the list, and comments should be made to Bill Copeland.
Amino Acid Substitution: G737R
cDNA Position: 2209 g→c (exon 13)
|
|||
---|---|---|---|
Disease | Genetics | Frequency | Reference |
Epilepsy and liver failure | Found as compound in trans with A767D in two family members | Not found in 250 control individuals | (Horvath et al., 2006) PubMed |
Parkinsonism | Parkinsonism in trans with R853W. |
(Davidzon et al., 2006) PubMed |
|
Charcot-Marie Tooth disease, (CMT) (profound cerebellar ataxia) | Found in trans with the S64L-R232H in CMT. | Found in 2/666 (0.3%) of control alleles | (Harrower et al, 2008) PubMed |
arPEO+ and Myocerebrohepatopathy (MCHS) | Found in trans w/ A467T. In trans w/ E1143G-R943C in MCHS. Also, found as a single heterozygous mutation. | (Wong et al., 2008) PubMed |
|
PEO | Found in trans with W748S. | (Tzoulis, et al., 2009) PubMed |
|
PEO | Found in trans w/ L304R in a 54 y.o. with PEO, ptosis, and muscle weakness | Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. | (Tang et al., 2011) PubMed |
Seizures | Found in trans w/ G426S in an 11 y.o. w/ seizures and an abnormal MRI | Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. | (Tang et al., 2011) PubMed |
Seizures | Found in trans w/ V855L in an 8 mo. w/ seizures, liver failure, and developmentally delayed | Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. | (Tang et al., 2011) PubMed |
Found in trans A957V in a 4 mo. No symptoms noted | Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. | (Tang et al., 2011) PubMed |
|
Epilepsy | Found with A767D in a 1 y.o. male. Patient also had myopathy. In a study using patient fibroblasts, the cells were unable to up regulate mitochondrial biogenesis when exposed to Valproic acid. | (Sitarz et al., 2014) PubMed |
|
Parkinsonism | Found in trans with R853W in a 32 y.o. female with early signs of Parkinsonism and COX negative muscle fibers. Levodopa-responsive. | (Rempe et al., 2016) PubMed |
|
Charcot-Marie-Tooth disease | Found as compound heterozygous in trans with R309H in a 6 year-old girl with a complex phenotype that included early onset axonal Charcot?Marie?Tooth disease (CMT). | (Phillips et al., 2019) PubMed |
|
MDS | Found in a large cohort study. | PubMed | |
Epilepsy | Found in a cross-sectional study of 22676 genetic variants associated with epilepsy | (SoRelle et al., 2020) PubMed |