Search
All inquiries, additions to the list, and comments should be made to Bill Copeland.
Amino Acid Substitution: R869Q
cDNA Position: 2606 g→a (exon 17)
|
|||
---|---|---|---|
Disease | Genetics | Frequency | Reference |
Myopathy w/ neurogenic atrophy; sensomotor axonal polyneuropathy, ataxia, and ptosis | Autosomal recessive, found in a 32 yr. old pt. | <0.5% in Dutch population | (Blok and van den Bosch et al., 2009) PubMed |
PEO | Found in trans w/ K319E in a 44 y.o. w/ PEO, ataxia, neuropathy, and muscle weakness | Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. | (Tang et al., 2011) PubMed |
SANDO | Found in trans w/P587L and w/T251I in a 34 y.o. female with ataxia, ptosis, diabetes and mtDNA deletions. | (Hanisch et al., 2014) PubMed |
|
Epilepsy | Found in a cross-sectional study of 22676 genetic variants associated with epilepsy | (SoRelle et al., 2020) PubMed |
|
Hepaticencephalopathy, Alpers-Huttenlocher | Found as compound heterzygous in trans with G1051R in a one year old boy. Death at 1.8 years old. | (Dai et al., 2019) PubMed |