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All inquiries, additions to the list, and comments should be made to Bill Copeland.
Amino Acid Substitution: A889T
cDNA Position: 2665 g→a (exon 17)
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Disease | Genetics | Frequency | Reference |
PEO | Sporadic / unknown Compound with R579W Compound with E1143G | Filosto, 2003: not detected in 120 healthy control alleles | (Filosto et al., 2003) PubMed |
PEO | Sporadic / unknown Compound with R579W Compound with E1143G |
(Hisama et al., 2005) PubMed |
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Epilepsy | Found in a cross-sectional study of 22676 genetic variants associated with epilepsy | (SoRelle et al., 2020) PubMed |
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arPEO | Found in trans with S615P from the largest Russian cohort for mitochondrial DNA maintenance disorders. | 1 out of 59 patients with POLG mutations | (Bychkov et al., 2021) PubMed |
Ataxia, ophthalmoplegia | Found in trans with R579W from the largest Russian cohort for mitochondrial DNA maintenance disorders. | 1 out of 59 patients with POLG mutations | (Bychkov et al., 2021) PubMed |