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All inquiries, additions to the list, and comments should be made to Bill Copeland.
Amino Acid Substitution: M1163R
cDNA Position: 3488 t→g (exon 22)
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Disease | Genetics | Frequency | Reference |
Liver failure, encephalopathy, and epilepsy | Found as compound in trans with W748S - E1143G | Not found in 200 control alleles | (Kollberg et al., 2006) PubMed |
Alpers | Found w/E1143G and W748S in a pediatric patient w/mitochondrial encephalomyopathy, seizures, ataxia, and ophthalmological involvement | (Sofou et al., 2012) PubMed |
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MDS | Found in a large cohort study. | (Hikmat et al., 2020) PubMed |