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All inquiries, additions to the list, and comments should be made to Bill Copeland.
Amino Acid Substitution: S1176L
cDNA Position: 3527 c→t (exon 22)
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Disease | Genetics | Frequency | Reference |
PEO | Found as a heterozygous mutation | Lamantea, 2002: Not found in a control group of 100 DNA samples from unrelated Italians | (Lamantea et al., 2002)
PubMed |
PEO | Found in compound w/with T251I/P587L | (Lamantea and Zeviani, 2004) PubMed |
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Epilepsy | Found in a cross-sectional study of 22676 genetic variants associated with epilepsy | (SoRelle et al., 2020) PubMed |