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All inquiries, additions to the list, and comments should be made to Bill Copeland.
Amino Acid Substitution: A1105T
cDNA Position: 3313 g→a (exon 21)
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Disease | Genetics | Frequency | Reference |
PEO | Found as a heterozygous mutation and as a compound heterozygous mutation w/ N468D in 3 patients of the same family all w/PEO | Luoma, 2004: None noted in screening of 1640 healthy Finnish control chromosomes. | (Luoma et al., 2004) PubMed |
PEO | Found d as a compound heterozygous mutation w/ N468D in 3 patients w/ mtDNA deletions and mutations. Proposed replication stalling as the principal cause of deletion formation. | (Wanrooij et al., 2004) PubMed |
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MDS | Found in a large cohort study. | (Hikmat et al., 2020) PubMed |