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All inquiries, additions to the list, and comments should be made to Bill Copeland.
Amino Acid Substitution: K755E
cDNA Position: 2263 a→g (exon 13)
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Disease | Genetics | Frequency | Reference |
Hypoketotic, hypyoglycaemial, and liver dysfunction | Compound heterozygote w/ L623W | Not found in 200 healthy controls | (Bortot, et al., 2009) PubMed |
Hepatic disease | Found as heterozygous in trans with L623W with hepatic disease with neonatal onset and a dead sibling who carried the same mutations. | (Blazquez-Bermejo et al., 2019) PubMed |