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All inquiries, additions to the list, and comments should be made to Bill Copeland.
Amino Acid Substitution: L244P
cDNA Position: 731 t→c (exon 3)
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Disease | Genetics | Frequency | Reference |
Infantile Hepatocerebral Syndrome | Found as compound with W748S | 1 in 9 (11.11%) children with a combination of progressive neurological and hepatic failure, with an allelic frequency of <0.14% (0 out of 350) in the control group. | (Ferrari et al., 2005) PubMed |
Alpers | Found 2 infants in trans with W748S | (Spinazzola et al., 2009) PubMed |