Application | Comment | Organism |
---|---|---|
medicine | identification of six likely pathogenic variations including three missense (Ala101Asp, Tyr165His, and Pro257Thr), one small deletion/insertion [c.826_827delinsAA (Ala276Asn)], one frameshift (Asn96Serfs*5), and one splicing (c.378-1G > C) in patients with classic galactosemia. The most frequent variation is the Duarte variant (c.940A > G, 35.3%), followed by c.507G > C (p.Gln169His, 9.6%), among 34 Korean patients | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
A101D | mutation identified in a in patient with classic galactosemia | Homo sapiens |
A276N | mutation identified in a in patient with classic galactosemia | Homo sapiens |
P257T | mutation identified in a in patient with classic galactosemia | Homo sapiens |
Y165H | mutation identified in a in patient with classic galactosemia | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P07902 | - |
- |