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Literature summary for 2.7.7.12 extracted from

  • Choi, R.; Jo, K.I.; Ko, D.H.; Lee, D.H.; Song, J.; Jin, D.K.; Ki, C.S.; Lee, S.Y.; Kim, J.W.; Lee, Y.W.; Park, H.D.
    Novel GALT variations and mutation spectrum in the Korean population with decreased galactose-1-phosphate uridyltransferase activity (2014), BMC Med. Genet., 15, 94.
    View publication on PubMedView publication on EuropePMC
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Application

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

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

Organism UniProt Comment Textmining
Homo sapiens P07902
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