Literature summary for 3.2.1.108 extracted from

Torniainen, S.; Freddara, R.; Routi, T.; Gijsbers, C.; Catassi, C.; Hoeglund, P.; Savilahti, E.; Jaervelae, I.
Four novel mutations in the lactase gene (LCT) underlying congenital lactase deficiency (CLD) (2009), BMC Gastroenterol., 9, 8.

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Protein Variants

Protein Variants	Comment	Organism
E1612X	results in congenital lactase deficiency	Homo sapiens
G1363S	results in congenital lactase deficiency	Homo sapiens
R1587H	results in congenital lactase deficiency	Homo sapiens
S688P	results in congenital lactase deficiency	Homo sapiens
Y1390X	results in congenital lactase deficiency	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P09848	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
peripheral blood	-	Homo sapiens	-

Synonyms

Synonyms	Comment	Organism
lactase	-	Homo sapiens

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Release 2023.1 (January 2023)