Literature summary for 2.4.1.267 extracted from

Westphal, V.; Xiao, M.; Kwok, P.Y.; Freeze, H.H.
Identification of a frequent variant in ALG6, the cause of congenital disorder of glycosylation-Ic (2003), Hum. Mutat., 22, 420-421.

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Protein Variants

Protein Variants	Comment	Organism
Y131H	frequent natural variant, the cause of congenital disorder of glycosylation-Ic (CDG-Ic). One patient with typical CDG-Ic symptoms and a homozygous p.Tyr131His alteration in ALG6. In contrast to most CDG patients, her LLO and plasma transferrin glycosylation appeared normal. Thus, it is unclear whether Y131H causes CDG-Ic or contributes to the symptoms	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	Q9Y672	-	-

Synonyms

Synonyms	Comment	Organism
ALG6	-	Homo sapiens

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Release 2023.1 (January 2023)