Literature summary for 2.4.1.150 extracted from

Cheong, S.S.; Hull, S.; Jones, B.; Chana, R.; Thornton, N.; Plagnol, V.; Moore, A.T.; Hardcastle, A.J.
Pleiotropic effect of a novel mutation in GCNT2 causing congenital cataract and a rare adult i blood group phenotype (2017), Hum. Genome Var., 4, 17004 .

Search for more literature for 2.4.1.150

Cloned(Commentary)

Cloned (Comment)	Organism
gene GCNT2, genotyping	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
A169T	naturally occuring mutation in the GCNT2 gene causing blood group I and cataract formation phenotype	Homo sapiens
G310D	naturally occuring mutation in the GCNT2 gene causing blood group I and cataract formation phenotype	Homo sapiens
G334R	naturally occuring mutation in the GCNT2 gene causing blood group I and cataract formation phenotype	Homo sapiens
G348E	naturally occuring mutation in the GCNT2 gene causing blood group I and cataract formation phenotype	Homo sapiens
N388R	homozygous frameshift mutation c.1163_1166delATCA, p.(Asn388Argfs*20) is the cause of congenital cataract in two affected siblings, pleiotropic effect of the mutation causing congenital cataract and adult I blood group phenotype, overview	Homo sapiens
R226Q	naturally occuring mutation in the GCNT2 gene causing blood group I and cataract formation phenotype	Homo sapiens
R383H	naturally occuring mutation in the GCNT2 gene causing blood group I and cataract formation phenotype	Homo sapiens
W326stop	naturally occuring mutation in the GCNT2 gene causing blood group I and cataract formation phenotype	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	Q8N0V5	-	-

Synonyms

Synonyms	Comment	Organism
GCNT2	-	Homo sapiens

General Information

General Information	Comment	Organism
malfunction	analysis of pleiotropic effect of mutations in GCNT2, especially frameshift mutation N388R, causing congenital cataract and a rare adult I blood group phenotype, detailed overview	Homo sapiens

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Release 2023.1 (January 2023)