Variant position: 652 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 837 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human ASLEAAESLDELHWAPELGV FADFGNHTKAVQLKPRPPQGL
Mouse ASLEEPGSLDELHWAPELGV FADFGNHTKAVQLKSRPPQGL
Rat ASLEAAGSLDELHWAPELGV FADFGNHTKAVQLKSRPPQGL
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 837 Mannosyl-oligosaccharide glucosidase
60 – 837 Lumenal
657 – 657 N-linked (GlcNAc...) asparagine
A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency.
De Praeter C.M.; Gerwig G.J.; Bause E.; Nuytinck L.K.; Vliegenthart J.F.G.; Breuer W.; Kamerling J.P.; Espeel M.F.; Martin J.-J.; De Paepe A.M.; Chan N.W.C.; Dacremont G.A.; Van Coster R.N.;
Am. J. Hum. Genet. 66:1744-1756(2000)
Cited for: VARIANTS CDGIIB THR-486 AND LEU-652;
Processing of N-linked carbohydrate chains in a patient with glucosidase I deficiency (CDG type IIb).
Voelker C.; De Praeter C.M.; Hardt B.; Breuer W.; Kalz-Fueller B.; Van Coster R.N.; Bause E.;
Cited for: CHARACTERIZATION OF VARIANTS CDGIIB THR-486 AND LEU-652;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.