Variant position: 176 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 660 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 EDEAMVLFLNMVAPGRVLIC TVKDEGSFHLKDTAKALLRSL
Mouse EDEAMVLFLNMVAPGRVLIC TVKDEGSFHLKDTAKALLRSL
Rat EDEAMVLFLNMVAPGRVLIC TVKDEGSFHLKDTAKALLRSL
Bovine EDEAMVLFLNMVAPGRVLIC TVKDEGSFHLKDTAKALLRSL
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 – 660 Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1
59 – 660 Lumenal
92 – 288 Carbohydrate-binding stem domain
179 – 179 Carbohydrate
179 – 179 D -> A. Moderately increased enzyme activity. Decreased affinity for N-acetylglucosamine.
171 – 179
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.
Clement E.; Mercuri E.; Godfrey C.; Smith J.; Robb S.; Kinali M.; Straub V.; Bushby K.; Manzur A.; Talim B.; Cowan F.; Quinlivan R.; Klein A.; Longman C.; McWilliam R.; Topaloglu H.; Mein R.; Abbs S.; North K.; Barkovich A.J.; Rutherford M.; Muntoni F.;
Ann. Neurol. 64:573-582(2008)
Cited for: VARIANTS MDDGA3 PRO-176; HIS-367 AND HIS-427; VARIANT MDDGB3 TYR-490;
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.