Sequence information
Variant position: 367 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:
VVALFGLRGIQHTPISIKNA
R VSQHYKASLTATFNLFPEAK
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 VVALFGLRGIQHTPISIKNAR VSQHYKASLTATFNLFPEAK
Mouse VVALFGLRGIQHTPISIKNAR VSQHYKASLTATFNLFPEAK
Rat VVALFGLRGIQHTPISIKNAR VSQHYKASLTATFNLFPEAK
Bovine VVALFGLRGIQHTPISIKNAR VSQHYKASLTATFNLFPEAK
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
Chain
1 – 660
Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1
Topological domain
59 – 660
Lumenal
Region
300 – 646
Catalytic
Binding site
371 – 371
UDP-GlcNAc
Helix
364 – 382
Literature citations
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;
Disclaimer:
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.