Variant position: 198 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 KDEGSFHLKDTAKALLRSLG SQAGPALGWRDTWAFVGRKGG
Mouse KDEGSFHLKDTAKALLRSLG SQAGPALGWRDTWAFVGRKGG
Rat KDEGSFHLKDTAKALLRSLG SQAGPALGWRDTWAFVGRKGG
Bovine KDEGSFHLKDTAKALLRSLG SQAGPALGWRDTWAFVGRKGG
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
207 – 207 Carbohydrate
179 – 179 D -> A. Moderately increased enzyme activity. Decreased affinity for N-acetylglucosamine.
207 – 207 R -> A. Decreased enzyme activity. Impairs protein stability.
POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.
Biancheri R.; Bertini E.; Falace A.; Pedemonte M.; Rossi A.; D'Amico A.; Scapolan S.; Bergamino L.; Petrini S.; Cassandrini D.; Broda P.; Manfredi M.; Zara F.; Santorelli F.M.; Minetti C.; Bruno C.;
Arch. Neurol. 63:1491-1495(2006)
Cited for: VARIANTS MDDGA3 ARG-198 AND TYR-490; VARIANT MDDGB3 GLN-311;
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.