Variant position: 311 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 PDPLPDNKVLNVPVAVIAGN RPNYLYRMLRSLLSAQGVSPQ
Mouse PDPLPDNKVLNVPVAVIAGN RPNYLYRMLRSLLSAQGVSPQ
Rat PDPLPDNKVLNVPVAVIAGN RPNYLYRMLRSLLSAQGVSPQ
Bovine PDPLPDNKVLNVPVAVIAGN RPNYLYRMLRSLLSAQGVSPQ
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
307 – 311 UDP-GlcNAc
300 – 646 Catalytic
POMGnT1 gene alterations in a family with neurological abnormalities.
Vervoort V.S.; Holden K.R.; Ukadike K.C.; Collins J.S.; Saul R.A.; Srivastava A.K.;
Ann. Neurol. 56:143-148(2004)
Cited for: VARIANTS MDDGA3 HIS-265; GLN-311 AND CYS-442;
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.