Variant position: 312 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 637 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 LARIQEDRTVIVSPVFDNIR FDTFKLDKYELAVDGFNWELW
Caenorhabditis elegans LQPIKEDPKSIVLPVVDLIN PVSFDYSPSMVAKSGFDWGFT
Drosophila IAPILEDNRTCTTPIIDTID FDNFAYRRGKPSRGFFNWEF-
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 – 637 Probable polypeptide N-acetylgalactosaminyltransferase 8
30 – 637 Lumenal
171 – 404
Molecular cloning of a novel human UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase, GalNAc-T8, and analysis as a candidate autosomal dominant hypophosphatemic rickets (ADHR) gene.
White K.E.; Lorenz B.; Evans W.E.; Meitinger T.; Strom T.M.; Econs M.J.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; TISSUE SPECIFICITY; VARIANTS ASN-53; GLY-267; SER-312; VAL-337; GLY-438; PHE-515 AND MET-611;
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.