Variant position: 160 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 411 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 QDAQTFAEWKVDMLKLDGCF STPEERAQGYPKMAAALNATG
Mouse LDAETFAEWKVDMLKLDGCF SSSRERAEGYPKMAAALNATG
Rat LDAATFAEWKVDMLKLDGCY STPKERAEGYPKMAAALNATG
Bovine QDAQTFAEWKVDMLKLDGCY STPQERAEGYPKMAAALNATG
Chicken QDAQTFAEWGVDMLKLDGCY SSGKEQAQGYPQMARALNSTG
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
18 – 411 Alpha-N-acetylgalactosaminidase
156 – 156 Nucleophile
154 – 154 Substrate
177 – 177 N-linked (GlcNAc...) asparagine
Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype.
Keulemans J.L.M.; Reuser A.J.J.; Kroos M.A.; Willemsen R.; Hermans M.M.P.; van den Ouweland A.M.W.; de Jong J.G.N.; Wevers R.A.; Renier W.O.; Schindler D.; Coll M.J.; Chabas A.; Sakuraba H.; Suzuki Y.; van Diggelen O.P.;
J. Med. Genet. 33:458-464(1996)
Cited for: VARIANTS SCHIND CYS-160 AND LYS-325;
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