Variant position: 325 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 INQDPLGIQGRRIHKEKSLI EVYMRPLSNKASALVFFSCRT
Mouse INQDPLGIQGRRILKSKSHI EVFKRYLSNQASALVFFSRRT
Rat INQDPLGIQGRLIFKSKSHI EVFKRNLSDDASALVFFSRRT
Bovine INQDPLGIQGRRILKEKSHI EVYLRPLASEASAIVFFSRRM
Chicken INQDPLGIQGRRIIKEGSHI EVFLRPLSQAASALVFFSRRT
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
322 – 322 Phosphoserine
332 – 332 Phosphoserine
323 – 330
Schindler disease: the molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy.
Wang A.M.; Schindler D.; Desnick R.J.;
J. Clin. Invest. 86:1752-1756(1990)
Cited for: VARIANT SCHIND LYS-325;
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;
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.