General information
Protein ID Protein name Gene name
P34059 N-acetylgalactosamine-6-sulfatase [Precursor] GALNS_HUMAN
Variation Variation Class HGVS Names Allele frequency
p.Gly301Cys missense - -
Database origin SNP ID Phenotype
Uniprot dbSNP rs118204443 Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
External Server Prediction
PolyPhen-2 prediction PolyPhen-2 score SIFT prediction SIFT score
deleterious 1 deleterious 0.00
Physico-chemical properties
Size Charge Polarity Hydrophobicity
= = + +
Disulfid Bond Gly or Pro Modification Score
unchanged disparition 44
Conservation
Conservation in the alignment Number of known mutations at this position Wild type residue representation in alignment (%) Mutant residue representation in alignment (%)
No conservation typification 1.0 77.27 0.00
View alignment with: Jalview, MACSIMS Viewer
Localisation
In a secondary structure element ? In an annoted site ?
no structural data available None
Structural data
No structural information available