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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P34059: Variant p.Leu345Pro

N-acetylgalactosamine-6-sulfatase
Gene: GALNS
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Variant information Variant position: help 345 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change: help From Leucine (L) to Proline (P) at position 345 (L345P, p.Leu345Pro). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description: help In MPS4A. Any additional useful information about the variant.


Sequence information Variant position: help 345 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 522 The length of the canonical sequence.
Location on the sequence: help WWPGHVTAGQVSHQLGSIMD L FTTSLALAGLTPPSDRAIDG 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         WWPGHVTAGQVSHQLGSIMDLFTTSLALAGLTPPSDRAIDG

                              WWPGRIPAGRVSHQLGSIMDLFTTSLSLAGLAPPSDRVIDG

Mouse                         WWPGHIAAGQVSHQLGSIMDLFTTSLSLAGLKPPSDRVIDG

Rat                           WWPGHIAAGQVSHQLGSIMDLFTTSLSLAGLKPPSDRVIDG

Pig                           WWPGHIPAGQVSHQLGSVMDLFTTSLSLAGLEPPSDRAIDG

Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 27 – 522 N-acetylgalactosamine-6-sulfatase
Region 27 – 379 Catalytic domain
Disulfide bond 308 – 419
Helix 344 – 353



Literature citations
Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A).
Tomatsu S.; Montano A.M.; Nishioka T.; Gutierrez M.A.; Pena O.M.; Tranda Firescu G.G.; Lopez P.; Yamaguchi S.; Noguchi A.; Orii T.;
Hum. Mutat. 26:500-512(2005)
Cited for: VARIANTS MPS4A MET-15; 17-LEU-SER-18 DEL; ARG-23; PRO-36; LEU-41; GLU-42; 52-PRO--GLU-55 DEL; PHE-53; TRP-61; VAL-69; 71-ASN--SER-74 DELINS THR; TYR-79; LEU-94; THR-107; SER-116; CYS-141; TYR-150; GLU-155; PHE-162; THR-164; VAL-167; ALA-171; SER-179; VAL-203; ASN-233; PHE-239; TRP-253; ASP-260; PHE-285 DEL; PRO-307; ASN-310; CYS-325; ASP-340; ARG-341; PRO-345; PRO-352; LEU-357; PRO-369; THR-380; SER-380; HIS-386; ASN-388; VAL-392; ASP-398; TYR-401; 403-TRP-THR-404 DEL; ILE-452; PRO-470 AND SER-484; VARIANTS MET-67; VAL-178; MET-200; GLY-231; SER-393; VAL-459 AND MET-488;
Disclaimer: 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.