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UniProtKB/Swiss-Prot P04062: Variant p.Cys62Trp

Lysosomal acid glucosylceramidase
Gene: GBA
Variant information

Variant position:  62
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Cysteine (C) to Tryptophan (W) at position 62 (C62W, p.Cys62Trp).
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:  Change from medium size and polar (C) to large size and aromatic (W)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -2
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:  In GD1.
Any additional useful information about the variant.



Sequence information

Variant position:  62
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  536
The length of the canonical sequence.

Location on the sequence:   PCIPKSFGYSSVVCVCNATY  C DSFDPPTFPALGTFSRYEST
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                         PCIPKSFGYSSVVCVCNATYCDSFDPPTFPALGTFSRYEST

Chimpanzee                    PCIPKSFGYSSVVCVCNATYCDSFDPPTFPALGTFSRYEST

Mouse                         PCIPKSFGYSSVVCVCNASYCDSLDPVTLPALGTFSRYEST

Pig                           PCSPKSFGYSSVVCVCNATYCDSLDPLTLPDPGTFSRFEST

Bovine                        PCSPKSFGYSSVVCVCNGTYCDSLDPLTLPDPGTFSRFEST

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.

TypePositionsDescription
Chain 40 – 536 Lysosomal acid glucosylceramidase
Glycosylation 58 – 58 N-linked (GlcNAc...) asparagine
Disulfide bond 57 – 62
Alternative sequence 1 – 161 Missing. In isoform 3.
Alternative sequence 1 – 87 Missing. In isoform 4.
Mutagenesis 43 – 43 C -> S. Loss of glucosylceramidase activity.
Mutagenesis 57 – 57 C -> S. Loss of glucosylceramidase activity.
Mutagenesis 62 – 62 C -> S. Loss of glucosylceramidase activity.


Literature citations

Two novel mutations in glucocerebrosidase, C23W and IVS7-1 G>A, identified in Type 1 Gaucher patients heterozygous for N370S.
Jack A.; Amato D.; Morris G.; Choy F.Y.;
Gene 538:84-87(2014)
Cited for: VARIANT GD1 TRP-62;

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.