UniProtKB/Swiss-Prot Q9H227: Variant p.Asp106Asn

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 106 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: LB/B 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 Aspartate (D) to Asparagine (N) at position 106 (D106N, p.Asp106Asn). 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 acidic (D) to medium size and polar (N) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: 1 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
Polymorphism: The sequence shown in this entry differs from the translation of the reference genome assembly (GRCh38/hg38) due to a nonsense variant creating stop codon at position 456 in the reference genome, leading to the synthesis of a truncated protein lacking enzymatic activity in vitro. The sequence shown in this entry is that of variant p.Ter456Tyr, which has a frequency of about 88% in the human population according to the Genome Aggregation Database (gnomAD v3.1.2) and gives rise to a fully active beta-glucosidase. Additional information on the polymorphism described.

Sequence information

Variant position: 106 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 469 The length of the canonical sequence.
Location on the sequence: DGTTGFINQKGIDYYNKIID D LLKNGVTPIVTLYHFDLPQT 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.
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
Chain	1 – 469	Cytosolic beta-glucosidase
Binding site	120 – 120
Alternative sequence	95 – 401	Missing. In isoform 2.
Helix	94 – 109

Literature citations

Mutations in the gene encoding cytosolic beta-glucosidase in Gaucher disease.
Beutler E.; Beutler L.; West C.;
J. Lab. Clin. Med. 144:65-68(2004)
Cited for: VARIANT ASN-106;