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UniProtKB/Swiss-Prot P56817: Variant p.Arg481Cys

Beta-secretase 1
Gene: BACE1
Variant information

Variant position:  481
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 Arginine (R) to Cysteine (C) at position 481 (R481C, p.Arg481Cys).
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 large size and basic (R) to medium size and polar (C)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -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

Other resources:  
Links to websites of interest for the variant.

Sequence information

Variant position:  481
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  501
The length of the canonical 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.





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.

Chain 46 – 501 Beta-secretase 1
Topological domain 479 – 501 Cytoplasmic
Region 479 – 501 Interaction with RTN3
Modified residue 498 – 498 Phosphoserine
Lipidation 474 – 474 S-palmitoyl cysteine
Lipidation 478 – 478 S-palmitoyl cysteine
Lipidation 482 – 482 S-palmitoyl cysteine
Lipidation 485 – 485 S-palmitoyl cysteine
Cross 501 – 501 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
Mutagenesis 498 – 498 S -> A. No effect on endocytosis from the cell surface. Increases recycling from endosomes to the cell surface.
Mutagenesis 498 – 498 S -> D. No effect on endocytosis form the cell surface. Decreases recycling from endosomes to the cell surface.
Mutagenesis 501 – 501 K -> R. Inhibits ubiquitination. No effect on endocytosis rate. Induced protein stability and acculmulation in early and late endosomes, lysosomes and cell membrane. Effects on protein stability and defective internalization increases; when associated with A-499-500-A.

Literature citations

No reference for the current variant in UniProtKB/Swiss-Prot.

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.