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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O14773: Variant p.Gly482Arg

Tripeptidyl-peptidase 1
Gene: TPP1
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Variant information Variant position: help 482 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 Glycine (G) to Arginine (R) at position 482 (G482R, p.Gly482Arg). 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 Change from glycine (G) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In CLN2. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 482 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 563 The length of the canonical sequence.
Location on the sequence: help VSNRVPIPWVSGTSASTPVF G GILSLINEHRILSGRPPLGF 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                         VSNRVPIPWVSGTSASTPVFGGILSLINEHR----------ILSGRPPLGF

                              VSNSVPIPWVSGTSASTPVFGGILSLINEHR----------

Chimpanzee                    VSNRVPIPWVSGTSASTPVFGGILSLINEHR----------

Mouse                         VSNMVPIPWVSGTSASTPVFGGILSLINEHR----------

Rat                           VSNMVPIPWVSGTSASTPVFGGILSLINEHR----------

Bovine                        VSNHVPIPWVSGTSASTPVFGGLLSLINEHR----------

Zebrafish                     VSNRVPIPWVSGTSASTPVVGGILSLINDQR----------

Slime mold                    LYKDKLMP-IGGTSASAPIIAGLLSLINDQR----------

Baker's yeast                 FAENLHVEF--------------------------------

Fission yeast                 KEVRRIFQYYTDRTQGSSIEEKRCAMTWHYRKADPENGAFQ
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 196 – 563 Tripeptidyl-peptidase 1
Domain 199 – 563 Peptidase S53
Active site 475 – 475 Charge relay system
Disulfide bond 365 – 526
Mutagenesis 475 – 475 S -> A. Inactive. Impaired processing.
Helix 474 – 494



Literature citations
Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.
Kousi M.; Siintola E.; Dvorakova L.; Vlaskova H.; Turnbull J.; Topcu M.; Yuksel D.; Gokben S.; Minassian B.A.; Elleder M.; Mole S.E.; Lehesjoki A.-E.;
Brain 132:810-819(2009)
Cited for: VARIANT CLN2 ARG-482;
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.