Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P30101: Variant p.Lys415Arg

Protein disulfide-isomerase A3
Gene: PDIA3
Feedback?
Variant information Variant position: help 415 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Lysine (K) to Arginine (R) at position 415 (K415R, p.Lys415Arg). 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 large size and basic. 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

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


Sequence information Variant position: help 415 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 505 The length of the canonical sequence.
Location on the sequence: help KDVLIEFYAPWCGHCKNLEP K YKELGEKLSKDPNIVIAKMD 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                         KDVLIEFYAPWCGHCKNLEPKYKELGEKLSKDPNIVIAKMD

Mouse                         KDVLIEFYAPWCGHCKNLEPKYKELGEKLSKDPNIVIAKMD

Rat                           KDVLIEFYAPWCGHCKNLEPKYKELGEKLSKDPNIVIAKMD

Bovine                        KDVLIEFYAPWCGHCKNLEPKYKELGEKLRKDPNIVIAKMD

Chicken                       KDVLIEFYAPWCGHCKNLEPKYKELGEKLSKDPNIVIAKMD

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 25 – 505 Protein disulfide-isomerase A3
Domain 343 – 485 Thioredoxin 2
Active site 406 – 406 Nucleophile
Active site 409 – 409 Nucleophile
Site 407 – 407 Contributes to redox potential value
Site 408 – 408 Contributes to redox potential value
Mutagenesis 406 – 406 C -> A. No loss of activity. No loss of activity; when associated with A-57.
Mutagenesis 406 – 406 C -> S. Activity changed to serine protease.
Mutagenesis 409 – 409 C -> A. No effect on disulfide bond with TAPBP.
Mutagenesis 409 – 409 C -> S. Activity changed to serine protease; when associated with S-60.
Helix 407 – 422



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.