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UniProtKB/Swiss-Prot P14550: Variant p.Glu55Asp

Aldo-keto reductase family 1 member A1
Gene: AKR1A1
Variant information

Variant position:  55
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 Glutamate (E) to Aspartate (D) at position 55 (E55D, p.Glu55Asp).
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:  Similar physico-chemical property. Both residues are medium size and acidic.
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:  Reduced activity towards daunorubicin.
Any additional useful information about the variant.

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



Sequence information

Variant position:  55
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  325
The length of the canonical sequence.

Location on the sequence:   YALSVGYRHIDCAAIYGNEP  E IGEALKEDVGPGKAVPREEL
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                         YALSVGYRHIDCAAIYGNEPEIGEALKEDVGPGKAVPREEL

Mouse                         HALSAGYRHIDCASVYGNETEIGEALKESVGSGKAVPREEL

Rat                           YALSVGYRHIDCASVYGNETEIGEALKESVGAGKAVPREEL

Pig                           YALTVGYRHIDCAAIYGNELEIGEALQETVGPGKAVPREEL

Bovine                        YALSVGYRHIDCAAIYGNETEIGEALKENVGPGKLVPREEL

Chicken                       YALSVGYRHVDCAAAYSNEAEIGDAFQECVGPNKVIKREDL

Xenopus laevis                YALGVGYRHIDCAFVYGNETEVGEAIKESVGPDKGLKREEV

Xenopus tropicalis            YALGVGYRHIDCAFVYGNETEVGEAIKESVGSDKGLSREEV

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 2 – 325 Aldo-keto reductase family 1 member A1
Active site 50 – 50 Proton donor
Binding site 45 – 45 NADP
Modified residue 38 – 38 Phosphoserine
Mutagenesis 50 – 50 Y -> F. Complete loss of enzymatic activity.
Mutagenesis 50 – 50 Y -> H. Complete loss of enzymatic activity.
Helix 53 – 63


Literature citations

Two allelic variants of aldo-keto reductase 1A1 exhibit reduced in vitro metabolism of daunorubicin.
Bains O.S.; Takahashi R.H.; Pfeifer T.A.; Grigliatti T.A.; Reid R.E.; Riggs K.W.;
Drug Metab. Dispos. 36:904-910(2008)
Cited for: FUNCTION; CHARACTERIZATION OF VARIANTS SER-52 AND ASP-55;

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.