UniProtKB/Swiss-Prot P14550: Variant p.Asn52Ser

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

52 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 Asparagine (N) to Serine (S) at position 52 (N52S, p.Asn52Ser). 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 polar (N) to small size and polar (S) 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
Variant description:

Reduced activity towards daunorubicin. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs2229540 [ dbSNP | Ensembl ]

Sequence information Variant position:

52 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:

AVKYALSVGYRHIDCAAIYG N EPEIGEALKEDVGPGKAVPR 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                         AVKYALSVGYRHIDCAAIYGNEPEIGEALKEDVGPGKAVPR

Mouse                         AIKHALSAGYRHIDCASVYGNETEIGEALKESVGSGKAVPR

Rat                           AIKYALSVGYRHIDCASVYGNETEIGEALKESVGAGKAVPR

Pig                           AIKYALTVGYRHIDCAAIYGNELEIGEALQETVGPGKAVPR

Bovine                        AIKYALSVGYRHIDCAAIYGNETEIGEALKENVGPGKLVPR

Chicken                       AVKYALSVGYRHVDCAAAYSNEAEIGDAFQECVGPNKVIKR

Xenopus laevis                AVKYALGVGYRHIDCAFVYGNETEVGEAIKESVGPDKGLKR

Xenopus tropicalis            AVKYALGVGYRHIDCAFVYGNETEVGEAIKESVGSDKGLSR

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

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.