UniProtKB/Swiss-Prot Q06278: Variant p.Ser1271Leu

Aldehyde oxidase
Gene: AOX1
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Variant information Variant position:

1271 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 Serine (S) to Leucine (L) at position 1271 (S1271L, p.Ser1271Leu). 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 small size and polar (S) to medium size and hydrophobic (L) 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:

No effect on dimerization; no effect on oxidase activity. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs141786030 [ dbSNP | Ensembl ]

Sequence information Variant position:

1271 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

1338 The length of the canonical sequence.
Location on the sequence:

ALLPPSQNSNTLYSSKGLGE S GVFLGCSVFFAIHDAVSAAR 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                         ALLPPSQNSNTLYSSKGLGESGVFLGCSVFFAIHDAVSAAR

Mouse                         SFLPPSEHSNTLYSSKGLGESGVFLGCSVFFAIHDAVKAAR

Rat                           SFLPPSEHSNTLYSSKGLGESGVFLGCSVFFAIHDAVRAAR

Bovine                        SFLPPSENSNTLYSSKGLGESGIFLGCSVFFAIHDAIRAAR

Rabbit                        TFLPPSEKSNTLYSSKGLGESGVFMGCSVFFAIREAVCAAR

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	1 – 1338	Aldehyde oxidase
Active site	1270 – 1270	Proton acceptor; for azaheterocycle hydroxylase activity
Binding site	1268 – 1268
Mutagenesis	1269 – 1269	G -> R. No effect on dimerization. Loss of oxidase activity.
Helix	1271 – 1276

Literature citations
Optimization of the Expression of Human Aldehyde Oxidase for Investigations of Single-Nucleotide Polymorphisms.
Foti A.; Hartmann T.; Coelho C.; Santos-Silva T.; Romao M.J.; Leimkuhler S.;
Drug Metab. Dispos. 44:1277-1285(2016)
Cited for: X-RAY CRYSTALLOGRAPHY (3.39 ANGSTROMS) OF VARIANT LEU-1271 IN COMPLEX WITH FAD; IRON-SULFUR (2FE-2S) AND MOLYBDOPTERIN; CHARACTERIZATION OF VARIANT LEU-1271; FUNCTION; SUBUNIT; COFACTOR; MUTAGENESIS OF CYS-44 AND GLY-1269; BIOPHYSICOCHEMICAL PROPERTIES; The impact of single nucleotide polymorphisms on human aldehyde oxidase.
Hartmann T.; Terao M.; Garattini E.; Teutloff C.; Alfaro J.F.; Jones J.P.; Leimkuehler S.;
Drug Metab. Dispos. 40:856-864(2012)
Cited for: VARIANTS CYS-802; HIS-921; SER-1135; LEU-1271 AND ARG-1297; CHARACTERIZATION OF VARIANTS CYS-802; HIS-921; SER-1135 AND ARG-1297; FUNCTION AS OXIDASE; HOMODIMER; COFACTOR; SUBSTRATE SPECIFICITY; BIOPHYSICOCHEMICAL PROPERTIES;

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.