UniProtKB/Swiss-Prot Q06278: Variant p.His1297Arg

Aldehyde oxidase
Gene: AOX1
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Variant information Variant position:

1297 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 Histidine (H) to Arginine (R) at position 1297 (H1297R, p.His1297Arg). 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 (H) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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:

Increases homodimerization and turnover number with phenanthridine as substrate; nearly no effect on kinetic parameters with benzaldehyde, phtalazine and chloroquinazolinone as substrate. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs3731722 [ dbSNP | Ensembl ]

Sequence information Variant position:

1297 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:

CSVFFAIHDAVSAARQERGL H GPLTLNSPLTPEKIRMACED 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                         CSVFFAIHDAVSAARQERGLHGPLTLNSPLTPEKIRMACED

Mouse                         CSVFFAIHDAVKAARQERGISGPWKLNSPLTPEKIRMACED

Rat                           CSVFFAIHDAVRAARQERGISGPWKLTSPLTPEKIRMACED

Bovine                        CSVFFAIHDAIRAARQERGLPGPLRLNSPLTPEKIRMACED

Rabbit                        CSVFFAIREAVCAARQARGLSAPWKLSSPLTPEKIRMACED

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

Literature citations
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.