Home  |  Contact

UniProtKB/Swiss-Prot P21549: Variant p.Ile279Thr

Serine--pyruvate aminotransferase
Gene: AGXT
Variant information

Variant position:  279
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Isoleucine (I) to Threonine (T) at position 279 (I279T, p.Ile279Thr).
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 hydrophobic (I) to medium size and polar (T)
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

Polymorphism:  Polymorphism at position 11 acts synergistically with different mutations in AGXT producing specific enzymic phenotypes in HP1 patients. The combined presence of Leu-11 and Met-340 polymorphisms defines the minor AGXT allele, whereas their absence defines the major allele. The minor allele has frequencies of 20% in normal European and North American populations, and 50% in HP1 patients.
Additional information on the polymorphism described.

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



Sequence information

Variant position:  279
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  392
The length of the canonical sequence.

Location on the sequence:   MYHHTIPVISLYSLRESLAL  I AEQGLENSWRQHREAAAYLH
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                         MYHHTIPVISLYSLRESLALIAEQGLENSWRQHREAAAYLH

Mouse                         VIHHTTPVTSLYCLRESLALIAEQGLENCWRRHREATAHLH

Rat                           VIHHTLPVISLYCLRESLALISEQGLENSWRRHREATAHLH

Rabbit                        MYHHTTPVIGIFALRESLALLVEQGLEKSWQRHREVAQHLY

Cat                           IYHHTTPVVSLYSLRESLALIAEQGLENSWRQHREVTAYLH

Slime mold                    RYHHTTPANLLYSLREALVLLVEEGLDNVWKRHQDAAILLY

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 1 – 392 Serine--pyruvate aminotransferase
Helix 266 – 282


Literature citations

The major allele of the alanine:glyoxylate aminotransferase gene: nine novel mutations and polymorphisms associated with primary hyperoxaluria type 1.
Coulter-Mackie M.B.; Lian Q.; Applegarth D.; Toone J.;
Mol. Genet. Metab. 86:172-178(2005)
Cited for: VARIANTS HP1 ARG-161 AND LEU-218; VARIANTS THR-279 AND VAL-280;

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.