Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P05062: Variant p.Ala150Pro

Fructose-bisphosphate aldolase B
Gene: ALDOB
Feedback?
Variant information Variant position: help 150 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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: help From Alanine (A) to Proline (P) at position 150 (A150P, p.Ala150Pro). 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: help Change from small size and hydrophobic (A) to medium size and hydrophobic (P) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In HFI; frequent mutation. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 150 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 364 The length of the canonical sequence.
Location on the sequence: help GLSERCAQYKKDGVDFGKWR A VLRIADQCPSSLAIQENANA 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         GLSERCAQYKKDGVDFGKWRAVLRIADQCPSSLAIQENANA

Mouse                         GLSERCAQYKKDGVDFGKWRAVLRIADQCPSSLAIQENANA

Rat                           GLSERCAQYKKDGVDFGKWRAVLRISDQCPSSLAIQENANA

Bovine                        GLSERCAQYKKDGADFGKWRAVLKIDNQCPSHLAIQENANT

Rabbit                        GLSERCAQYKKDGVDFGKWRAVLRIADQCPSSLAIQENANT

Sheep                         GLSERCAQYKKDGADFGKWRAVLKIDNQCPSHLAIQENANT

Chicken                       KLAERCAQYKKDGADFGKWRAVLKISSTTPSQLAIQENANT

Zebrafish                     GLSERCAQYKKDGCDFAKWRCVLKISDSCPSALGIAENANV
Sequence annotation in neighborhood: help 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 – 364 Fructose-bisphosphate aldolase B
Modified residue 132 – 132 Phosphoserine
Mutagenesis 147 – 147 K -> A. Loss of enzymatic activity. Impairs the interaction with G6PD.
Mutagenesis 149 – 149 R -> A. Loss of enzymatic activity. Impairs the interaction with G6PD.
Beta strand 145 – 152



Literature citations
Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation.
Cross N.C.P.; Tolan D.R.; Cox T.M.;
Cell 53:881-885(1988)
Cited for: VARIANT HFI PRO-150; Screening for hereditary fructose intolerance mutations by reverse dot-blot.
Lau J.; Tolan D.R.;
Mol. Cell. Probes 13:35-40(1999)
Cited for: VARIANTS HFI PRO-150; ASP-175; PRO-257; TRP-304; LYS-335 AND VAL-338; Molecular analysis of the aldolase B gene in patients with hereditary fructose intolerance from Spain.
Sanchez-Gutierrez J.C.; Benlloch T.; Leal M.A.; Samper B.; Garcia-Ripoll I.; Feliu J.E.;
J. Med. Genet. 39:E56-E56(2002)
Cited for: VARIANTS HFI PRO-150; ASP-175; ARG-185 AND LYS-335; FUNCTION; CATALYTIC ACTIVITY; PATHWAY; Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene.
Esposito G.; Santamaria R.; Vitagliano L.; Ieno L.; Viola A.; Fiori L.; Parenti G.; Zancan L.; Zagari A.; Salvatore F.;
Hum. Mutat. 24:534-534(2004)
Cited for: VARIANTS HFI THR-74; 120-ASN-LYS-121 DEL; PRO-150; ASP-175; PHE-222; PRO-229; PRO-257; LYS-335 AND VAL-338; CHARACTERIZATION OF VARIANTS HFI THR-74; PHE-222 AND PRO-229; The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe.
Santer R.; Rischewski J.; von Weihe M.; Niederhaus M.; Schneppenheim S.; Baerlocher K.; Kohlschuetter A.; Muntau A.; Posselt H.-G.; Steinmann B.; Schneppenheim R.;
Hum. Mutat. 25:594-594(2005)
Cited for: VARIANTS HFI PRO-150; ASP-175; ARG-178; PRO-284 AND LYS-335; Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion.
Esposito G.; Imperato M.R.; Ieno L.; Sorvillo R.; Benigno V.; Parenti G.; Parini R.; Vitagliano L.; Zagari A.; Salvatore F.;
Hum. Mutat. 31:1294-1303(2010)
Cited for: VARIANTS HFI TRP-46; PRO-150; ASP-175 AND HIS-343; CHARACTERIZATION OF VARIANTS HFI TRP-46 AND HIS-343; FUNCTION; CATALYTIC ACTIVITY; BIOPHYSICOCHEMICAL PROPERTIES; PATHWAY;
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.