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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P05062: Variant p.Cys135Arg

Fructose-bisphosphate aldolase B
Gene: ALDOB
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Variant information Variant position: help 135 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 Cysteine (C) to Arginine (R) at position 135 (C135R, p.Cys135Arg). 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 medium size and polar (C) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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; America; partial activity. Any additional useful information about the variant.


Sequence information Variant position: help 135 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 PLAGTNKETTIQGLDGLSER C AQYKKDGVDFGKWRAVLRIA 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                         PLAGTNKETTIQGLDGLSERCAQYKKDGVDFGKWRAVLRIA

Mouse                         PLAGTNKETTIQGLDGLSERCAQYKKDGVDFGKWRAVLRIA

Rat                           PLAGTNKETTIQGLDGLSERCAQYKKDGVDFGKWRAVLRIS

Bovine                        PLAGTNKETTVQGLDGLSERCAQYKKDGADFGKWRAVLKID

Rabbit                        PLAGTNKETTIQGLDGLSERCAQYKKDGVDFGKWRAVLRIA

Sheep                         PLAGTNKETTVQGLDGLSERCAQYKKDGADFGKWRAVLKID

Chicken                       PLAGTNGETTIQGLDKLAERCAQYKKDGADFGKWRAVLKIS

Zebrafish                     GLAGTDGETTTQGLDGLSERCAQYKKDGCDFAKWRCVLKIS
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 119 – 119 Phosphothreonine
Modified residue 121 – 121 N6-succinyllysine
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.
Helix 131 – 140



Literature citations
A partially active mutant aldolase B from a patient with hereditary fructose intolerance.
Brooks C.C.; Tolan D.R.;
FASEB J. 8:107-113(1994)
Cited for: VARIANT HFI ARG-135;
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.