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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P05062: Variant p.Asn335Lys

Fructose-bisphosphate aldolase B
Gene: ALDOB
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Variant information Variant position: help 335 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 Asparagine (N) to Lysine (K) at position 335 (N335K, p.Asn335Lys). 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 (N) to large size and basic (K) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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: 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 335 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 GGKAANKEATQEAFMKRAMA N CQAAKGQYVHTGSSGAASTQ 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                         GGKAANKEATQEAFMKRAMANCQAAKGQYVHTGSSGAASTQ

Mouse                         GGKAANKKATQEAFMKRAMANCQAAQGQYVHTGSSGAAATQ

Rat                           GGKAANKKATQEAFMKRAVANCQAAQGQYVHTGSSGAASTQ

Bovine                        GGKAENKKTTQEAFMKRALANSQAAKGQYVHMGSSGSASTQ

Rabbit                        GGKAENKKATQEAFMKRAVVNCQAAKGQYVHTGSSGAASTQ

Sheep                         GGKAENKKATQEAFMKRALANSQAAKGQYVHMGSSDSASTQ

Chicken                       LGKSENKKAAQEAFCKRAQINSLACRGQYVTSGKTDTAATQ

Zebrafish                     KGQAANKKASQDAFVTRAKINSLASKGEYKPSGQAGQASTQ
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 317 – 317 N6-succinyllysine
Helix 321 – 338



Literature citations
A new aldolase B variant, N334K, is a common cause of hereditary fructose intolerance in Yugoslavia.
Cross N.C.P.; Stojanov L.M.; Cox T.M.;
Nucleic Acids Res. 18:1925-1925(1990)
Cited for: VARIANT HFI LYS-335; 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;
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.