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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P51570: Variant p.Gly36Arg

Galactokinase
Gene: GALK1
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Variant information Variant position: help 36 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 Glycine (G) to Arginine (R) at position 36 (G36R, p.Gly36Arg). 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 glycine (G) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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 GALAC2. Any additional useful information about the variant.


Sequence information Variant position: help 36 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 392 The length of the canonical sequence.
Location on the sequence: help ARRAFREEFGAEPELAVSAP G RVNLIGEHTDYNQGLVLPMA 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                         ARRAFREEFGAEPELAVSAPGRVNLIGEHTDYNQGLVLPMA

                              ARRAFREEFGAEPELAVSAPGRVNLIGEHTDYNQGLVLPMA

Mouse                         ARRAFMEEFGAEPELAVSAPGRVNLIGEHTDYNQGLVLPMA

Bovine                        ARRAFLEEFGAEPELAVSAPGRVNLIGEHTDYNRGLVLPMA
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 1 – 392 Galactokinase
Binding site 37 – 37
Binding site 43 – 43
Binding site 44 – 44
Binding site 46 – 46
Site 37 – 37 Transition state stabilizer
Beta strand 29 – 39



Literature citations
Novel mutations in 13 probands with galactokinase deficiency.
Kolosha V.; Anoia E.; de Cespedes C.; Gitzelmann R.; Shih L.; Casco T.; Saborio M.; Trejos R.; Buist N.; Tedesco T.; Skach W.; Mitelmann O.; Ledee D.; Huang K.; Stambolian D.;
Hum. Mutat. 15:447-453(2000)
Cited for: VARIANTS GALAC2 THR-28; ARG-36; TYR-44; SER-346 AND SER-349; Functional analysis of disease-causing mutations in human galactokinase.
Timson D.J.; Reece R.J.;
Eur. J. Biochem. 270:1767-1774(2003)
Cited for: CHARACTERIZATION OF VARIANTS GALAC2 THR-28; MET-32; ARG-36; TYR-44; CYS-68; VAL-198; MET-288; SER-346; SER-349 AND PRO-384; CATALYTIC ACTIVITY; FUNCTION; 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.