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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9BUM1: Variant p.Leu208Arg

Glucose-6-phosphatase 3
Gene: G6PC3
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Variant information Variant position: help 208 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 Leucine (L) to Arginine (R) at position 208 (L208R, p.Leu208Arg). 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 hydrophobic (L) 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 SCN4; complete loss of activity. Any additional useful information about the variant.


Sequence information Variant position: help 208 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 346 The length of the canonical sequence.
Location on the sequence: help PRVPMERELSFYGLTALALM L GTSLIYWTLFTLGLDLSWSI 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                         PRVPMERELSFYGLTALALMLGTSLIYWTLF-TLGLDLSWSI

Mouse                         PRVPMERELSFYGLTALALMLGASLMYWTLF-TLGLDLSWS

Rat                           PRVPMERELSFYGLTALTLMLGASLMYWTLF-TLGLDLSWS

Bovine                        PQVPMERELSFYGLTSLALLLGASLIYWTLF-TLGLDLSWS

Zebrafish                     RSVPERRPLLFFFRFSMAL-LGAALIFHAVLEKTGIDLSWS
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 – 346 Glucose-6-phosphatase 3
Transmembrane 198 – 218 Helical



Literature citations
Phenotypic heterogeneity and evidence of a founder effect associated with G6PC3 mutations in patients with severe congenital neutropenia.
Smith B.N.; Evans C.; Ali A.; Ancliff P.J.; Hayee B.; Segal A.W.; Hall G.; Kaya Z.; Shakoori A.R.; Linch D.C.; Gale R.E.;
Br. J. Haematol. 158:146-149(2012)
Cited for: VARIANTS SCN4 SER-44; 64-THR--ILE-70 DEL AND ARG-208; CHARACTERIZATION OF VARIANTS SCN4 SER-44 AND 64-THR--ILE-70 DEL; Functional analysis of mutations in a severe congenital neutropenia syndrome caused by glucose-6-phosphatase-beta deficiency.
Lin S.R.; Pan C.J.; Mansfield B.C.; Chou J.Y.;
Mol. Genet. Metab. 114:41-45(2015)
Cited for: CHARACTERIZATION OF VARIANTS SCN4 LEU-44; SER-44; ILE-116; LYS-116; THR-116; VAL-116; ARG-118; ILE-139; PRO-154; GLN-161; PRO-185; GLN-189; ARG-208; HIS-253; ARG-260 AND ASP-260;
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.