Variant position: 116 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 346 The length of the canonical sequence.
Location on the sequence:
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: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human QVHQFPSSCETGPGSPSGHC MITGAALWPIMTALSSQVATR
Mouse QIHQFPSSCETGPGSPSGHC MITGAALWPVMTAISSQVASR
Rat QIHQFPSSCETGPGSPSGHC MITGAALWPVMIAISSQVASQ
Bovine QVHQFPSSCETGPGSPSGHC MITGAALWPIMTAVSSQMATR
Zebrafish EVQQFQSTCESGPGSPSGHA MVTSAVWWVIISSLASFSQAY
Sequence annotation in neighborhood: 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.
Type Positions Description
1 – 346 Glucose-6-phosphatase 3
115 – 135 Helical
114 – 114 Proton donor
114 – 114 H -> A. Loss of catalytic activity.
Digenic mutations in severe congenital neutropenia.
Germeshausen M.; Zeidler C.; Stuhrmann M.; Lanciotti M.; Ballmaier M.; Welte K.;
Cited for: VARIANTS SCN4 LYS-116; GLN-189 AND ARG-260;
Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia.
Boztug K.; Rosenberg P.S.; Dorda M.; Banka S.; Moulton T.; Curtin J.; Rezaei N.; Corns J.; Innis J.W.; Avci Z.; Tran H.C.; Pellier I.; Pierani P.; Fruge R.; Parvaneh N.; Mamishi S.; Mody R.; Darbyshire P.; Motwani J.; Murray J.; Buchanan G.R.; Newman W.G.; Alter B.P.; Boxer L.A.; Donadieu J.; Welte K.; Klein C.;
J. Pediatr. 160:679-683(2012)
Cited for: VARIANTS SCN4 LEU-44; LYS-116; ILE-139; GLN-161; HIS-253; ARG-260 AND ASP-260;
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;
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.