Sequence information
Variant position: 12 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 594 The length of the canonical sequence.
Location on the sequence:
MASSTPSSSAT
S SNAGADPNTTNLRPTTYDTW
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 MASSTPSSSATS SNAGADPNTTNLRPTTYDTW
MASSTPSSSATS SNAGADPNTANLRPTTYDTW
Chimpanzee MASSTPSSSATS SNAGADPNTTNLRPTTYDTW
Mouse MASSTP-SPATS SNAGADPNTTNLRPTTYDTW
Rat MASSTP-SPATS SNAGADPNTTNLRPTTYDTW
Pig MASSTPSSSATS SNAGPDPNTTNLRPTTYDTW
Bovine MASSTPSSSATS SNAGADPNTTNLRPTTYDTW
Cat MASSTPSSSATS SNAGADPNTTNLRPTTYDTW
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
Chain
1 – 594
Glutamate decarboxylase 1
Region
1 – 23
Disordered
Literature citations
Homozygosity for a missense mutation in the 67 kDa isoform of glutamate decarboxylase in a family with autosomal recessive spastic cerebral palsy: parallels with Stiff-Person Syndrome and other movement disorders.
Lynex C.N.; Carr I.M.; Leek J.P.; Achuthan R.; Mitchell S.; Maher E.R.; Woods C.G.; Bonthon D.T.; Markham A.F.;
BMC Neurol. 4:20-20(2004)
Cited for: VARIANT CYS-12;
Evidence that autosomal recessive spastic cerebral palsy-1 (CPSQ1) is caused by a missense variant in HPDL.
Morgan N.V.; Yngvadottir B.; O'Driscoll M.; Clark G.R.; Walsh D.; Martin E.; Tee L.; Reid E.; Titheradge H.L.; Maher E.R.;
Brain Commun. 3:fcab002-fcab002(2021)
Cited for: VARIANT CYS-12;
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.