Variant position: 299 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1235 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 TKNEIISKLQGRYGCCRFLR DGYKTPREDPNRLHYDPAELK
Mouse TKNEIISKLQGRYGCCRFLR DGYKTPREDPHRLHYDPAELK
Rabbit TKSEIISKLQGRYGCCRFLR DGYKTPREDPNRLHYDPAELK
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 – 1235 Phosphorylase b kinase regulatory subunit alpha, liver isoform
Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2).
Burwinkel B.; Shin Y.S.; Bakker H.D.; Deutsch J.; Lozano M.J.; Maire I.; Kilimann M.W.;
Hum. Mol. Genet. 5:653-658(1996)
Cited for: VARIANTS GSD9A PRO-132; TYR-132; HIS-186 AND GLY-299;
Glycogen storage disease type IX: High variability in clinical phenotype.
Beauchamp N.J.; Dalton A.; Ramaswami U.; Niinikoski H.; Mention K.; Kenny P.; Kolho K.L.; Raiman J.; Walter J.; Treacy E.; Tanner S.; Sharrard M.;
Mol. Genet. Metab. 92:88-99(2007)
Cited for: VARIANTS GSD9A TYR-ASN-THR-ALA-THR-120 INS; GLY-299; LEU-498; ARG-869; TRP-916; ARG-1070 DEL AND ILE-1113;
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