Variant position: 189 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 VFYIEAAYKVADYGMWERGD KTNQGIPELNASSVGMAKAAL
Mouse VFYIEAAYKVADYGMWERGD KTNQGIPELNASSVGVAKAAL
Rabbit VFYIEAAYKVADYGMWERGD KTNQGIPELNASSVGMAKAAL
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
Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene.
Burwinkel B.; Amat L.; Gray R.G.; Matsuo N.; Muroya K.; Narisawa K.; Sokol R.J.; Vilaseca M.A.; Kilimann M.W.;
Hum. Genet. 102:423-429(1998)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 178-206; VARIANTS GSD9A GLU-189; SER-399; 818-GLN--TYR-825 DEL; 953-ASN--LEU-954 DELINS ILE AND TRP-1207;
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