Variant position: 186 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 QNLVFYIEAAYKVADYGMWE RGDKTNQGIPELNASSVGMAK
Mouse QNLVFYIEAAYKVADYGMWE RGDKTNQGIPELNASSVGVAK
Rabbit QNLVFYIEAAYKVADYGMWE RGDKTNQGIPELNASSVGMAK
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
Complete genomic structure and mutational spectrum of PHKA2 in patients with X-linked liver glycogenosis type I and II.
Hendrickx J.; Lee P.; Keating J.P.; Carton D.; Sardharwalla I.B.; Tuchman M.; Baussan C.; Willems P.J.;
Am. J. Hum. Genet. 64:1541-1549(1999)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS GSD9A CYS-186; HIS-186; 189-LYS-THR-190 DEL; HIS-295 AND LYS-1125;
X-linked liver glycogenosis type II (XLG II) is caused by mutations in PHKA2, the gene encoding the liver alpha subunit of phosphorylase kinase.
Hendrickx J.; Dams E.; Coucke P.; Lee P.; Fernandes J.; Willems P.J.;
Hum. Mol. Genet. 5:649-652(1996)
Cited for: VARIANTS GSD9A CYS-186; THR-251 DEL; THR-ARG-1111 INS AND ILE-1114;
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.