Variant position: 79 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 432 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 NAGFKETRASERAEMMELND RFASYIEKVRFLEQQNKALAA
Mouse NAGFKETRASERAEMMELND RFASYIEKVRFLEQQNKALAA
Rat NAGFKETRASERAEMMELND RFASYIEKVRFLEQQNKALAA
Bovine NSGFKETRASERAEMMELND RFASYIEKVRFLEQQNKALAA
Zebrafish KAQYRETRTNEKVEMMGLND RFASYIEKVRFLEQQNKMLVA
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 – 432 Glial fibrillary acidic protein
69 – 377 IF rod
73 – 104 Coil 1A
82 – 82 Phosphoserine
Molecular genetic study in Japanese patients with Alexander disease: a novel mutation, R79L.
Shiroma N.; Kanazawa N.; Kato Z.; Shimozawa N.; Imamura A.; Ito M.; Ohtani K.; Oka A.; Wakabayashi K.; Iai M.; Sugai K.; Sasaki M.; Kaga M.; Ohta T.; Tsujino S.;
Brain Dev. 25:116-121(2003)
Cited for: VARIANT ALXDRD LEU-79;
Follow-up study of 22 Chinese children with Alexander disease and analysis of parental origin of de novo GFAP mutations.
Zang L.; Wang J.; Jiang Y.; Gu Q.; Gao Z.; Yang Y.; Xiao J.; Wu Y.;
J. Hum. Genet. 58:183-188(2013)
Cited for: VARIANTS ALXDRD PHE-76; LYS-77; LEU-79; HIS-79; CYS-79; CYS-88; SER-88; CYS-239; HIS-239; ASP-373; GLN-374 AND PHE-385;
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.