Sequence information
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:
NAGFKETRASERAEMMELND
R FASYIEKVRFLEQQNKALAA
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 NAGFKETRASERAEMMELNDR FASYIEKVRFLEQQNKALAA
Mouse NAGFKETRASERAEMMELNDR FASYIEKVRFLEQQNKALAA
Rat NAGFKETRASERAEMMELNDR FASYIEKVRFLEQQNKALAA
Bovine NSGFKETRASERAEMMELNDR FASYIEKVRFLEQQNKALAA
Zebrafish KAQYRETRTNEKVEMMGLNDR FASYIEKVRFLEQQNKMLVA
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 – 432
Glial fibrillary acidic protein
Domain
69 – 377
IF rod
Region
73 – 104
Coil 1A
Modified residue
82 – 82
Phosphoserine
Literature citations
Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease.
Brenner M.; Johnson A.B.; Boespflug-Tanguy O.; Rodriguez D.; Goldman J.E.; Messing A.;
Nat. Genet. 27:117-120(2001)
Cited for: INVOLVEMENT IN ALXDRD; VARIANTS ALXDRD CYS-79; HIS-79; CYS-239; HIS-239; PRO-258 AND TRP-416; VARIANTS LEU-47 AND ASN-295;
Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation.
Rodriguez D.; Gauthier F.; Bertini E.; Bugiani M.; Brenner M.; N'guyen S.; Goizet C.; Gelot A.; Surtees R.; Pedespan J.M.; Hernandorena X.; Troncoso M.; Uziel G.; Messing A.; Ponsot G.; Pham-Dinh D.; Dautigny A.; Boespflug-Tanguy O.;
Am. J. Hum. Genet. 69:1134-1140(2001)
Cited for: VARIANTS ALXDRD PHE-76; TYR-77; HIS-79; CYS-88; SER-88; CYS-239 AND HIS-239;
Molecular findings in symptomatic and pre-symptomatic Alexander disease patients.
Gorospe J.R.; Naidu S.; Johnson A.B.; Puri V.; Raymond G.V.; Jenkins S.D.; Pedersen R.C.; Lewis D.; Knowles P.; Fernandez R.; De Vivo D.; van der Knaap M.S.; Messing A.; Brenner M.; Hoffman E.P.;
Neurology 58:1494-1500(2002)
Cited for: VARIANTS ALXDRD ARG-73; GLY-79; CYS-79; HIS-79; CYS-88; CYS-239; ASP-242; LYS-373 AND TRP-416;
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;
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.