Sequence information
Variant position: 88 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:
SERAEMMELNDRFASYIEKV
R FLEQQNKALAAELNQLRAKE
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 SERAEMMELNDRFASYIEKVR FLEQQNKALAAELNQLRAKE
Mouse SERAEMMELNDRFASYIEKVR FLEQQNKALAAELNQLRAKE
Rat SERAEMMELNDRFASYIEKVR FLEQQNKALAAELNQLRAKE
Bovine SERAEMMELNDRFASYIEKVR FLEQQNKALAAELNQLRAKE
Zebrafish NEKVEMMGLNDRFASYIEKVR FLEQQNKMLVAELNQLRGKE
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
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;
Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease.
Li R.; Johnson A.B.; Salomons G.; Goldman J.E.; Naidu S.; Quinlan R.; Cree B.; Ruyle S.Z.; Banwell B.; D'Hooghe M.; Siebert J.R.; Rolf C.M.; Cox H.; Reddy A.; Gutierrez-Solana L.G.; Collins A.; Weller R.O.; Messing A.; van der Knaap M.S.; Brenner M.;
Ann. Neurol. 57:310-326(2005)
Cited for: VARIANTS LEU-47; ILE-115; ASN-157 AND GLN-223; VARIANTS ALXDRD GLN-63; THR-73; PHE-76; VAL-76; SER-77; CYS-79; CYS-88; PRO-97; LYS-207; GLN-207; LYS-210; PRO-235; CYS-239; HIS-239; PRO-239; VAL-244; GLY-253; GLU-279; PRO-352; VAL-359; PRO-364; HIS-366; LYS-373; GLN-373; GLY-374 AND TRP-416; CHARACTERIZATION OF VARIANTS ALXDRD GLN-63; LYS-210; VAL-244 AND GLY-253; CHARACTERIZATION OF VARIANT ILE-115;
GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease.
Caroli F.; Biancheri R.; Seri M.; Rossi A.; Pessagno A.; Bugiani M.; Corsolini F.; Savasta S.; Romano S.; Antonelli C.; Romano A.; Pareyson D.; Gambero P.; Uziel G.; Ravazzolo R.; Ceccherini I.; Filocamo M.;
Clin. Genet. 72:427-433(2007)
Cited for: VARIANTS ALXDRD TRP-70; GLN-70; LYS-73; SER-77; CYS-79; PRO-79; CYS-88; HIS-239; PRO-239; PRO-359 AND TRP-416;
Clinical and genetic study in Chinese patients with Alexander disease.
Ye W.; Qiang G.; Jingmin W.; Yanling Y.; Xiru W.; Yuwu J.;
J. Child Neurol. 23:173-177(2008)
Cited for: VARIANTS ALXDRD HIS-83 AND CYS-88;
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.