Sequence information
Variant position: 416 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:
TKSVSEGHLKRNIVVKTVEM
R DGEVIKESKQEHKDVM
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 TKSVSEGHLKRNIVVKTVEMR DGEVIKESKQEHKDVM-
Mouse TKSVSEGHLKRNIVVKTVEMR DGEVIKDSKQEHKDVV
Rat TKSVSEGHLKRNIVVKTVEMR DGEVIKESKQEHKDVM
Bovine TKSVSEGHLKRNIVVKTVEMR DGEVIKESKQEHKDVM
Zebrafish TKLTPEAHVKRSIVVRTVETR DGEIIKESTTERKDLP
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
Region
378 – 432
Tail
Modified residue
406 – 406
Citrulline
Modified residue
416 – 416
Citrulline
Alternative sequence
391 – 432
ETSLDTKSVSEGHLKRNIVVKTVEMRDGEVIKESKQEHKDVM -> GGKSTKDGENHKVTRYLKSLTIRVIPIQAHQIVNGTPPARG. In isoform 2.
Alternative sequence
391 – 432
ETSLDTKSVSEGHLKRNIVVKTVEMRDGEVIKESKQEHKDVM -> GQYSRASWEGHWSPAPSSRACRLLQTGTEDQGKGIQLSLGAFVTLQRS. In isoform 3.
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;
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;
Diagnosis by whole exome sequencing of atypical infantile onset Alexander disease masquerading as a mitochondrial disorder.
Nishri D.; Edvardson S.; Lev D.; Leshinsky-Silver E.; Ben-Sira L.; Henneke M.; Lerman-Sagie T.; Blumkin L.;
Eur. J. Paediatr. Neurol. 18:495-501(2014)
Cited for: VARIANT ALXDRD TRP-416;
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.