Sequence information
Variant position: 374 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:
NVKLALDIEIATYRKLLEGE
E NRITIPVQTFSNLQIRETSL
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 NVKLALDIEIATYRKLLEGEE NRITIPVQTFSNLQIRETSL
Mouse NVKLALDIEIATYRKLLEGEE NRITIPVQTFSNLQIRETSL
Rat NVKLALDIEIATYRKLLEGEE NRITIPVQTFSNLQIRETSL
Bovine NVKLALDIEIATYRKLLEGEE NRITIPVQTFSNLQIRETSL
Zebrafish NVKLALDIEIATYRKLLEGEE SRITVPVQNFTNLQFRDTSM
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.
Literature citations
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;
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.