Variant position: 90 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 RAEMMELNDRFASYIEKVRF LEQQNKALAAELNQLRAKEPT
Mouse RAEMMELNDRFASYIEKVRF LEQQNKALAAELNQLRAKEPT
Rat RAEMMELNDRFASYIEKVRF LEQQNKALAAELNQLRAKEPT
Bovine RAEMMELNDRFASYIEKVRF LEQQNKALAAELNQLRAKEPT
Zebrafish KVEMMGLNDRFASYIEKVRF LEQQNKMLVAELNQLRGKEPS
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
110 – 110 Phosphothreonine
A case of infantile Alexander disease with a milder phenotype and a novel GFAP mutation, L90P.
Suzuki Y.; Kanazawa N.; Takenaka J.; Okumura A.; Negoro T.; Tsujino S.;
Brain Dev. 26:206-208(2004)
Cited for: VARIANT ALXDRD PRO-90;
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