Variant position: 145 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 247 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 IAMNGEGYLYPSELFTPECK FKESVFENYYVIYSSMLYRQQ
Mouse IAMNGEGYLYPSELFTPECK FKESVFENYYVIYSSMLYRQQ
Rat IAMNGEGYLYPSELFTPECK FKESVFENYYVIYSSMLYRQQ
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 – 247 Fibroblast growth factor 14
A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar (sic) ataxia.
van Swieten J.C.; Brusse E.; de Graaf B.M.; Krieger E.; van de Graaf R.; de Koning I.; Maat-Kievit A.; Leegwater P.; Dooijes D.; Oostra B.A.; Heutink P.;
Am. J. Hum. Genet. 72:191-199(2003)
Cited for: VARIANT SCA27 SER-145;
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