Variant position: 700 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 797 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 QGDMVLEKPYSEATARLIDD EVRILINDAYKRTVALLTEKK
Mouse QGDMVLEKPYSEATARMIDD EVRILISDAYRRTVALLTEKK
Bovine QGDMVLEKPYSEATARLIDD EVRILINDAYKRTVALLTEKK
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.
Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation.
Edener U.; Wollner J.; Hehr U.; Kohl Z.; Schilling S.; Kreuz F.; Bauer P.; Bernard V.; Gillessen-Kaesbach G.; Zuhlke C.;
Eur. J. Hum. Genet. 18:965-968(2010)
Cited for: VARIANT SCA28 LYS-700;
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