Variant position: 620 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1159 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 INQANSPDLLSVSQYYSGEL VSYVRKVLQIIPESMFTSLLK
Mouse INQANSPDLLSVSQYYSGEL VSYVRKVLQIIPESMFTSLLK
Xenopus tropicalis INQANSPDLLSVSQYYSGEL VFYVRKVLQIIPESMFTSLAK
Zebrafish INQVNSPDLLSVSQFYSGEL VAYVRKVLQIIPESMFTSLAK
Drosophila INQARSEDLVSVSNYYSTEL ANFLRRVLQIVPETMFSILAK
Slime mold IAQCSSPDLISVSEYYSGEL VGYVRKVLEIVPKQMFLILKQ
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 – 1159 WASH complex subunit 5
A novel strumpellin mutation and potential pitfalls in the molecular diagnosis of hereditary spastic paraplegia type SPG8.
Jahic A.; Kreuz F.; Zacher P.; Fiedler J.; Bier A.; Reif S.; Rieger M.; Krueger S.; Beetz C.; Plaschke J.;
J. Neurol. Sci. 347:372-374(2014)
Cited for: VARIANT SPG8 ALA-620;
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