Variant position: 614 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 616 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 RSVSPQTLEAYIRWNKDFGD TT-V
Mouse RSVSPQTLEAYIRWNKDFGD TT-
Rat RSVSPQTLEAYIRWNKDFGD TT-
Pig RSVSPQTLEAYIRWNKDFGD TT-
Bovine RSVSPQTLEAYIRWNKDFGD TT-
Chicken RSLSPQTLEAYIRWNKDFGD TT-
Xenopus laevis CSVSHSTLESYIRWNQDFGD TT-
Xenopus tropicalis CSVSPSTLESYIRWNKEFGD TT-
Zebrafish RSVSPQTLDQYVRWNREYGD TTG
Caenorhabditis elegans PSTSQKIMSKLSDFSRSFG- ---
Drosophila RSVAPQSLNSYEKWSQDYGD IT-
Slime mold PSVTSQSLKSFEKWNQKFGT ---
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 – 616 Spastin
78 – 616 Cytoplasmic
228 – 616 Sufficient for microtubule severing
597 – 597 Phosphoserine
A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts.
Orlacchio A.; Gaudiello F.; Totaro A.; Floris R.; St George-Hyslop P.H.; Bernardi G.; Kawarai T.;
Cited for: VARIANT SPG4 ILE-614;
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