Variant position: 470 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 RREGEHDASRRLKTEFLIEF DGVQSAGD-DRVLVMGATNRPQ
Mouse RREGEHDASRRLKTEFLIEF DGVQSAGD-DRVLVMGATNRP
Rat RREGEHDASRRLKTEFLIEF DGVQSAGD-DRVLVMGATNRP
Pig RREGEHDASRRLKTEFLIEF DGVQSAGD-DRVLVMGATNRP
Bovine RREGEHDASRRLKTEFLIEF DGVQSAGD-DRVLVMGATNRP
Chicken RREGEHDASRRLKTEFLIEF DGVQSSGE-DRILVMGATNRP
Xenopus laevis RREGEHDASRRLKTEFLIEF DGVQSGGD-DRVLVMGATNRP
Xenopus tropicalis RREGEHDASRRLKTEFLIEF DGVQSGGD-DRVLVMGATNRP
Zebrafish RREGEHDASRRLKTEFLIEF DGVQSGGD-ERVLVMGATNRP
Caenorhabditis elegans RSEKDAEVSRRMKTEFLVQF DGATSSAD-DRILVIGATNRP
Drosophila RSSSEHEASRRLKTEFLVEF DGLPGNPDGDRIVVLAATNRP
Slime mold RSSNESEASRRLKTEILVQF DGARTNGD-ERVLVMGATNRP
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
451 – 451 R -> G. Abrogates binding to the tail of alpha-tubulin and beta-3-tubulin, impairs ATPase activity and abolishes microtubule severing.
457 – 457 A -> E. Abrogates binding to the tail of alpha-tubulin and beta-3-tubulin and abolishes microtubule severing.
458 – 472
Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations.
Svenson I.K.; Kloos M.T.; Gaskell P.C.; Nance M.A.; Garbern J.Y.; Hisanaga S.; Pericak-Vance M.A.; Ashley-Koch A.E.; Marchuk D.A.;
Cited for: VARIANTS SPG4 VAL-470 AND GLY-562; VARIANTS LEU-44 AND GLN-45;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.