Variant position: 293 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 SMVSGVKQG--SGPAPTTHKGT P-KTNRTNKPSTPTTATRKKKD
Mouse SMVSGARPG--PGPAATTHKGT P-KPNRTNKPSTPTTAVRK
Rat SMVSGARPG--SGPAATTHKGT S-KPNRTNKPSTPTTAVRK
Pig SIVSGMRQG--PGPTTATHKST P-KTNRTNKPSTPTTAPRK
Bovine SMVSGVRQG--PGSAAATHKST P-KTNRTNKPSTPTTAARK
Chicken STASVSRPA--ANPATSTHKAA P-KNSRTNKPSTPTPAARK
Xenopus laevis PTSARQA----GAHTPSNRGAT GKNNTRTNKPATPTTAVR-
Xenopus tropicalis SSSARQA----GPNAPSNRGAA GKNNTRTNKPTTPTTAVR-
Zebrafish NCTPSAAQSSRTGPQNNQKGPT VKGKNNVKASTTATASPQR
Caenorhabditis elegans DTVHPEPP-----VQASNRKME TVKRVKVDKASLPMHQNPV
Drosophila TPPAVRRQFSSGRNTPPQRSRT PINNNGPSGSGASTPVVS-
Slime mold NTSTITSPGNKYGLQKSLSSTT LSLKKSSNSTNFQQPSPP-
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
1 – 300 Required for interaction with RTN1
228 – 616 Sufficient for microtubule severing
270 – 328 Required for interaction with microtubules and microtubule severing
306 – 306 Phosphothreonine
Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia.
Alvarez V.; Sanchez-Ferrero E.; Beetz C.; Diaz M.; Alonso B.; Corao A.I.; Gamez J.; Esteban J.; Gonzalo J.F.; Pascual-Pascual S.I.; Lopez de Munain A.; Moris G.; Ribacoba R.; Marquez C.; Rosell J.; Marin R.; Garcia-Barcina M.J.; Del Castillo E.; Benito C.; Coto E.;
BMC Neurol. 10:89-89(2010)
Cited for: VARIANTS SPG4 THR-287 DEL; LEU-293; LEU-328; ARG-378; HIS-380; PRO-391; 393-LYS--ALA-396 DEL; THR-409; ARG-410; PRO-436; ASN-441; SER-460; ALA-463; PHE-492; GLY-498; ARG-503 INS; GLY-514 AND THR-580;
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.