Variant position: 493 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 QSAGD-DRVLVMGATNRPQEL DEAVLRRFIKRVYVSLPNEET
Mouse QSAGD-DRVLVMGATNRPQEL DEAVLRRFIKRVYVSLPNEE
Rat QSAGD-DRVLVMGATNRPQEL DEAVLRRFIKRVYVSLPNEE
Pig QSAGD-DRVLVMGATNRPQEL DEAVLRRFIKRVYVSLPNEE
Bovine QSAGD-DRVLVMGATNRPQEL DEAVLRRFTKRVYVSLPNEE
Chicken QSSGE-DRILVMGATNRPQEL DDAVLRRFTKRVYVSLPNEE
Xenopus laevis QSGGD-DRVLVMGATNRPQEL DDAVLRRFTKRVYVALPNEE
Xenopus tropicalis QSGGD-DRVLVMGATNRPQEL DDAVLRRFTKRVYVSLPNEE
Zebrafish QSGGD-ERVLVMGATNRPQEL DEAVLRRFAKRIYVALPTEE
Caenorhabditis elegans TSSAD-DRILVIGATNRPHEL DDAVLRRFPKRIMLNLPDEE
Drosophila PGNPDGDRIVVLAATNRPQEL DEAALRRFTKRVYVSLPDEQ
Slime mold RTNGD-ERVLVMGATNRPEDL DDAALRRLVKRIYVGLPELE
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
Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia.
Crippa F.; Panzeri C.; Martinuzzi A.; Arnoldi A.; Redaelli F.; Tonelli A.; Baschirotto C.; Vazza G.; Mostacciuolo M.L.; Daga A.; Orso G.; Profice P.; Trabacca A.; D'Angelo M.G.; Comi G.P.; Galbiati S.; Lamperti C.; Bonato S.; Pandolfo M.; Meola G.; Musumeci O.; Toscano A.; Trevisan C.P.; Bresolin N.; Bassi M.T.;
Arch. Neurol. 63:750-755(2006)
Cited for: VARIANTS SPG4 VAL-195; VAL-406; GLY-493; HIS-499; TRP-503 AND CYS-607;
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.