Variant position: 309 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 HKGTP-KTNRTNKPSTPTTAT RKKKDLKNFRNVDSNLANLIM
Mouse HKGTP-KPNRTNKPSTPTTAV RKKKDLKNFRNVDSNLANLI
Rat HKGTS-KPNRTNKPSTPTTAV RKKKDLKNFRNVDSNLANLI
Pig HKSTP-KTNRTNKPSTPTTAP RKKKDLKNFRNVDSNLANFI
Bovine HKSTP-KTNRTNKPSTPTTAA RKKKDLKNFRNVDSNLANLI
Chicken HKAAP-KNSRTNKPSTPTPAA RKKKDTKVFRNVDSNLANLI
Xenopus laevis RGATGKNNTRTNKPATPTTAV R-KKDMKNLRNVDSNLANLI
Xenopus tropicalis RGAAGKNNTRTNKPTTPTTAV R-KKDMKNLRNVDSNLANLI
Zebrafish KGPTVKGKNNVKASTTATASP QRKRDMKNFKNVDSKLASLI
Caenorhabditis elegans RKMETVKRVKVDKASLPMHQN PVNRAAL-LNGVDKVIGERL
Drosophila RSRTPINNNGPSGSGASTPVV S-------VKGVEQKLVQLI
Slime mold SSTTLSLKKSSNSTNFQQPSP P-SMVIPDIKGIDKSMVTLI
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
270 – 328 Required for interaction with microtubules and microtubule severing
309 – 312 Nuclear localization signal
306 – 306 Phosphothreonine
First mutation in the nuclear localization signal sequence of spastin protein identified in a patient with hereditary spastic paraplegia.
Magariello A.; Tortorella C.; Patitucci A.; Tortelli R.; Liguori M.; Mazzei R.; Conforti F.L.; Citrigno L.; Ungaro C.; Simone I.L.; Muglia M.;
Eur. J. Neurol. 20:E22-E23(2013)
Cited for: VARIANT SPG4 HIS-309;
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.