Variant position: 314 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 KTNRTNKPSTPTTATRKKKD LKNFRNVDSNLANLIMNEIVD
Mouse KPNRTNKPSTPTTAVRKKKD LKNFRNVDSNLANLIMNEIVD
Rat KPNRTNKPSTPTTAVRKKKD LKNFRNVDSNLANLIMNEIVD
Pig KTNRTNKPSTPTTAPRKKKD LKNFRNVDSNLANFIMNEIVD
Bovine KTNRTNKPSTPTTAARKKKD LKNFRNVDSNLANLIMNEIVD
Chicken KNSRTNKPSTPTPAARKKKD TKVFRNVDSNLANLILNEIVD
Xenopus laevis NNTRTNKPATPTTAVR-KKD MKNLRNVDSNLANLILNEIVD
Xenopus tropicalis NNTRTNKPTTPTTAVR-KKD MKNLRNVDSNLANLILNEIVD
Zebrafish GKNNVKASTTATASPQRKRD MKNFKNVDSKLASLILNEIVD
Caenorhabditis elegans KRVKVDKASLPMHQNPVNRA AL-LNGVDKVIGERLLDEVLD
Drosophila NNNGPSGSGASTPVVS---- ---VKGVEQKLVQLILDEIVE
Slime mold LKKSSNSTNFQQPSPP-SMV IPDIKGIDKSMVTLIMNEIMD
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
306 – 306 Phosphothreonine
Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia.
McCorquodale D.S. III; Ozomaro U.; Huang J.; Montenegro G.; Kushman A.; Citrigno L.; Price J.; Speziani F.; Pericak-Vance M.A.; Zuchner S.;
Clin. Genet. 79:523-530(2011)
Cited for: VARIANTS SPG4 THR-97; ASP-201; SER-314; VAL-360; ALA-464; GLY-498 AND ILE-550;
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.