Variant position: 347 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 LIMNEIVDNGTAVKFDDIAG QDLAKQALQEIVILPSLRPEL
Mouse LIMNEIVDNGTAVKFDDIAG QELAKQALQEIVILPSLRPEL
Rat LIMNEIVDNGTAVKFDDIAG QELAKQALQEIVILPSLRPEL
Pig FIMNEIVDNGTAVKFDDIAG QELAKQALQEIVILPSLRPEL
Bovine LIMNEIVDNGTAVKFDDIAG QELAKQALQEIVILPSLRPEL
Chicken LILNEIVDSGPAVKFDDIAG QELAKQALQEIVILPSLRPEL
Xenopus laevis LILNEIVDSGPSVKFADIAG QDLAKQALQEIVILPSIRPEL
Xenopus tropicalis LILNEIVDSGPTVKFADIAG QDLAKQALQEIVILPSIRPEL
Zebrafish LILNEIVDSGSVVRFDDIAG QDLAKQALQEIVILPALRPEL
Caenorhabditis elegans RLLDEVLDN-TGVRMDDVAG CHSAKAALEEAVILPALNPNL
Drosophila LILDEIVEGGAKVEWTDIAG QDVAKQALQEMVILPSVRPEL
Slime mold LIMNEIMDRKNPVKWDDVVG LDKVKQSLMESVILPNLRPDV
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
Linking axonal degeneration to microtubule remodeling by Spastin-mediated microtubule severing.
Evans K.J.; Gomes E.R.; Reisenweber S.M.; Gundersen G.G.; Lauring B.P.;
J. Cell Biol. 168:599-606(2005)
Cited for: FUNCTION; CATALYTIC ACTIVITY; BIOPHYSICOCHEMICAL PROPERTIES; INTERACTION WITH MICROTUBULES; SUBCELLULAR LOCATION; MUTAGENESIS OF LYS-388 AND GLU-442; CHARACTERIZATION OF VARIANTS SPG4 LYS-344; LYS-347; LYS-386; ARG-388 AND CYS-499;
Spastin gene mutation in Japanese with hereditary spastic paraplegia.
Yabe I.; Sasaki H.; Tashiro K.; Matsuura T.; Takegami T.; Satoh T.;
J. Med. Genet. 39:E46-E46(2002)
Cited for: VARIANTS SPG4 LYS-347; ARG-388 AND CYS-499;
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