Variant position: 344 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 LANLIMNEIVDNGTAVKFDD IAGQDLAKQALQEIVILPSLR
Mouse LANLIMNEIVDNGTAVKFDD IAGQELAKQALQEIVILPSLR
Rat LANLIMNEIVDNGTAVKFDD IAGQELAKQALQEIVILPSLR
Pig LANFIMNEIVDNGTAVKFDD IAGQELAKQALQEIVILPSLR
Bovine LANLIMNEIVDNGTAVKFDD IAGQELAKQALQEIVILPSLR
Chicken LANLILNEIVDSGPAVKFDD IAGQELAKQALQEIVILPSLR
Xenopus laevis LANLILNEIVDSGPSVKFAD IAGQDLAKQALQEIVILPSIR
Xenopus tropicalis LANLILNEIVDSGPTVKFAD IAGQDLAKQALQEIVILPSIR
Zebrafish LASLILNEIVDSGSVVRFDD IAGQDLAKQALQEIVILPALR
Caenorhabditis elegans IGERLLDEVLDN-TGVRMDD VAGCHSAKAALEEAVILPALN
Drosophila LVQLILDEIVEGGAKVEWTD IAGQDVAKQALQEMVILPSVR
Slime mold MVTLIMNEIMDRKNPVKWDD VVGLDKVKQSLMESVILPNLR
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;
A novel missense mutation (I344K) in the SPG4gene in a Korean family with autosomal-dominant hereditary spastic paraplegia.
Ki C.S.; Lee W.Y.; Han do H.; Sung D.H.; Lee K.B.; Lee K.A.; Cho S.S.; Cho S.; Hwang H.; Sohn K.M.; Choi Y.J.; Kim J.W.;
J. Hum. Genet. 47:473-477(2002)
Cited for: VARIANT SPG4 LYS-344;
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