Sequence information
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:
LANLIMNEIVDNGTAVKFDD
I AGQDLAKQALQEIVILPSLR
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 LANLIMNEIVDNGTAVKFDDI AGQDLAKQALQEIVILPSLR
Mouse LANLIMNEIVDNGTAVKFDDI AGQELAKQALQEIVILPSLR
Rat LANLIMNEIVDNGTAVKFDDI AGQELAKQALQEIVILPSLR
Pig LANFIMNEIVDNGTAVKFDDI AGQELAKQALQEIVILPSLR
Bovine LANLIMNEIVDNGTAVKFDDI AGQELAKQALQEIVILPSLR
Chicken LANLILNEIVDSGPAVKFDDI AGQELAKQALQEIVILPSLR
Xenopus laevis LANLILNEIVDSGPSVKFADI AGQDLAKQALQEIVILPSIR
Xenopus tropicalis LANLILNEIVDSGPTVKFADI AGQDLAKQALQEIVILPSIR
Zebrafish LASLILNEIVDSGSVVRFDDI AGQDLAKQALQEIVILPALR
Caenorhabditis elegans IGERLLDEVLDN-TGVRMDDV AGCHSAKAALEEAVILPALN
Drosophila LVQLILDEIVEGGAKVEWTDI AGQDVAKQALQEMVILPSVR
Slime mold MVTLIMNEIMDRKNPVKWDDV VGLDKVKQSLMESVILPNLR
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
Chain
1 – 616
Spastin
Topological domain
78 – 616
Cytoplasmic
Region
228 – 616
Sufficient for microtubule severing
Literature citations
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;
Disclaimer:
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.