Variant position: 366 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 GQDLAKQALQEIVILPSLRP ELFTGLRAPARGLLLFGPPGN
Mouse GQELAKQALQEIVILPSLRP ELFTGLRAPARGLLLFGPPGN
Rat GQELAKQALQEIVILPSLRP ELFTGLRAPARGLLLFGPPGN
Pig GQELAKQALQEIVILPSLRP ELFTGLRAPARGLLLFGPPGN
Bovine GQELAKQALQEIVILPSLRP ELFTGLRAPARGLLLFGPPGN
Chicken GQELAKQALQEIVILPSLRP ELFTGLRAPARGLLLFGPPGN
Xenopus laevis GQDLAKQALQEIVILPSIRP ELFTGLRAPARGLLLFGPPGN
Xenopus tropicalis GQDLAKQALQEIVILPSIRP ELFTGLRAPARGLLLFGPPGN
Zebrafish GQDLAKQALQEIVILPALRP ELFTGLRAPARGLLLFGPPGN
Caenorhabditis elegans GCHSAKAALEEAVILPALNP NLFKGLRQPVKGILLFGPPGN
Drosophila GQDVAKQALQEMVILPSVRP ELFTGLRAPAKGLLLFGPPGN
Slime mold GLDKVKQSLMESVILPNLRP DVFTGLRAPPKGLLLFGPPGN
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.
Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia.
Chelban V.; Tucci A.; Lynch D.S.; Polke J.M.; Santos L.; Jonvik H.; Groppa S.; Wood N.W.; Houlden H.;
J. Neurol. Neurosurg. Psych. 88:681-687(2017)
Cited for: VARIANTS SPG4 LYS-328; LYS-366; LEU-368; VAL-368; THR-372; TYR-386; THR-390; ALA-418; TYR-470; THR-485; MET-498 AND 546-GLY--VAL-616 DEL;
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.