Variant position: 485 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 FLIEFDGVQSAGD-DRVLVMG ATNRPQELDEAVLRRFIKRVY
Mouse FLIEFDGVQSAGD-DRVLVMG ATNRPQELDEAVLRRFIKRV
Rat FLIEFDGVQSAGD-DRVLVMG ATNRPQELDEAVLRRFIKRV
Pig FLIEFDGVQSAGD-DRVLVMG ATNRPQELDEAVLRRFIKRV
Bovine FLIEFDGVQSAGD-DRVLVMG ATNRPQELDEAVLRRFTKRV
Chicken FLIEFDGVQSSGE-DRILVMG ATNRPQELDDAVLRRFTKRV
Xenopus laevis FLIEFDGVQSGGD-DRVLVMG ATNRPQELDDAVLRRFTKRV
Xenopus tropicalis FLIEFDGVQSGGD-DRVLVMG ATNRPQELDDAVLRRFTKRV
Zebrafish FLIEFDGVQSGGD-ERVLVMG ATNRPQELDEAVLRRFAKRI
Caenorhabditis elegans FLVQFDGATSSAD-DRILVIG ATNRPHELDDAVLRRFPKRI
Drosophila FLVEFDGLPGNPDGDRIVVLA ATNRPQELDEAALRRFTKRV
Slime mold ILVQFDGARTNGD-ERVLVMG ATNRPEDLDDAALRRLVKRI
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.