Variant position: 482 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 KTEFLIEFDGVQSAGD-DRVL VMGATNRPQELDEAVLRRFIK
Mouse KTEFLIEFDGVQSAGD-DRVL VMGATNRPQELDEAVLRRFI
Rat KTEFLIEFDGVQSAGD-DRVL VMGATNRPQELDEAVLRRFI
Pig KTEFLIEFDGVQSAGD-DRVL VMGATNRPQELDEAVLRRFI
Bovine KTEFLIEFDGVQSAGD-DRVL VMGATNRPQELDEAVLRRFT
Chicken KTEFLIEFDGVQSSGE-DRIL VMGATNRPQELDDAVLRRFT
Xenopus laevis KTEFLIEFDGVQSGGD-DRVL VMGATNRPQELDDAVLRRFT
Xenopus tropicalis KTEFLIEFDGVQSGGD-DRVL VMGATNRPQELDDAVLRRFT
Zebrafish KTEFLIEFDGVQSGGD-ERVL VMGATNRPQELDEAVLRRFA
Caenorhabditis elegans KTEFLVQFDGATSSAD-DRIL VIGATNRPHELDDAVLRRFP
Drosophila KTEFLVEFDGLPGNPDGDRIV VLAATNRPQELDEAALRRFT
Slime mold KTEILVQFDGARTNGD-ERVL VMGATNRPEDLDDAALRRLV
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.
Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations.
de Bot S.T.; van den Elzen R.T.; Mensenkamp A.R.; Schelhaas H.J.; Willemsen M.A.; Knoers N.V.; Kremer H.P.; van de Warrenburg B.P.; Scheffer H.;
J. Neurol. Neurosurg. Psych. 81:1073-1078(2010)
Cited for: VARIANTS SPG4 ILE-162; LYS-356; SER-365; ARG-382; ILE-; PHE-422; ASN-445; SER-460; LEU-482; GLU-512 DEL; VAL-534 AND PRO-562; VARIANT LEU-44;
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.