Variant position: 503 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 MGATNRPQELDEAVLRRFIK RVYVSLPNEETRLLLLKNLLC
Mouse MGATNRPQELDEAVLRRFIK RVYVSLPNEETRLLLLKNLLC
Rat MGATNRPQELDEAVLRRFIK RVYVSLPNEETRLLLLKNLLC
Pig MGATNRPQELDEAVLRRFIK RVYVSLPNEETRLLLLKNLLC
Bovine MGATNRPQELDEAVLRRFTK RVYVSLPNEETRLLLLKNLLC
Chicken MGATNRPQELDDAVLRRFTK RVYVSLPNEETRLILLKNLLS
Xenopus laevis MGATNRPQELDDAVLRRFTK RVYVALPNEETRLVLLKNLLS
Xenopus tropicalis MGATNRPQELDDAVLRRFTK RVYVSLPNEETRLLLLKNLLS
Zebrafish MGATNRPQELDEAVLRRFAK RIYVALPTEETRLKLLKNLLS
Caenorhabditis elegans IGATNRPHELDDAVLRRFPK RIMLNLPDEEARKELITKTLK
Drosophila LAATNRPQELDEAALRRFTK RVYVSLPDEQTRELLLNRLLQ
Slime mold MGATNRPEDLDDAALRRLVK RIYVGLPELETRLQIIQHLLV
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.
Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia.
Crippa F.; Panzeri C.; Martinuzzi A.; Arnoldi A.; Redaelli F.; Tonelli A.; Baschirotto C.; Vazza G.; Mostacciuolo M.L.; Daga A.; Orso G.; Profice P.; Trabacca A.; D'Angelo M.G.; Comi G.P.; Galbiati S.; Lamperti C.; Bonato S.; Pandolfo M.; Meola G.; Musumeci O.; Toscano A.; Trevisan C.P.; Bresolin N.; Bassi M.T.;
Arch. Neurol. 63:750-755(2006)
Cited for: VARIANTS SPG4 VAL-195; VAL-406; GLY-493; HIS-499; TRP-503 AND CYS-607;
Novel and recurrent spastin mutations in a large series of SPG4 Italian families.
Nanetti L.; Baratta S.; Panzeri M.; Tomasello C.; Lovati C.; Azzollini J.; Gellera C.; Di Bella D.; Taroni F.; Mariotti C.;
Neurosci. Lett. 528:42-45(2012)
Cited for: VARIANTS SPG4 THR-95; 112-GLU--VAL-616 DEL; 135-GLU--VAL-616 DEL; LEU-399; ARG-406; THR-409; VAL-426; 431-ARG--VAL-616 DEL; CYS-460; TRP-503; ARG-559 AND 562-ARG--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.