Variant position: 512 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 LDEAVLRRFIKRVYVSLPNE ETRLLLLKNLLCKQG--SPLTQK
Mouse LDEAVLRRFIKRVYVSLPNE ETRLLLLKNLLCKQG--SPLT
Rat LDEAVLRRFIKRVYVSLPNE ETRLLLLKNLLCKQG--SPLT
Pig LDEAVLRRFIKRVYVSLPNE ETRLLLLKNLLCKQG--SPLT
Bovine LDEAVLRRFTKRVYVSLPNE ETRLLLLKNLLCKQG--SPLT
Chicken LDDAVLRRFTKRVYVSLPNE ETRLILLKNLLSKQG--SPLT
Xenopus laevis LDDAVLRRFTKRVYVALPNE ETRLVLLKNLLSKQG--NPLS
Xenopus tropicalis LDDAVLRRFTKRVYVSLPNE ETRLLLLKNLLSKQG--NPLN
Zebrafish LDEAVLRRFAKRIYVALPTE ETRLKLLKNLLSKHR--NPLS
Caenorhabditis elegans LDDAVLRRFPKRIMLNLPDE EARKELITKTLKKHNMMDGLI
Drosophila LDEAALRRFTKRVYVSLPDE QTRELLLNRLLQKQG--SPLD
Slime mold LDDAALRRLVKRIYVGLPEL ETRLQIIQHLLVGQR--HSLT
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.
Missense and splice site mutations in SPG4 suggest loss-of-function in dominant spastic paraplegia.
Patrono C.; Casali C.; Tessa A.; Cricchi F.; Fortini D.; Carrozzo R.; Siciliano G.; Bertini E.; Santorelli F.M.;
J. Neurol. 249:200-205(2002)
Cited for: VARIANT SPG4 ASP-512;
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.