Variant position: 550 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 TQKELAQLARMTDGYSGSDL TALAKDAALGPIRELKPEQVK
Mouse TQKELAQLARMTDGYSGSDL TALAKDAALGPIRELKPEQVK
Rat TQKELAQLARMTDGYSGSDL TALAKDAALGPIRELKPEQVK
Pig TQKELAQLARLTDGYSGSDL TALAKDAALGPIRELKPEQVK
Bovine TQKELAQLARMTNGYSGSDL TALAKDAALGPIRELKPEQVK
Chicken TQKELAQLARMTDGYSGSDL TALAKDAALGPIRELKPEQVK
Xenopus laevis SEKELTQLSRLTEGYSGSDI TALAKDAALGPIRELKPEQVK
Xenopus tropicalis NEKELTQLSRLTEGYSGSDI TALAKDAALGPIRELKPEQVK
Zebrafish SQKELSQLARLTDGYSGSDL TSLAKDAALGPIRELKPEQVR
Caenorhabditis elegans ISSDIRYIASNTSGFSNSDL VALCKEAAMVPIREIDRSKLS
Drosophila DTEALRRLAKITDGYSGSDL TALAKDAALEPIRELNVEQVK
Slime mold TKQQINSLAEVTQGYSGFDL AALCKDAAYEPIRRLGIG-IK
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.
Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia.
McCorquodale D.S. III; Ozomaro U.; Huang J.; Montenegro G.; Kushman A.; Citrigno L.; Price J.; Speziani F.; Pericak-Vance M.A.; Zuchner S.;
Clin. Genet. 79:523-530(2011)
Cited for: VARIANTS SPG4 THR-97; ASP-201; SER-314; VAL-360; ALA-464; GLY-498 AND ILE-550;
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.