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.
A Japanese SPG4 family with a novel missense mutation of the SPG4 gene: intrafamilial variability in age at onset and clinical severity.
Namekawa M.; Takiyama Y.; Sakoe K.; Nagaki H.; Shimazaki H.; Yoshimura M.; Ikeguchi K.; Nakano I.; Nishizawa M.;
Acta Neurol. Scand. 106:387-391(2002)
Cited for: VARIANT SPG4 VAL-485;
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