Variant position: 196 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 558 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 YNLSQNVQEDDLQHLQLFTE YGRLAMEETFLKPFQSLIFLV
Mouse YNLSQNVQEDDLQHLQLFTE YGRLAMEETFLKPFQSLIFLV
Rat YNLSQNVQEDDLQHLQLFTE YGRLAMEETFLKPFQSLIFLV
Bovine YNLSQNVQEDDLQHLQLFTE YGRLAMEETFLKPFQSLIFLV
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.
Structural basis for the nucleotide-dependent dimerization of the large G protein atlastin-1/SPG3A.
Byrnes L.J.; Sondermann H.;
Proc. Natl. Acad. Sci. U.S.A. 108:2216-2221(2011)
Cited for: X-RAY CRYSTALLOGRAPHY (2.70 ANGSTROMS) OF 1-447 IN COMPLEX WITH GDP; FUNCTION; CHARACTERIZATION OF VARIANT CYS-196; CHARACTERIZATION OF VARIANT SPAG3 GLN-217; MUTAGENESIS OF ARG-77; GLN-191 AND HIS-247; SUBUNIT;
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: VARIANT CYS-196; VARIANTS SPG3 CYS-239; ILE-253 AND TRP-495;
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