Variant position: 217 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 GRLAMEETFLKPFQSLIFLV RDWSFPYEFSYGADGGAKFLE
Mouse GRLAMEETFLKPFQSLIFLV RDWSFPYEFSYGADGGAKFLE
Rat GRLAMEETFLKPFQSLIFLV RDWSFPYEFSYGADGGAKFLE
Bovine GRLAMEETFLKPFQSLIFLV RDWSFPYEFSYGSDGGSKFLE
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.
Atlastin GTPases are required for Golgi apparatus and ER morphogenesis.
Rismanchi N.; Soderblom C.; Stadler J.; Zhu P.-P.; Blackstone C.;
Hum. Mol. Genet. 17:1591-1604(2008)
Cited for: FUNCTION; CHARACTERIZATION OF VARIANT SPAG3 GLN-217; MUTAGENESIS OF LYS-80; TISSUE SPECIFICITY;
Cooperation of the ER-shaping proteins atlastin, lunapark, and reticulons to generate a tubular membrane network.
Wang S.; Tukachinsky H.; Romano F.B.; Rapoport T.A.;
Cited for: FUNCTION; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANT GLN-217; MUTAGENESIS OF LYS-80;
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;
Further evidence that SPG3A gene mutations cause autosomal dominant hereditary spastic paraplegia.
Muglia M.; Magariello A.; Nicoletti G.; Patitucci A.; Gabriele A.L.; Conforti F.L.; Mazzei R.; Caracciolo M.; Ardito B.; Lastilla M.; Tedeschi G.; Quattrone A.;
Ann. Neurol. 51:794-795(2002)
Cited for: VARIANT SPG3 GLN-217;
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