Variant position: 161 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 AVLLMDTQGTFDSQSTLRDS ATVFALSTMISSIQVYNLSQN
Mouse AVLLMDTQGTFDSQSTLRDS ATVFALSTMISSIQVYNLSQN
Rat AVLLMDTQGTFDSQSTLRDS ATVFALSTMISSIQVYNLSQN
Bovine AVLLMDTQGTFDSQSTLRDS ATVFALSTMISSIQVYNLSQN
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.
Type Positions Description
1 – 558 Atlastin-1
1 – 449 Cytoplasmic
64 – 309 GB1/RHD3-type G
151 – 151 F -> S. Affects endoplasmic reticulum and Golgi morphology.
162 – 162 T -> P. Affects endoplasmic reticulum and Golgi morphology.
157 – 170
Mutations in the SPG3A gene encoding the GTPase atlastin interfere with vesicle trafficking in the ER/Golgi interface and Golgi morphogenesis.
Namekawa M.; Muriel M.-P.; Janer A.; Latouche M.; Dauphin A.; Debeir T.; Martin E.; Duyckaerts C.; Prigent A.; Depienne C.; Sittler A.; Brice A.; Ruberg M.;
Mol. Cell. Neurosci. 35:1-13(2007)
Cited for: FUNCTION; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS SPG3 PRO-161; CYS-239 AND TRP-495; MUTAGENESIS OF PHE-151; THR-162 AND SER-398; INTERACTION WITH TMED2; TISSUE SPECIFICITY;
Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus.
Sauter S.M.; Engel W.; Neumann L.M.; Kunze J.; Neesen J.;
Hum. Mutat. 23:98-98(2004)
Cited for: VARIANTS SPG3 PRO-161 AND PRO-247;
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.