Variant position: 253 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 AKFLEKRLKVSGNQHEELQN VRKHIHSCFTNISCFLLPHPG
Mouse AKFLEKRLKVSGNQHEELQN VRKHIHSCFTNISCFLLPHPG
Rat AKFLEKRLKVSGNQHEELQN VRKHIHSCFTNISCFLLPHPG
Bovine SKFLEKRLKVSGNQHEELQN VRKHIHSCFTKISCFLLPHPG
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
247 – 247 H -> R. Impairs homodimerization and GTPase activity.
248 – 260
Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia.
Alvarez V.; Sanchez-Ferrero E.; Beetz C.; Diaz M.; Alonso B.; Corao A.I.; Gamez J.; Esteban J.; Gonzalo J.F.; Pascual-Pascual S.I.; Lopez de Munain A.; Moris G.; Ribacoba R.; Marquez C.; Rosell J.; Marin R.; Garcia-Barcina M.J.; Del Castillo E.; Benito C.; Coto E.;
BMC Neurol. 10:89-89(2010)
Cited for: VARIANTS SPG3 GLU-154; CYS-239; ILE-253; VAL-413; TRP-415; THR-440 AND TRP-495;
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;
Application of whole exome sequencing in undiagnosed inherited polyneuropathies.
Klein C.J.; Middha S.; Duan X.; Wu Y.; Litchy W.J.; Gu W.; Dyck P.J.; Gavrilova R.H.; Smith D.I.; Kocher J.P.; Dyck P.J.;
J. Neurol. Neurosurg. Psych. 85:1265-1272(2014)
Cited for: VARIANT SPG3 ILE-253;
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