Variant position: 300 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 533 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 TIATKTFLRYDRLRALITSI RRFYPTVTVVIADDSDKPERV
Mouse TIATKTFLRYDRLRTLIASI RRFYPTVTIVIADDSDKPERI
Rat TVATKTFLRYDRLRALIASI RRFYPTVTIVIADDSDKPERI
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 – 533 Beta-1,4 N-acetylgalactosaminyltransferase 1
26 – 533 Lumenal
238 – 328 VRFSTEGHEAAFTIRIRHPPNPRLYPPGSLPQGAQYNISALVTIATKTFLRYDRLRALITSIRRFYPTVTVVIADDSDKPERVSGPYVEHY -> GARPGWRDGQAGQTEKNQKGWSGQMAEGMGGIWAMARAVQPHNGCFNWTSRARGRKGAFVHLGLEQARGKPEPWVCLPFRPTVGGPRKRLV. In isoform 3.
Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia.
Boukhris A.; Schule R.; Loureiro J.L.; Lourenco C.M.; Mundwiller E.; Gonzalez M.A.; Charles P.; Gauthier J.; Rekik I.; Acosta Lebrigio R.F.; Gaussen M.; Speziani F.; Ferbert A.; Feki I.; Caballero-Oteyza A.; Dionne-Laporte A.; Amri M.; Noreau A.; Forlani S.; Cruz V.T.; Mochel F.; Coutinho P.; Dion P.; Mhiri C.; Schols L.; Pouget J.; Darios F.; Rouleau G.A.; Marques W. Jr.; Brice A.; Durr A.; Zuchner S.; Stevanin G.;
Am. J. Hum. Genet. 93:118-123(2013)
Cited for: VARIANTS SPG26 CYS-300 AND ALA-433;
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