Variant position: 270 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 415 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 PYGQPKQENDFNPDECQPYE LPDGSVVINARNQNNYHCHCR
Mouse PFGQPKHDHDFNPDECQPYE LPDGSVIINARNQNNYHCRCR
Rat PFGQPKHDHDFNPDECQPYE LPDGSVIINARNQNNYHCRCR
Pig PYGQPKRENDFNPDECQPYE LPDGSVVINARNQNNYHCRCR
Bovine PYGQPKRENDFNPDECQPYE LPDGSVVINARNQNNYHCHCR
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.
Characterization of the sialidase molecular defects in sialidosis patients suggests the structural organization of the lysosomal multienzyme complex.
Lukong K.E.; Elsliger M.-A.; Chang Y.; Richard C.; Thomas G.; Carey W.; Tylki-Szymanska A.; Czartoryska B.; Buchholz T.; Rodriguez Criado G.; Palmeri S.; Pshezhetsky A.V.;
Hum. Mol. Genet. 9:1075-1085(2000)
Cited for: CHARACTERIZATION OF VARIANTS SIALIDOSIS VAL-68; GLY-182; ARG-227; TYR-260; PHE-270; VAL-298; SER-328 AND PRO-363;
Mutations in sialidosis impair sialidase binding to the lysosomal multienzyme complex.
Lukong K.E.; Landry K.; Elsliger M.-A.; Chang Y.; Lefrancois S.; Morales C.R.; Pshezhetsky A.V.;
J. Biol. Chem. 276:17286-17290(2001)
Cited for: VARIANTS SIALIDOSIS VAL-68; GLY-182; ARG-227; ARG-240; TYR-260; PHE-270; VAL-298; SER-328 AND PRO-363; CHARACTERIZATION OF VARIANTS SIALIDOSIS VAL-68; GLY-182; ARG-227; TYR-260; PHE-270; VAL-298; SER-328 AND PRO-363;
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.