Variant position: 240 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 HGTLERDGVFCLLSDDHGAS WRYGSGVSGIPYGQPKQENDF
Mouse HGTLERDGVFCLLSDDHGAS WHYGTGVSGIPFGQPKHDHDF
Rat HGTLERDGVFCLLSDDHGAS WHYGTGVSGIPFGQPKHDHDF
Pig HGTLERDGVFCLLSDDHGAS WRYGSGISGIPYGQPKRENDF
Bovine HGTLERDGVFCLLSDDHGVS WRYGGGVSGIPYGQPKRENDF
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.
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;
Novel missense mutations in the human lysosomal sialidase gene in sialidosis patients and prediction of structural alterations of mutant enzymes.
Itoh K.; Naganawa Y.; Matsuzawa F.; Aikawa S.; Doi H.; Sasagasako N.; Yamada T.; Kira J.; Kobayashi T.; Pshezhetsky A.V.; Sakuraba H.;
J. Hum. Genet. 47:29-37(2002)
Cited for: VARIANTS SIALIDOSIS LEU-80; ARG-240 AND SER-316;
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