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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q99519: Variant p.Leu270Phe

Sialidase-1
Gene: NEU1
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Variant information Variant position: help 270
Type of variant: help LP/P [Disclaimer]
Residue change: help From Leucine (L) to Phenylalanine (F) at position 270 (L270F, p.Leu270Phe).
Physico-chemical properties: help Change from medium size and hydrophobic (L) to large size and aromatic (F)
BLOSUM score: help 0
Variant description: help In SIALIDOSIS; type 2; reduction in enzyme activity; rapid intralysosomal degradation.


Sequence information Variant position: help 270
Protein sequence length: help 415
Location on the sequence: help PYGQPKQENDFNPDECQPYE L PDGSVVINARNQNNYHCHCR
Residue conservation: help 
Human                         PYGQPKQENDFNPDECQPYELPDGSVVINARNQNNYHCHCR

Mouse                         PFGQPKHDHDFNPDECQPYELPDGSVIINARNQNNYHCRCR

Rat                           PFGQPKHDHDFNPDECQPYELPDGSVIINARNQNNYHCRCR

Pig                           PYGQPKRENDFNPDECQPYELPDGSVVINARNQNNYHCRCR

Bovine                        PYGQPKRENDFNPDECQPYELPDGSVVINARNQNNYHCHCR
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 48 – 415 Sialidase-1
Binding site 264 – 264
Binding site 280 – 280



Literature citations
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;
Disclaimer: 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.