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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q99519: Variant p.Ala279Thr

Sialidase-1
Gene: NEU1
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Variant information Variant position: help 279
Type of variant: help LB/B
Residue change: help From Alanine (A) to Threonine (T) at position 279 (A279T, p.Ala279Thr).
Physico-chemical properties: help Change from small size and hydrophobic (A) to medium size and polar (T)
BLOSUM score: help 0
Other resources: help


Sequence information Variant position: help 279
Protein sequence length: help 415
Location on the sequence: help DFNPDECQPYELPDGSVVIN A RNQNNYHCHCRIVLRSYDAC
Residue conservation: help 
Human                         DFNPDECQPYELPDGSVVINARNQNNYHCHCRIVLRSYDAC

Mouse                         DFNPDECQPYELPDGSVIINARNQNNYHCRCRIVLRSYDAC

Rat                           DFNPDECQPYELPDGSVIINARNQNNYHCRCRIVLRSYDAC

Pig                           DFNPDECQPYELPDGSVVINARNQNNYHCRCRIVLRSYDAC

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



Literature citations
In silico identification of new putative pathogenic variants in the NEU1 sialidase gene affecting enzyme function and subcellular localization.
Bonardi D.; Ravasio V.; Borsani G.; d'Azzo A.; Bresciani R.; Monti E.; Giacopuzzi E.;
PLoS ONE 9:E104229-E104229(2014)
Cited for: VARIANTS SIALIDOSIS MET-217; ARG-243 AND SER-294; VARIANTS ALA-88; PHE-90; ALA-179; GLN-208; ALA-210; ALA-217; MET-222; ASN-234; SER-248; SER-252; THR-279; ARG-351 AND GLN-357; CHARACTERIZATION OF VARIANTS ALA-88; PHE-90; ALA-210; ALA-217; MET-222 AND ASN-234; FUNCTION; SUBCELLULAR LOCATION;
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.