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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P16278: Variant p.Gln255His

Beta-galactosidase
Gene: GLB1
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Variant information Variant position: help 255
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glutamine (Q) to Histidine (H) at position 255 (Q255H, p.Gln255His).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and polar.
BLOSUM score: help 0
Variant description: help In GM1G1; 2.4% of wild-type galactosidase activity.
Other resources: help


Sequence information Variant position: help 255
Protein sequence length: help 677
Location on the sequence: help GLYTTVDFGTGSNITDAFLS Q RKCEPKGPLINSEFYTGWLD
Residue conservation: help 
Human                         GLYTTVDFGTGSNITDAFLSQRKCEPKGPLINSEFYTGWLD

                              GLYATVDFGPGANITAAFQIQRKSEPKGPLVNSEFYTGWLD

Mouse                         DLYATVDFGTGNNITQAFLVQRKFEPKGPLINSEFYTGWLD

Bovine                        GLYATVDFSPGTNLTAAFMLQRKFEPTGPLVNSEFYTGWLD

Cat                           GIYATVDFGPDANITAAFQIQRKSEPRGPLVNSEFYTGWLD
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 29 – 677 Beta-galactosidase
Active site 268 – 268 Nucleophile
Glycosylation 247 – 247 N-linked (GlcNAc...) asparagine
Helix 248 – 258



Literature citations
GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.
Hofer D.; Paul K.; Fantur K.; Beck M.; Buerger F.; Caillaud C.; Fumic K.; Ledvinova J.; Lugowska A.; Michelakakis H.; Radeva B.; Ramaswami U.; Plecko B.; Paschke E.;
Hum. Mutat. 30:1214-1221(2009)
Cited for: VARIANTS GM1G1 HIS-59; THR-132; ARG-184; ASP-190; CYS-201; HIS-201; MET-239; HIS-255; ILE-329; GLU-332; ASN-346; GLN-442 AND SER-597; VARIANTS GM1G2 GLN-68; ARG-155 AND HIS-333; VARIANTS GM1G3 MET-82; ASP-270 AND GLU-438; VARIANTS MPS4B PHE-149; TYR-198; LEU-273; ALA-397; PRO-408 AND ALA-500; CHARACTERIZATION OF VARIANTS GM1G1 THR-132; ARG-184; ASP-190; CYS-201; HIS-201; HIS-255; ILE-329; GLU-332 AND SER-597; CHARACTERIZATION OF VARIANTS GM1G2 GLN-68; ARG-155 AND HIS-333; CHARACTERIZATION OF VARIANTS GM1G3 ASP-270 AND GLU-438; CHARACTERIZATION OF VARIANTS MPS4B PHE-149; TYR-198; LEU-273; ALA-397; PRO-408 AND ALA-500; CATALYTIC ACTIVITY; FUNCTION;
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.