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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P16278: Variant p.Tyr199Cys

Beta-galactosidase
Gene: GLB1
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Variant information Variant position: help 199
Type of variant: help LP/P [Disclaimer]
Residue change: help From Tyrosine (Y) to Cysteine (C) at position 199 (Y199C, p.Tyr199Cys).
Physico-chemical properties: help Change from large size and aromatic (Y) to medium size and polar (C)
BLOSUM score: help -2
Variant description: help In GM1G1.


Sequence information Variant position: help 199
Protein sequence length: help 677
Location on the sequence: help PVITVQVENEYGSYFACDFD Y LRFLQKRFRHHLGDDVVLFT
Residue conservation: help 
Human                         PVITVQVENEYGSYFACDFDYLRFLQKRFRHHLGDDVVLFT

                              PIITMQVENEYGSYFTCDYDYLRFLQKLFHHHLGNDVLLFT

Mouse                         PIITVQVENEYGSYFACDYDYLRFLVHRFRYHLGNDVILFT

Bovine                        PIITVQVENEYGSYLSCDYDYLRFLQKRFHDHLGEDVLLFT

Cat                           PIITVQVENEYGSYFTCDYDYLRFLQRRFRDHLGGDVLLFT
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 29 – 677 Beta-galactosidase
Active site 188 – 188 Proton donor
Binding site 187 – 187
Disulfide bond 195 – 230
Alternative sequence 83 – 244 YVPWNFHEPWPGQYQFSEDHDVEYFLRLAHELGLLVILRPGPYICAEWEMGGLPAWLLEKESILLRSSDPDYLAAVDKWLGVLLPKMKPLLYQNGGPVITVQVENEYGSYFACDFDYLRFLQKRFRHHLGDDVVLFTTDGAHKTFLKCGALQGLYTTVDFGT -> LPGSCGQVVGSPSAQDEASPLSEWRASYNSA. In isoform 2.
Helix 197 – 211



Literature citations
Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among Gypsies.
Santamaria R.; Chabas A.; Coll M.J.; Miranda C.S.; Vilageliu L.; Grinberg D.;
Hum. Mutat. 27:1060-1060(2006)
Cited for: VARIANTS GM1G1 CYS-59; HIS-59; SER-136; VAL-151; PRO-173; CYS-199; ASP-272; ASN-346; CYS-347; PRO-420; ARG-422; ASN-441 AND CYS-590; VARIANT GM1G2 SER-264; VARIANTS GM1G3 HIS-201 AND LYS-420; VARIANTS MPS4B CYS-83; CYS-444; SER-494 AND ALA-500; VARIANTS PHE-436; CYS-521 AND GLY-532;
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.