Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q14376: Variant p.Arg239Trp

UDP-glucose 4-epimerase
Gene: GALE
Feedback?
Variant information Variant position: help 239
Type of variant: help LP/P [Disclaimer]
Residue change: help From Arginine (R) to Tryptophan (W) at position 239 (R239W, p.Arg239Trp).
Physico-chemical properties: help Change from large size and basic (R) to large size and aromatic (W)
BLOSUM score: help -3
Variant description: help In GALAC3.
Other resources: help


Sequence information Variant position: help 239
Protein sequence length: help 348
Location on the sequence: help RREALNVFGNDYDTEDGTGV R DYIHVVDLAKGHIAALRKLK
Residue conservation: help 
Human                         RREALNVFGNDYDTEDGTGVRDYIHVVDLAKGHIAALRKLK

Mouse                         RREALNVFGDDYATEDGTGVRDYIHVVDLAKGHIAALKKLK

Rat                           RREALNVFGDDYATEDGTGVRDYIHVVDLAKGHIAALKKLK

Bovine                        RREVLNVFGNDYDTEDGTGVRDYIHVVDLAKGHIAALRKLK

Caenorhabditis elegans        KLPVLTIYGDQFDTVDGTGVRDYIHVVDLAKGHVKAFDRIK

Drosophila                    RRPSLSVYGSDFPTHDGTGVRDYIHIVDLAEGHVKALDKLR

Slime mold                    KRPILSIFGNDYNTPDGTGVRDFIHVVDLAKGHISALSSLH
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 348 UDP-glucose 4-epimerase
Binding site 239 – 239



Literature citations
The molecular basis of UDP-galactose-4-epimerase (GALE) deficiency galactosemia in Korean patients.
Park H.-D.; Park K.U.; Kim J.Q.; Shin C.H.; Yang S.W.; Lee D.H.; Song Y.-H.; Song J.;
Genet. Med. 7:646-649(2005)
Cited for: VARIANTS GALAC3 VAL-25; CYS-40; GLU-69; LYS-165; TRP-169; TRP-239; ASP-302 AND HIS-335;
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.