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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q96NR8: Variant p.Ala47Thr

Retinol dehydrogenase 12
Gene: RDH12
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Variant information Variant position: help 47
Type of variant: help LB/B
Residue change: help From Alanine (A) to Threonine (T) at position 47 (A47T, p.Ala47Thr).
Physico-chemical properties: help Change from small size and hydrophobic (A) to medium size and polar (T)
BLOSUM score: help 0
Variant description: help In retinal dystrophy; exhibits a profound loss of catalytic activity.
Other resources: help


Sequence information Variant position: help 47
Protein sequence length: help 316
Location on the sequence: help AGGVCRTNVQLPGKVVVITG A NTGIGKETARELASRGARVY
Residue conservation: help 
Human                         AGGVCRTNVQLPGKVVVITGANTGIGKETARELASRGARVY

Mouse                         AGGVCTTNVQIPGKVVVITGANTGIGKETARELARRGARVY

Bovine                        AGGVCRTDVQLFGKVVVITGANTGIGKETARELARRGARVY
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 316 Retinol dehydrogenase 12
Binding site 46 – 52



Literature citations
Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.
Thompson D.A.; Janecke A.R.; Lange J.; Feathers K.L.; Hubner C.A.; McHenry C.L.; Stockton D.W.; Rammesmayer G.; Lupski J.R.; Antinolo G.; Ayuso C.; Baiget M.; Gouras P.; Heckenlively J.R.; den Hollander A.; Jacobson S.G.; Lewis R.A.; Sieving P.A.; Wissinger B.; Yzer S.; Zrenner E.; Utermann G.; Gal A.;
Hum. Mol. Genet. 14:3865-3875(2005)
Cited for: VARIANTS RETINAL DYSTROPHY THR-47; MET-55; ILE-99; LYS-125; GLU-145; ASP-151; ILE-155; CYS-193; ASP-206; VAL-206; LEU-230; HIS-234; TRP-239; PRO-274 AND TYR-285; VARIANTS GLN-65; ASN-101; GLN-161 AND CYS-193; CHARACTERIZATION OF VARIANTS RETINAL DYSTROPHY THR-47; MET-55; ILE-99; LYS-125; GLU-145; ASP-151; ILE-155; CYS-193; ASP-206; VAL-206; LEU-230; HIS-234; TRP-239; PRO-274 AND TYR-285; CHARACTERIZATION OF VARIANT GLN-161;
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.