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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O14832: Variant p.Glu197Gln

Phytanoyl-CoA dioxygenase, peroxisomal
Gene: PHYH
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Variant information Variant position: help 197
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glutamate (E) to Glutamine (Q) at position 197 (E197Q, p.Glu197Gln).
Physico-chemical properties: help Change from medium size and acidic (E) to medium size and polar (Q)
BLOSUM score: help 2
Variant description: help In RD.


Sequence information Variant position: help 197
Protein sequence length: help 338
Location on the sequence: help DLHYFPFRPSDLIVCAWTAM E HISRNNGCLVVLPGTHKGSL
Residue conservation: help 
Human                         DLHYFPFRPSDLIVC------AWTAMEHISRNNGCLVVLPGTH-KGSL

Mouse                         DLHYFPFRPSNLIVC------AWTAMEHIDRNNGCLVVLPG

Rat                           DLHFFPFRPSNLIVC------AWTAMEHIDRNNGCLVVLPG

Bovine                        DLHYFPFRPSNSIVC------AWTAMEHIDRNNGCLVVLPG

Caenorhabditis elegans        DLQYFPFRPADFICC------AWTAMEKITRANGCLVVVPG

Slime mold                    DMNPYNWMGNGDICREELSKLTYARLGEFIVENNQPTQNDG
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 31 – 338 Phytanoyl-CoA dioxygenase, peroxisomal
Binding site 177 – 177
Binding site 193 – 193
Beta strand 189 – 197



Literature citations
Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's disease.
Jansen G.A.; Hogenhout E.M.; Ferdinandusse S.; Waterham H.R.; Ofman R.; Jakobs C.; Skjeldal O.H.; Wanders R.J.A.;
Hum. Mol. Genet. 9:1195-1200(2000)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS RD SER-173; LYS-176; GLY-177; ALA-192 INS; ARG-193; GLN-197; PHE-199; SER-204; TYR-220; SER-257; HIS-269; GLN-275 AND TRP-275; VARIANTS SER-29 AND GLN-245; CHARACTERIZATION OF VARIANTS RD GLY-177; SER-204; GLN-275 AND TRP-275; CATALYTIC ACTIVITY;
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.