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UniProtKB/Swiss-Prot O14832: Variant p.Gln176Lys

Phytanoyl-CoA dioxygenase, peroxisomal
Gene: PHYH
Variant information

Variant position:  176
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Glutamine (Q) to Lysine (K) at position 176 (Q176K, p.Gln176Lys).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from medium size and polar (Q) to large size and basic (K)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  1
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  In RD.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  176
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  338
The length of the canonical sequence.

Location on the sequence:   TMLINKPPDSGKKTSRHPLH  Q DLHYFPFRPSDLIVCAWTAM
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.

Residue conservation: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         TMLINKPPD--SGKKTSRHPLHQDLHYFPFRPSDLIVC------AWTAM

Mouse                         GMLINKPPD--VGKKTSRHPLHQDLHYFPFRPSNLIVC---

Rat                           TMLINKPPD--SGKKTSRHPLHQDLHFFPFRPSNLIVC---

Bovine                        TMLINKPPD--SGKKTSRHPLHQDLHYFPFRPSNSIVC---

Caenorhabditis elegans        TMLINKPPD--NGKLTSRHPMHQDLQYFPFRPADFICC---

Slime mold                    DRACFFRPTLVNPKWKTNDNVHLDMNPYNWMGNGDICREEL

Sequence annotation in neighborhood:  
The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
  • Type: the type of sequence feature.
  • Positions: endpoints of the sequence feature.
  • Description: contains additional information about the feature.

TypePositionsDescription
Chain 31 – 338 Phytanoyl-CoA dioxygenase, peroxisomal
Region 175 – 177 Alpha-ketoglutarate binding
Metal binding 175 – 175 Iron
Metal binding 177 – 177 Iron
Binding site 157 – 157 Alpha-ketoglutarate
Binding site 193 – 193 Alpha-ketoglutarate


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.