Home  |  Contact

UniProtKB/Swiss-Prot Q6NT55: Variant p.His435Tyr

Cytochrome P450 4F22
Gene: CYP4F22
Variant information

Variant position:  435
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 Histidine (H) to Tyrosine (Y) at position 435 (H435Y, p.His435Tyr).
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 (H) to large size and aromatic (Y)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  2
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 ARCI5; results in impaired synthesis of omega-hydroxyceramides.
Any additional useful information about the variant.

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

Sequence information

Variant position:  435
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  531
The length of the canonical sequence.

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.

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.

Chain 1 – 531 Cytochrome P450 4F22
Topological domain 44 – 531 Cytoplasmic

Literature citations

Essential role of the cytochrome P450 CYP4F22 in the production of acylceramide, the key lipid for skin permeability barrier formation.
Ohno Y.; Nakamichi S.; Ohkuni A.; Kamiyama N.; Naoe A.; Tsujimura H.; Yokose U.; Sugiura K.; Ishikawa J.; Akiyama M.; Kihara A.;
Proc. Natl. Acad. Sci. U.S.A. 112:7707-7712(2015)

Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3.
Lefevre C.; Bouadjar B.; Ferrand V.; Tadini G.; Megarbane A.; Lathrop M.; Prud'homme J.-F.; Fischer J.;
Hum. Mol. Genet. 15:767-776(2006)
Cited for: VARIANTS ARCI5 LEU-59; HIS-243; TRP-372; TYR-435 AND ASP-436;

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.