UniProtKB/Swiss-Prot Q9NR63: Variant p.His64Arg

Cytochrome P450 26B1
Gene: CYP26B1
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Variant information Variant position:

64 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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 Arginine (R) at position 64 (H64R, p.His64Arg). 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 basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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

Sequence information Variant position:

64 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

512 The length of the canonical sequence.
Location on the sequence:

SCKLPIPKGSMGFPLIGETG H WLLQGSGFQSSRREKYGNVF 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                         SCKLPIPKGSMGFPLIGETGHWLLQGSGFQSSRREKYGNVF

Mouse                         SCKLPIPKGSMGFPLIGETGHWLLQGSGFQSSRREKYGNVF

Rat                           SCKLPIPKGSMGFPLIGETGHWLLQGSGFQSSRREKYGNVF

Bovine                        SCKLPIPKGSMGFPLIGETGHWLLQGSGFQSSRREKYGNVF

Xenopus tropicalis            SCKLPIPKGSMGFPLVGETFHWILQGSDFQSSRREKYGNVF

Zebrafish                     SCKLPMPKGSMGFPIIGETCHWFFQGAGFHASRRQKYGNVF

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.

Type	Positions	Description
Chain	1 – 512	Cytochrome P450 26B1
Alternative sequence	1 – 67	MLFEGLDLVSALATLAACLVSVTLLLAVSQQLWQLRWAATRDKSCKLPIPKGSMGFPLIGETGHWLL -> MKNKTCVLVCVSVFGGERGQVTVPRVGVRRPSLAGPLQKCTLRETRVWLP. In isoform 3.

Literature citations
Identification of tazarotenic acid as the first xenobiotic substrate of human retinoic acid hydroxylase CYP26A1 and CYP26B1.
Foti R.S.; Isoherranen N.; Zelter A.; Dickmann L.J.; Buttrick B.R.; Diaz P.; Douguet D.;
J. Pharmacol. Exp. Ther. 357:281-292(2016)
Cited for: FUNCTION; CATALYTIC ACTIVITY; BIOPHYSICOCHEMICAL PROPERTIES; VARIANT ARG-64;

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.