UniProtKB/Swiss-Prot P15538: Variant p.Arg43Gln

Cytochrome P450 11B1, mitochondrial
Gene: CYP11B1
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Variant information Variant position:

43 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 Arginine (R) to Glutamine (Q) at position 43 (R43Q, p.Arg43Gln). 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 large size and basic (R) to medium size and polar (Q) 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:

Decreases steroid 11-beta-hydroxylase activity. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs4534 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

ALGTRAARVPRTVLPFEAMP R RPGNRWLRLLQIWREQGYED 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                         ALGTRAARVPRTVLPFEAMPRRPGNRWLRLLQIWREQGYED

Rat                           ALGTTAKVAPKTLKPFEAIPQYSRNKWLKMIQILREQGQEN

Pig                           TLGTRAVLAPKGVLPFEAIPQFPGKKWMRVLQLWREQGFEN

Bovine                        LLGTRGAAAPKAVLPFEAMPRCPGNKWMRMLQIWKEQSSEN

Sheep                         PLGTRASAAPKAVLPFEAMPRCPGNKWMRVLQIWKEQGSEN

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	25 – 503	Cytochrome P450 11B1, mitochondrial

Literature citations
Cloning of cDNA and genomic DNA for human cytochrome P-45011 beta.
Kawamoto T.; Mitsuuchi Y.; Toda K.; Miyahara K.; Yokoyama Y.; Nakao K.; Hosoda K.; Yamamoto Y.; Imura H.; Shizuta Y.;
FEBS Lett. 269:345-349(1990)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); PARTIAL PROTEIN SEQUENCE; VARIANTS GLN-43 AND VAL-386; Characterization of single-nucleotide polymorphisms in coding regions of human genes.
Cargill M.; Altshuler D.; Ireland J.; Sklar P.; Ardlie K.; Patil N.; Shaw N.; Lane C.R.; Lim E.P.; Kalyanaraman N.; Nemesh J.; Ziaugra L.; Friedland L.; Rolfe A.; Warrington J.; Lipshutz R.; Daley G.Q.; Lander E.S.;
Nat. Genet. 22:231-238(1999)
Cited for: VARIANTS TYR-10; GLN-43; THR-348 AND VAL-386; Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis.
Halushka M.K.; Fan J.-B.; Bentley K.; Hsie L.; Shen N.; Weder A.; Cooper R.; Lipshutz R.; Chakravarti A.;
Nat. Genet. 22:239-247(1999)
Cited for: VARIANTS GLN-43; ILE-160 AND VAL-293; Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency.
Parajes S.; Loidi L.; Reisch N.; Dhir V.; Rose I.T.; Hampel R.; Quinkler M.; Conway G.S.; Castro-Feijoo L.; Araujo-Vilar D.; Pombo M.; Dominguez F.; Williams E.L.; Cole T.R.; Kirk J.M.; Kaminsky E.; Rumsby G.; Arlt W.; Krone N.;
J. Clin. Endocrinol. Metab. 95:779-788(2010)
Cited for: VARIANTS AH4 SER-42; SER-83; ILE-88; LEU-94; CYS-116; GLY-116; ARG-125; MET-129; HIS-133; SER-135; LEU-139; PRO-158; LEU-159; VAL-161 DEL; ASP-165; ALA-196; 254-LYS--ALA-259 DEL; ASP-267; PRO-299; VAL-306; ARG-314; ARG-318; MET-318; PRO-318; MET-319; VAL-321; VAL-331; SER-341; CYS-366; ASP-368; GLY-371; GLN-374; GLN-384; GLY-384; VAL-386; ALA-401; HIS-427; PHE-438 DEL; GLY-441; ASP-444; CYS-448; HIS-448; GLN-453 AND SER-489; VARIANT GLN-43; CHARACTERIZATION OF VARIANTS AH4 SER-42; SER-83; ILE-88; LEU-94; CYS-116; GLY-116; ARG-125; MET-129; HIS-133; SER-135; LEU-139; PRO-158; LEU-159; ASP-165; ALA-196; 254-LYS--ALA-259 DEL; PRO-299; ARG-314; MET-318; MET-319; VAL-331; CYS-366; ASP-368; GLY-371; GLN-374; GLN-384; ALA-401; PHE-438 DEL; GLY-441; CYS-448; HIS-448 AND GLN-453; CHARACTERIZATION OF VARIANT GLN-43;

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