UniProtKB/Swiss-Prot P11511: Variant p.Arg264Cys

Aromatase
Gene: CYP19A1
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Variant information Variant position:

264 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 Cysteine (C) at position 264 (R264C, p.Arg264Cys). 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 (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-3 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:

1.6 fold decrease in affinity for androstenedione substrate; slightly affects PKA-mediated reduction in catalytic activity as measured in vitro by estrone synthesis from androstenedione (49% decrease compared with 36% for the wild-type protein); no effect on PKG/PRKG1-mediated reduction in catalytic activity in vitro. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs700519 [ dbSNP | Ensembl ]

Sequence information Variant position:

264 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:

YEKSVKDLKDAIEVLIAEKR R RISTEEKLEECMDFATELIL 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                         YEKSVKDLKDAIEVLIAEKRRRISTEEKLEECMDFATELIL

                              YEKSVKDLKDAMEILIEEKRHRISTAEKLEDHMDFATELIF

Mouse                         YERSVKDLKDEIAVLVEKKRHKVSTAEKLEDCMDFATDLIF

Rat                           YERSVKDLKDEIEILVEKKRQKVSSAEKLEDCMDFATDLIF

Pig                           YEKSVKDLKEDMEILIEKKRRRIFTAEKLEDCMDFATELIL

Bovine                        YEKSVKDLKDAMEILIEEKRHRISTAEKLEDSIDFATELIF

Rabbit                        YEKSVKDLKDAIDILVEKKRRRISTAEKLEDHMDFATNLIF

Goat                          YEKSVKDLKDAMEILIEEKRHRISTAEKLEDCIDFATELIF

Sheep                         YEKSVKDLKDAMEILIEEKRHRISTAEKLEDCIDFATELIF

Horse                         HQKSIKELRDAVGILAEEKRHRIFTAEKLEDHVDFATDLIL

Chicken                       YEEAAKDLKGAMEILIEQKRQKLSTVEKLDEHMDFASQLIF

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 – 503	Aromatase
Alternative sequence	219 – 503	Missing. In isoform 2.
Helix	242 – 267

Literature citations
Isolation of a full-length cDNA insert encoding human aromatase system cytochrome P-450 and its expression in nonsteroidogenic cells.
Corbin C.J.; Graham-Lorence S.; McPhaul M.; Mason J.I.; Mendelson C.R.; Simpson E.R.;
Proc. Natl. Acad. Sci. U.S.A. 85:8948-8952(1988)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT CYS-264; FUNCTION; CATALYTIC ACTIVITY; Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ARG-39; MET-201 AND CYS-264; Sequencing of cDNA inserts encoding aromatase cytochrome P-450 (P-450AROM).
Simpson E.R.; Evans C.T.; Corbin C.J.; Powell F.E.; Ledesma D.B.; Mendelson C.R.;
Mol. Cell. Endocrinol. 52:267-272(1987)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 85-503 (ISOFORM 1); VARIANT CYS-264; Arginine-cysteine polymorphism at codon 264 of the human CYP19 gene does not affect aromatase activity.
Watanabe J.; Harada N.; Suemasu K.; Higashi Y.; Gotoh O.; Kawajiri K.;
Pharmacogenetics 7:419-424(1997)
Cited for: VARIANT CYS-264; Breast cancer risk associated with polymorphism in CYP19 in Japanese women.
Miyoshi Y.; Iwao K.; Ikeda N.; Egawa C.; Noguchi S.;
Int. J. Cancer 89:325-328(2000)
Cited for: VARIANTS ARG-39 AND CYS-264; Impact of R264C and R264H polymorphisms in human aromatase function.
Baravalle R.; Di Nardo G.; Bandino A.; Barone I.; Catalano S.; Ando S.; Gilardi G.;
J. Steroid Biochem. Mol. Biol. 167:23-32(2017)
Cited for: CHARACTERIZATION OF VARIANTS CYS-264 AND HIS-264; PHOSPHORYLATION; FUNCTION; CATALYTIC ACTIVITY; BIOPHYSICOCHEMICAL PROPERTIES;

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.