Variant Annotations
PharmGKB variant annotations provide information about variant-drug pairs based on individual PubMed publications. Each annotation represents information from a single paper and the goal is to report the information that the author states, not an interpretation of the paper. The PMID for supporting PubMed publications is found in the "Evidence" field.
Information presented, including study size, allele frequencies and statistics is taken directly from the publication. However, if the author does not correct p-values in cases of multiple hypotheses, curators may apply a Bonferroni correction. Curators attempt to report study size based on the actual number of participants used for the calculation of the association statistics, so the number may vary slightly from what is reported in the abstract of the paper. OMB Race Category information is derived from the paper and mapped to standardized categories. Category definitions may be found by clicking on the "OMB Race Category" link.
There are 2 annotations for this variant. Register or sign in to see them.
VIP Variant in SULT1A1
Note: The SULT1A1 gene is found on the minus chromosomal strand. Please note that for standardization, the PharmGKB presents all allele base pairs on the positive chromosomal strand, therefore the alleles within our variant annotations and haplotypes may differ (in a complementary manner) from those in this VIP summary that are given on the minus strand as reported in the literature.
The second most common SULT1A1 SNP is 667A>G, where position 1 corresponds to the A of the ATG protein translation start codon. This SNP results in the amino acid substitution 223Met>Val. This variant is commonly known as SULT1A1*3. The SULT1A1*3 genotype has allele frequencies of 0.012, 0.006 and 0.229 in Caucasian, Chinese and African-American individuals, respectively [Article:11207031].
The affinity for the substrate 4-nitrophenol and the cosubstrate PAPS was increased for COS-1 expressed SULT1A1*3 relative to those expressing SULT1A1*1 [Article:10413297].
| Key Publications: | |
|---|---|
| Drugs / Other Molecules | |
| Diseases | Breast Neoplasms 14 15 16 17 Colorectal Neoplasms 18 Esophageal Neoplasms 19 Prostatic Neoplasms 20 21 |
Appendix
*2. SULT1A1: 667A>G (223 Val>Met)(rs1801030) (SULT1A1*3)*
| Genomic Variant & GenBank ID: | 19,930,564 C>T on NT_010393.15 |
|---|---|
| mRNA Variant & GenBank ID: | 777 G>A on NM_001055.2 (This reference sequence has the variant allele.) |
| Protein Variant & GenBank ID: | 223 Val>Met on NP_001046.2(This reference sequence has the variant allele.) |
| DNA Source Containing Homozygous Reference *Allele(Coriell Lines):* | PA126721774(Coriell Cell Line GM17102; Coriell DNA: NA17102) |
| DNA Source Containing *Heterozygous Reference* *Allele* (Coriell Lines): | PA126721803 (Coriell Cell Line GM17112; Coriell DNA: NA17112) |
| gp position | chr16:28524986(hg18) |
Connected Drugs
| Evidence | Drug |
|---|---|
| acetaminophen | |
| minoxidil |
Connected Drug Classes
| Evidence | Drug Class |
|---|---|
| VIP Annotation | estrogens |
Connected Diseases
Publications related to rs1801030 at chr16:28617485: 4
| Effect of hormone metabolism genotypes on steroid hormone levels and menopausal symptoms in a prospective population-based cohort of women experiencing the menopausal transition. Menopause (New York, N.Y.). 2010. Rebbeck Timothy R, et al. [Article:20505544@PubMed] | |
| Estrogen sulfation genes, hormone replacement therapy, and endometrial cancer risk. Journal of the National Cancer Institute. 2006. Rebbeck Timothy R, et al. [Article:16985250@PubMed] | |
| Sulfation pharmacogenetics: SULT1A1 and SULT1A2 allele frequencies in Caucasian, Chinese and African-American subjects. Pharmacogenetics. 2001. Carlini E J, et al. [Article:11207031@PubMed] | |
| Human phenol sulfotransferases SULT1A2 and SULT1A1: genetic polymorphisms, allozyme properties, and human liver genotype-phenotype correlations. Biochemical pharmacology. 1999. Raftogianis R B, et al. [Article:10413297@PubMed] |
Cross-References
- UCSC Golden Path:
- chr16:28617485
- dbSNP:
- rs1801030
- HapMap:
- rs1801030