IthaID: 2719
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs1867380 | HGVS Name: | NG_011975.1:g.50874A>G |
Context nucleotide sequence:
TCCAGAGCCTGACTCAGTCTTTAAG [A/G] CAGAACAATCTGAGGACAAACCAGA (Strand: +)
Protein sequence:
MQPEGAEKGKSFKQRLVLKSSLAKETLSEFLGTFILIVLGCGCVAQAILSRGRFGGVITINVGFSMAVAMAIYVAGGVSGGHINPAVSLAMCLFGRMKWFKLPFYVGAQFLGAFVGAATVFGIYYDGLMSFAGGKLLIVGENATAHIFATYPAPYLSLANAFADQVVATMILLIIVFAIFDSRNLGAPRGLEPIAIGLLIIVIASSLGLNSGCAMNPARDLSPRLFTALAGWGFEVFRAGNNFWWIPVVGPLVGAVIGGLIYVLVIEIHHPEPDSVFKAEQSEDKPEKYELSVIM
Also known as:
Comments: SNP associated with HbF levels in the older subjects (≥24 years; n=538) of the Cooperative Study of Sickle Cell Disease (CSSCD). The association was replicated in an independent study, which enrolled sickle cell adult patients (n=211) from the Multicenter Study of Hydroxyurea in Sickle Cell Anemia (MSH). Also, AA was associated with an average increase of 6% in HbF compared with GG in response to hydroxyurea treatment in a cohort of SCA patients [http://doi.org/10.1182/blood.V104.11.108.108].
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Allele Phenotype (Cis): | N/A |
|---|---|
| Allele Phenotype (Trans): | N/A |
| Associated Phenotypes: | Hb F levels [HP:0011904] [OMIM:141749] |
Location
| Chromosome: | 15 |
|---|---|
| Locus: | NG_011975.2 |
| Locus Location: | 50874 |
| Size: | 1 bp |
| Located at: | AQP9 |
| Specific Location: | Exon 6 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | African American |
| Molecular mechanism: | N/A |
| Inheritance: | Quantitative trait |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Sebastiani P, Wang L, Nolan VG, Melista E, Ma Q, Baldwin CT, Steinberg MH, Fetal hemoglobin in sickle cell anemia: Bayesian modeling of genetic associations., Am. J. Hematol. , 83(3), 189-95, 2008