IthaID: 2944
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs2228570 | HGVS Name: | NG_008731.1:g.30920T>C |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
GGCCTGCTTGCTGTTCTTACAGGGA [A/C/G/T] GGAGGCAATGGCGGCCAGCACTTCC (Strand: -)
Protein sequence:
TEAMAASTSLPDPGDFDRNVPRICGVCGDRATGFHFNAMTCEGCKGFFRRSMKRKALFTCPFNGDCRITKDNRRHCQACRLKRCVDIGMMKEFILTDEEVQRKREMILKRKEEEALKDSLRPKLSEEQQRIIAILLDAHHKTYDPTYSDFCQFRPPVRVNDGGGSHPSRPNSRHTPSFSGDSSSSCSDHCITSSDMMDSSSFSNLDLSEEDSDDPSVTLELSQLSMLPHLADLVSYSIQKVIGFAKMIPGFRDLTSEDQIVLLKSSAIEVIMLRSNESFTMDDMSWTCGNQDYKYRVSDVTKAGHSLELIEPLIKFQVGLKKLNLHEEEHVLLMAICIVSPDRPGVQDAALIEAIQDRLSNTLQTYIRCRHPPPGSHLLYAKMIQKLADLRSLNEEHSKQYRCLSFQPECSMKLTPLVLEVFGNEIS
Comments: SNP associated with bone mineral density in individuals with β-thalassaemia major (n=64).
External Links
Phenotype
| Allele Phenotype (Cis): | N/A |
|---|---|
| Allele Phenotype (Trans): | N/A |
| Associated Phenotypes: | Osteoporosis [HP:0000939] [OMIM:166710] |
Location
| Chromosome: | 12 |
|---|---|
| Locus: | NG_008731.1 |
| Locus Location: | 30920 |
| Size: | 1 bp |
| Located at: | VDR |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | N/A |
| Molecular mechanism: | N/A |
| Inheritance: | Quantitative trait |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Sequence Viewer
Publications / Origin
- Dimitriadou M, Christoforidis A, Fidani L, Economou M, Vlachaki E, Athanassiou-Metaxa M, Katzos G, A 2-year prospective densitometric study on the influence of Fok-I gene polymorphism in young patients with thalassaemia major., Osteoporos Int , 27(2), 781-8, 2016 PubMed