IthaID: 2293
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 326 (GAG>AAG) | HGVS Name: | NG_013087.1:g.7207G>T |
Context nucleotide sequence:
TGGAGATTCGCGCGCTCGGACGAGC [G/T] GACCCGCCACTACCGGAAACACACG (Strand: -)
Also known as:
Comments: Protein Change: L326R. Cause bordeline HbA2
Phenotype
| Allele Phenotype (Cis): | N/A |
|---|---|
| Allele Phenotype (Trans): | Increased expression for δ |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 19 |
|---|---|
| Locus: | NG_013087.1 |
| Locus Location: | 7207 |
| Size: | 1 bp |
| Located at: | KLF1 |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Nonsense codon (Translation) |
| Ethnic Origin: | Sardinians |
| Molecular mechanism: | N/A |
| Inheritance: | Quantitative trait |
| DNA Sequence Determined: | Yes |
Publications / Origin
- Perseu L, Satta S, Moi P, Demartis FR, Manunza L, Sollaino MC, Barella S, Cao A, Galanello R, KLF1 gene mutations cause borderline HbA(2)., Blood , 118(16), 4454-8, 2011
Created on 2013-12-20 11:33:54,
Last reviewed on 2014-03-20 10:58:39 (Show full history)
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