IthaID: 1444
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 80 GAT>TAT [Asp>Tyr] | HGVS Name: | HBG2:c.241G>T |
| Hb Name: | Hb F-Paulinia | Protein Info: | Gγ 80(EF4) Asp>Tyr |
Context nucleotide sequence:
GGGAGATGCCATAAAGCACCTGGAT [A/G/T] ATCTCAAGGGCACCTTTGCCCAGCT (Strand: -)
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | γ-chain variant |
| Allele Phenotype: | N/A |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 43250 |
| Size: | 1 bp |
| Located at: | Gγ |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Sardinian, African |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Duarte DF, Albuquerque DM, Pereira Pinheiro VR, Ferreira Costa F, De Fátima Sonati M, Three new structural variants of fetal hemoglobin: Hb F-Campinas [Agamma g121(GH4)Glu --> Gln], Hb F-Paulinia [Ggamma 80(EF4)Asp --> Tyr] and Hb F-Joanopolis [Ggamma73(E17) Asp -->Ala]., Haematologica, 88(11), 1316-7, 2003
- Mereu P, Multineddu C, Sannai M, Pirastru M, Manca L, Masala B, Two abnormal fetal hemoglobins found in the Sardinian population: the new Hb F-Osilo [(A)gamma119(GH2)Gly-->Ser, GGC > AGC] and Hb F-Paulinia [(G)gamma80(EF4)Asp-->Tyr, GAT > TAT] already described in the Brazilian population., Hemoglobin, 33(6), 480-5, 2009
Created on 2010-06-16 16:13:17,
Last reviewed on 2014-04-09 09:21:59 (Show full history)
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