IthaID: 1444



Names and Sequences

Functionality: Globin gene causative mutation
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: -)

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 43250
Size: 1 bp
Located at:
Specific Location: Exon 2

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Sardinian, African
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. 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 PubMed
  2. 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 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2014-04-09 09:21:59 (Show full history)

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