IthaID: 3320



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 16 GGC>GAC [Gly>Asp] HGVS Name: HBG1:c.50G>A
Hb Name: Hb F-Chori-I Protein Info: Aγ 16(A13) Gly>Asp

Protein sequence:
MGHFTEEDKATITSLWDKVNVEDAGGETLGRLLVVYPWTQRFFDSFGNLSSASAIMGNPKVKAHGKKVLTSLGDAIKHLDDLKGTFAQLSELHCDKLHVDPENFKLLGNVLVTVLAIHFGKEFTPEVQASWQKMVTAVASALSSRYH

Comments: The variant was discovered in a blood cord sample for stem cell transplantation. Hb F-Chori-I is the counterpart of Hb J-Baltimore (beta-globin variant with normal functions unless associated with sickle cell or b-thal mutation). It seems that this new variant wouldn't lead to functionnal abnormalities.

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 47861
Size: 1 bp
Located at:
Specific Location: Exon 1

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: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Cui J, Baysdorfer C, Azimi M, Vichinsky EP, Hoppe CC, Identification of three novel Hb F variants: Hb F-Hayward [Gγ1(NA1)Gly→Asp, GGT>GAT], Hb F-Chori-I [AγT16(A13)Gly→Asp, GGC>GAC] and Hb F-Chori-II [AγI29(B11)Gly→Glu, GGA>GAA]., Hemoglobin , 36(3), 305-9, 2012 PubMed
Created on 2018-02-15 18:29:11, Last reviewed on (Show full history)

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