IthaID: 1447


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 97 CAT>CGT [His>Arg] HGVS Name: HBG2:c.293A>G
Hb Name: Hb F-Lyon Protein Info: Gγ 97(FG4) His>Arg

Context nucleotide sequence:
AGTGAACTGCACTGTGACAAGCTGC [A/G] TGTGGATCCTGAGAACTTCAAGGTG (Strand: -)

Protein sequence:
MGHFTEEDKATITSLWGKVNVEDAGGETLGRLLVVYPWTQRFFDSFGNLSSASAIMGNPKVKAHGKKVLTSLGDAIKHLDDLKGTFAQLSELHCDKLRVDPENFKLLGNVLVTVLAIHFGKEFTPEVQASWQKMVTGVASALSSRYH

Also known as:

External Links

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: 43302
Size: 1 bp
Located at:
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: French
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Publications / Origin

  1. Joly P, Lacan P, Garcia C, Berger C, Perier C, Barro C, Francina A, Two new G gamma chain variants: Hb F-Saint-Etienne [G gamma 79(EF3)Asp-->His] and Hb F-Lyon [G gamma 97(FG4)His-->Arg]., Hemoglobin , 32(5), 491-7, 2008
Created on 2010-06-16 16:13:17, Last reviewed on 2014-04-16 17:36:22 (Show full history)

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