IthaID: 1417


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 20 GTG>GCG HGVS Name: HBG2:c.62T>C
Hb Name: Hb F-Bron Protein Info: Gγ 20(B2) Val>Ala

Context nucleotide sequence:
ACAAGCCTGTGGGGCAAGGTGAATG [C/T] GGAAGATGCTGGAGGAGAAACCCTG (Strand: -)

Protein sequence:
MGHFTEEDKATITSLWGKVNAEDAGGETLGRLLVVYPWTQRFFDSFGNLSSASAIMGNPKVKAHGKKVLTSLGDAIKHLDDLKGTFAQLSELHCDKLHVDPENFKLLGNVLVTVLAIHFGKEFTPEVQASWQKMVTGVASALSSRYH

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: 42949
Size: 1 bp
Located at:
Specific Location: Exon 1

Other details

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

Publications / Origin

  1. Lacan P, Burnichon N, Becchi M, Zanella-Cleon I, Aubry M, Couprie N, Francina A, A new G(gamma) chain variant: Hb F-Bron [gamma20(B2)val-->Ala]., Hemoglobin, 29(4), 301-5, 2005
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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