IthaID: 1439


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 75 ATA>GTA HGVS Name: HBG2:c.226A>G
Hb Name: Hb F-Coigneres Protein Info: Gγ 75(E19) Ile>Val

Context nucleotide sequence:
GGTGCTGACTTCCTTGGGAGATGCC [A/G] TAAAGCACCTGGATGATCTCAAGGG (Strand: -)

Protein sequence:
MGHFTEEDKATITSLWGKVNVEDAGGETLGRLLVVYPWTQRFFDSFGNLSSASAIMGNPKVKAHGKKVLTSLGDAVKHLDDLKGTFAQLSELHCDKLHVDPENFKLLGNVLVTVLAIHFGKEFTPEVQASWQKMVTGVASALSSRYH

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: 43235
Size: 1 bp
Located at:
Specific Location: Exon 2

Other details

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

Publications / Origin

  1. Wajcman H, Yapo AP, Riou J, Promé D, Richelme-David S, Hurtrel D, Bardakdjian-Michau J, A new Ggamma chain variant: Hb F-Coignieres [gamma75(E19)Ile-->Val]., Hemoglobin, 25(4), 425-8, 2001
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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