IthaID: 2453

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 125 GAG>GCG [Glu>Ala] HGVS Name: HBG1:c.377A>C
Hb Name: Hb F-Port Royal II Protein Info: Aγ 125(H3) Glu>Ala

Also known as:

External Links


Chromosome: 11
Locus: NG_000007.3
Locus Location: 49190
Size: 1 bp
Located at:
Specific Location: Exon 3


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: African
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

Publications / Origin

  1. Kutlar F, Ameri A, Patel NH, Zhuang L, Johnson LE, Cheng ML, Kutlar A, Two new γ chain variants: Hb F-Augusta GA [(G)γ59(E3)Lys → Arg; HBG2: c.179A > G] and Hb F-Port Royal-II [(A)γ125(H3)Glu → Ala; HBG1: c.377A > C]., Hemoglobin , 38(5), 376-80, 2014
Created on 2014-06-03 12:12:11, Last reviewed on 2015-01-12 16:22:09 (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.