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:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

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: 49190
Size: 1 bp
Located at:
Specific Location: Exon 3

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

In silico pathogenicity prediction

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)

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