IthaID: 2556

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 113 GTT>ATT [Val>Ile] HGVS Name: HBG1:c.340G>A
Hb Name: Hb F-Sykesville MD Protein Info: Aγ 113(G15) Val>Ile

Context nucleotide sequence:

Protein sequence:

Also known as:

External Links


Chromosome: 11
Locus: NG_000007.3
Locus Location: 49153
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: American
Inheritance: Recessive
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Patel N, Fixler J, Unguru Y, Kutlar A, Kutlar F, A new Aγ-globin chain variant: Hb F-Sykesville MD [Aγ113(G15)Val → Ile; HBG1: c.340G>A] detected in a Caucasian baby., Hemoglobin , 39(1), 52-4, 2015 PubMed
Created on 2015-06-16 17:16:45, Last reviewed on 2019-04-08 11:27:35 (Show full history)

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