IthaID: 2454


Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 86 GCC>GTC [Ala>Val] HGVS Name: HBB:c.260C>T
Hb Name: Hb Izmir Protein Info: β 86(F2) Ala>Val

Also known as:

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70984
Size: 1 bp
Located at: β
Specific Location: Exon 2

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-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: Turkish
Inheritance: Recessive
DNA Sequence Determined: Yes

Publications / Origin

  1. Çelebiler A, Aksoy D, Ocakcı S, Karaca B, A new hemoglobin variant: Hb Izmir [β86(F2)Ala→Val, GCC>GTC; HBB:c.260C>T]., Hemoglobin , 36(5), 474-9, 2012
Created on 2014-06-03 12:19:25, Last reviewed on (Show full history)

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