IthaID: 2313

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 28 GCC>GTC [Ala>Val] HGVS Name: HBA1:c.86C>T
Hb Name: Hb Nedlands Protein Info: α1 28(B9) Ala>Val

Protein sequence:

Also known as:

External Links


Chromosome: 16
Locus: NG_000006.1
Locus Location: 37665
Size: 1 bp
Located at: α1
Specific Location: Exon 1


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-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: Greek
Inheritance: Recessive
DNA Sequence Determined: Yes

Publications / Origin

  1. Phylipsen M, Prior JF, Lim E, Lingam N, Finlayson J, Arkesteijn SG, Harteveld CL, Giordano PC, Two new alpha1-globin gene point mutations: Hb Nedlands (HBA1:c.86C>T) [alpha28(B9)Ala-->Val] and Hb Queens Park (HBA1:c.98T>A) [alpha32(B13)Met-->Lys]., Hemoglobin , 34(2), 123-6, 2010
Created on 2014-01-10 13:44:02, Last reviewed on 2014-05-06 11:53:49 (Show full history)

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