IthaID: 1112

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 93 TGT>TAT HGVS Name: HBB:c.281G>A
Hb Name: Hb Fort Dodge Protein Info: β 93(F9) Cys>Tyr

Context nucleotide sequence:

Protein sequence:

External Links


Chromosome: 11
Locus: NG_000007.3
Locus Location: 71005
Size: 1 bp
Located at: β
Specific Location: Exon 2


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: N/A
Ethnic Origin: Caucasian
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Hoyer JD, McCormick DJ, Snow K, Kubik KS, Holmes MW, Dawson DB, Shaber R, Marner M, Hosmer J, Shinno N, Fairbanks VF, Four new beta chain hemoglobin variants without clinical or hematological effects: Hb San Bruno [beta39(C5)Gln-->His]; Hb Fort Dodge [beta93(F9)Cys-Tyr]; Hb Rhode Island [beta116(G18)His-->Tyr]; and Hb Inglewood [beta142(H20)Ala-->Thr]., Hemoglobin, 26(3), 299-303, 2002 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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