IthaID: 3915



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: -α3.7;CD 23 GAG>AAG HGVS Name: NG_000006.1:g.34247_38050del;33845G>A
Hb Name: Hb Chad Protein Info: N/A

Also known as:

Comments: : The missense mutation GAG>AAG [Glu>Lys] at codon 23, found in the context of a −α3.7 thalassaemia chromosome.

External Links

No available links

Phenotype

Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-thalassaemia, α-chain variant
Allele Phenotype:α0
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 33845
Size: 1 bp
Located at: α3.7 hybrid
Specific Location: N/A

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Suriname
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Codrington JF, Codrington FA, Wisse JH, Wilson JB, Webber BB, Wong SC, Huisman TH, Hb Chad or alpha 223(B4)Glu----Lys beta 2 observed in members of a Surinam family in association with alpha-thalassemia-2 and with Hb S., Hemoglobin , 13(6), 543-56, 1989 PubMed
Created on 2022-04-07 13:30:31, Last reviewed on 2022-04-07 13:32:33 (Show full history)

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