IthaID: 3217



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 31 AGG>TGG [Arg>Trp] HGVS Name: HBA2:c.94A>T
Hb Name: Hb Debao Protein Info: α2 31(B12) Arg>Trp

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALEWMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Comments: Mutation in the B-helix of the α2-globin chain, located in the conserved motif of the first exon-intron junction. It produces a mild phenotype in association with an α+ thalassemia deletion and a severe form of Hb H (β4) disease in combination with an α0 thalassemia deletion.

External Links

No available links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 33869
Size: 1 bp
Located at: α2
Specific Location: Exon 1

Phenotype

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Cryptic splice site (mRNA Processing), Missense codons (Protein Structure)
Ethnic Origin: Chinese
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

To the best of our knowledge, this is unpublished data. Please use with caution!

Created on 2017-05-08 11:51:28, Last reviewed on (Show full history)

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