IthaID: 3318



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 116 CGC>CTC [Arg>Leu] HGVS Name: HBD:c.350G>T
Hb Name: Hb A2-Lepore Protein Info: δ 116(G18) Arg>Leu

Protein sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLALNFGKEFTPQMQAAYQKVVAGVANALAHKYH

Also known as: Hb A2-India

Comments: This new delta-globin variant was linked in cis with a beta(0)-thalassaemia mutation (CD 15 TGG>TAG). It was originally confused with Hb Lepore since it migrates in the same CE-CLHP window.

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 64558
Size: 1 bp
Located at: δ
Specific Location: Exon 3

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: δ-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: East Indian
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Waye JS, Patterson M, Walker L, Eng B, Nakamura LM, Lafferty JD, Yong SL, Wu JK, Chui DH, Yong SL, Beta-thalassemia in association with a new delta-chain hemoglobin variant [delta116(g18)Arg-->Leu]: implications for carrier screening and prenatal diagnosis., Am. J. Hematol. , 74(3), 179-81, 2003 PubMed
Created on 2018-02-15 16:55:04, Last reviewed on 2018-02-15 16:58:59 (Show full history)

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