IthaID: 3559



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 65 AAG>GAG [Lys>Glu] HGVS Name: HBB:c.196A>G
Hb Name: Hb Guangxi Protein Info: β 65(E9) Lys>Glu

Context nucleotide sequence:
CAACCCTAAGGTGAAGGCTCATGGC [A>G] AGAAAGTGCTCGGTGCCTTTAGTGA (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGEKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

Comments: Found in a female from Guilin municipality in the Guangxi Zhuang Autonomous Region. Variant interfered with Hb A1c analysis by CapillaryS2 resulting in no Hb A1c value. It was characterized by both CE and HPLC (VARIANT II). The isopropanol test for Hb stability was negative and no inclusions were observed under the microscope.

External Links

No available links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70920
Size: 1 bp
Located at: β
Specific Location: Exon 2

Phenotype

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: Missense codons (Protein Structure)
Ethnic Origin: Chinese
Inheritance: Recessive
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Xu M, Chen WD, Wang YJ, Zhou Y, Li J, Xu AP, Ji L, Hb Guangxi [β65(E9)Lys→Glu (>AG); : c.196A>G]: A Novel β-Globin Variant., Hemoglobin, 2019 PubMed
Created on 2020-01-17 11:53:19, Last reviewed on 2020-01-17 11:55:36 (Show full history)

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