IthaID: 3593



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 90 GAG>GCG [Glu>Ala] HGVS Name: HBB:c.272A>C
Hb Name: Hb Shenzhen Protein Info: β 90(F6)Glu>Ala

Context nucleotide sequence:
AAGGGCACCTTTGCCACACTGAGTG [A>C] GCTGCACTGTGACAAGCTGCACGTG (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSALHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

Comments: Found in a 52-year old Chinese individual during routine health check. Negative result with isopropanol solubility test. It is located near the heme-linked proximal histidine (His92) and between two of the hydrophobic residues of the heme pocket: Leu88 and Leu91.

External Links

No available links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70996
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 AP, Li J, Chen WD, Zhou Y, Zheng RY, Ji L, A Novel β-Globin Gene Mutation: Hb Shenzhen [β90(F6)Glu→Ala, HBB: c.272A>C]., Hemoglobin, 42(3), 196-198, 2018 PubMed
Created on 2020-05-22 19:09:18, Last reviewed on (Show full history)

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