IthaID: 3495



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 65 AAG>AAT [Lys>Asn] HGVS Name: HBD:c.198G>T
Hb Name: Hb A2-Yunnan Protein Info: N/A

Context nucleotide sequence:
CCTAAGGTGAAGGCTCATGGCAA [G>T] AAGGTGCTAGGTGCCTTTAGTGAT (Strand: -)

Protein sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGNKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH

Also known as:

Comments: Reported as a heterozygote in one person originating from the Yunnan province during screening for Hb variants (n=41,933).

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 63508
Size: 1 bp
Located at: δ
Specific Location: Exon 2

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: Chinese
Inheritance: Recessive
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Zhang J, Li P, Yang Y, Yan Y, Zeng X, Li D, Chen H, Su J, Zhu B, Molecular epidemiology, pathogenicity, and structural analysis of haemoglobin variants in the Yunnan province population of Southwestern China., Sci Rep, 9(1), 8264, 2019 PubMed
Created on 2019-11-19 17:37:53, Last reviewed on 2019-12-03 16:25:41 (Show full history)

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