IthaID: 3843



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 120 AAG>ACG [Lys>Thr] HGVS Name: HBD:c.362A>C
Hb Name: Hb A2-Liangqing Protein Info: N/A

Context nucleotide sequence:
GTGTGCTGGCCCGCAACTTTGGCA [A>C] GGAATTCACCCCACAAATGCAGGC (Strand: -)

Protein sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGTEFTPQMQAAYQKVVAGVANALAHKYH

Also known as:

Comments: Found as a novel Hb variant in a 33-year-old Chinese male with normal hematological parameters (Hb 16. 0g/dL, RBC 5.54×10^12/L, MCV 88.6 fL, MCH 28.9pg). No clinical presentation. Detected by capillary electrophoresis at Z6 zone. Splitting of the Hb A2 peark into two fractions (Hb A2 and Hb A2-Liangqing on the capillary 2 Flex Piercing device). The results of patient are as follow: Hb A 97.4% ,Hb F 0%, Hb A2 1.5%, Hb A2-Liangqing 1.1%.

External Links

No available links

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 64570
Size: 1 bp
Located at: δ
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Chinese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

To the best of our knowledge, this is unpublished data.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

Microattributions

A/AContributor(s)DateComments
1Li, Youqiong2021-08-17First report.
Created on 2021-08-18 08:53:01, Last reviewed on (Show full history)

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