IthaID: 3794


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 3 (CTG>AAG) [Leu>Lys] HGVS Name: HBB:c.10_11delinsAA
Hb Name: Hb Jiangnan Protein Info: N/A

Context nucleotide sequence:
CAAACAGACACCATGGTGCAT [CTG/AAG] ACTCCTGAGGAGAAGTCTGCC (Strand: -)

Protein sequence:
MVHΚTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

Comments: Found in a 19-year-old male presented with Hb 13.9 g/dL, MCV 87.4 fL and MCH 28.7 pg. Capillary electrophoresis shown HbA 64.5 %, HbF+HbX 31. 8% and HbA2 3.7 %.

External Links

No available links

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70604
Size: 2 bp
Located at:
Specific Location: N/A

Other details

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

Publications / Origin

To the best of our knowledge, this is unpublished data.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

Microattributions

A/AContributor(s)DateComments
1Li, Youqiong2021-06-03First report.
Created on 2021-06-07 12:11:01, Last reviewed on 2021-06-10 12:13:19 (Show full history)

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