IthaID: 4069


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 46 GGG>AGG [Gly>Arg] HGVS Name: HBD:c.139G>A
Hb Name: Hb A2-Yulin Protein Info: N/A

Context nucleotide sequence:
GGACCCAGAGGTTCTTTGAGTCCTTT [G>A] GGGATCTGTCCTCTCCTGATGCTGTT (Strand: -)

Protein sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFRDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH

Also known as:

Comments: The HBD:c.139G>A variant was reported in a heterozygous state, along with β CD41/42 (-CTTT), in a 5-year-old Chinese girl [Hb 10.9 g/dL, RBC 5.76×1012/L, MCV 57.10 fL, MCH 18.90 pg]. Detected by Sanger sequencing. Capillary electrophoresis revealed splitting of the Hb A2 peak into two fractions (Hb A2 and Hb A2-Yulin) on the capillary 2 Flex Piercing device (Hb A 91.9% ,Hb F 4.0%, Hb A2 2.7%, Hb A2-Yulin 1.4%). The electrophoresis position of Hb A2-Yulin is located at Z1 zone.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

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: 63449
Size: 1 bp
Located at: δ
Specific Location: Exon 2

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

In silico pathogenicity prediction

Publications / Origin

  1. Lin HM, Liang L, Cai YJ, Zheng LH, Qin QP, Li YQ, A New δ-Globin Gene Variant: Hb A2-Yulin [δ46(CD5)Gly→Arg,: C.139G > A]., Hemoglobin, 2024

Microattributions

A/AContributor(s)DateComments
1Li, Youqiong2023-08-30First report.
Created on 2023-09-27 14:50:38, Last reviewed on 2024-03-11 08:53:00 (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.