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
Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

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

Protein sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFRDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH

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.

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

IthaPhen

Heterozygous records (preview in IthaPhen)

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

Sequence Viewer

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Publications / Origin

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 PubMed

Microattributions

A/A	Contributor(s)	Date	Comments
1	Li, Youqiong	2023-08-30	First report.

Created on 2023-09-27 14:50:38, Last reviewed on 2024-03-11 08:53:00 (Show full history)

A/A	Date	Curator(s)	Comments
1	2023-09-27 14:50:38	The IthaGenes Curation Team	Created
2	2023-09-27 15:04:18	The IthaGenes Curation Team	Reviewed. Location
3	2024-03-11 08:53:00	The IthaGenes Curation Team	Reviewed. Reference added

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