IthaID: 4091

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	N/A
Common Name:	CD 79 GAC>AAC [Asp>Asn]	HGVS Name:	HBD:c.238G>A
Hb Name:	Hb A2-Guangxi	Protein Info:	N/A

Context nucleotide sequence:
GCCTTTAGTGATGGCCTGGCTCACCTG [G>A] ACAACCTCAAGGGCACTTTTTCTCAGCT (Strand: -)

Protein sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLNNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH

Also known as:

Comments: Found as a novel Hb variant in the heterozygous state in a 35-year-old Chinese male. No clinical presentation. Haematology: Hb 16.2 g/dL, RBC 5.16×10^12/L, MCV 91.5 fL, MCH 31.4 pg. Splitting of the Hb A2 peak into two fractions (Hb A2 and Hb A2-Guangxi) on the capillary 2 Flex Piercing device. Hb analysis: Hb A 98% , Hb F 0%, Hb A2 1.3%, Hb A2-Guangxi 0.7%. The electrophoresis position of Hb A2-Guangxi 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

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	11
Locus:	NG_000007.3
Locus Location:	63548
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

To the best of our knowledge, this is unpublished data.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

Microattributions

A/A	Contributor(s)	Date	Comments
1	Li, Youqiong	2024-01-15	First report.

Created on 2024-01-16 10:40:44, Last reviewed on (Show full history)

A/A	Date	Curator(s)	Comments
1	2024-01-16 10:40:44	The IthaGenes Curation Team	Created

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