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%.

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:	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

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To the best of our knowledge, this is unpublished data.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	2021-08-17	First report.

Created on 2021-08-18 08:53:01, Last reviewed on (Show full history)

A/A	Date	Curator(s)	Comments
1	2021-08-18 08:53:01	The IthaGenes Curation Team	Created

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