IthaID: 4012

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	N/A
Common Name:	CD 123 ACC>GCC [Thr>Ala]	HGVS Name:	HBD:c.370A>G
Hb Name:	Hb A2-Kuching	Protein Info:	N/A

Context nucleotide sequence:
CCGCAACTTTGGCAAGGAATTC [A>G] CCCCACAAATGCAGGCTGCCTA (Strand: -)

Protein sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFAPQMQAAYQKVVAGVANALAHKYH

Also known as:

Comments: The mutation changes threonine to alanine. It was found on three individuals. The 1st patient had HbA2 of 2% and was negative for the common alpha thalassemia (gap and arms panels). The 2nd patient had HbA2 of 1.7% with alpha 3.7kb deletion. The 3rd patient had HbA2 of 1.4%, however alpha thalassemia was not investigated. No HbA2’ in all patients.

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:	64578
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:	Malay
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To the best of our knowledge, this is unpublished data.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	Syahzuwan, Hassan	2023-01-25	First report.

Created on 2023-01-27 12:18:23, Last reviewed on 2023-03-13 15:12:12 (Show full history)

A/A	Date	Curator(s)	Comments
1	2023-01-27 12:18:23	The IthaGenes Curation Team	Created
2	2023-03-13 15:12:12	The IthaGenes Curation Team	Reviewed. Allele strand info corrected

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