IthaID: 3750

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	N/A
Common Name:	CD 115 GCC>ACC [Ala>Thr]	HGVS Name:	HBB:c.346G>A
Hb Name:	N/A	Protein Info:	β 115(G17) Ala>Thr

Context nucleotide sequence:
GGGCAACGTGCTGGTCTGTGTGCTG [G/A] CCCATCACTTTGGCAAAGAATTCAC (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLTHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

Comments: Found in compound heterozygosity with the CD 41/42 (-CTTT) [IthaID: 147] in a 56-year old Chinese male presented with mild anaemia, microcytosis and hypochromia.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links

Phenotype

Hemoglobinopathy Group:	Thalassaemia
Hemoglobinopathy Subgroup:	β-thalassaemia
Allele Phenotype:	N/A
Associated Phenotypes:	N/A

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	11
Locus:	NG_000007.3
Locus Location:	71920
Size:	1 bp
Located at:	β
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

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To the best of our knowledge, this is unpublished data.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	2020-11-25	First report.

Created on 2021-02-25 15:35:49, Last reviewed on 2022-09-15 14:57:05 (Show full history)

A/A	Date	Curator(s)	Comments
1	2021-02-25 15:35:49	The IthaGenes Curation Team	Created
2	2022-09-15 14:57:05	The IthaGenes Curation Team	Reviewed. Comment edit.

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