IthaID: 3315

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	N/A
Common Name:	CD 56 GGC>GAC [Gly>Asp]	HGVS Name:	HBD:c.170G>A
Hb Name:	Hb A2-Shah Alam	Protein Info:	N/A

Protein sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMDNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH

Also known as:

Comments: HBD:c.170G>A substitutes glycine with aspartic (missense). The index was identified with heterozygous β+ IVS 1-5 (G>C) inherited from the father. His HbA2 and HbF was 2.5% and 3.0%, respectively. The HBD was inherited from the mother. His mother’s HbA2 was 1.4%. CE showed additional fraction at Zone 6 (mother 1.0%, child 1.2%). Possible HBA and HBB variants were ruled out by sequencing.

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:	63480
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:	Malaysian 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To the best of our knowledge, this is unpublished data.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	2018-02-14	First report.

Created on 2018-02-14 17:22:43, Last reviewed on 2018-02-14 17:37:04 (Show full history)

A/A	Date	Curator(s)	Comments
1	2018-02-14 17:22:43	The IthaGenes Curation Team	Created
2	2018-02-14 17:37:04	The IthaGenes Curation Team	Reviewed. Mutation comment added.

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