IthaID: 3315



Names and Sequences

Functionality: Globin gene causative mutation
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

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.

External Links

No available links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 63480
Size: 1 bp
Located at: δ
Specific Location: Exon 2

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Malaysian Malay
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

To the best of our knowledge, this is unpublished data.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

Microattributions

A/AContributor(s)DateComments
1Syahzuwan, Hassan2018-02-14First report.
Created on 2018-02-14 17:22:43, Last reviewed on 2018-02-14 17:37:04 (Show full history)

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