IthaID: 2521


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 110-111 +GT HGVS Name: HBD:c.333_334insGT
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The frameshift results in an elongated sequence with a new stop codon (TAG) 102 amino acids further from the insertion site. This mutation could also be the result of a duplication event as the region is characterized by a nt repeat of (GTGTGTGT).

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links

Phenotype

Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: δ-thalassaemia, δ-chain variant
Allele Phenotype:δ0
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 64541
Size: 2 bp
Located at: δ
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Insertion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Oman
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Publications / Origin

  1. Hassan SM, Harteveld CL, Bakker E, Giordano PC, Known and New δ-Globin Gene Mutations and Other Factors Influencing Hb A2 Measurement in the Omani Population., Hemoglobin , 2014
Created on 2014-07-15 10:26:33, Last reviewed on 2017-01-24 12:51:16 (Show full history)

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