IthaID: 3546



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 130 TAT>-AT HGVS Name: HBD:c.391delT
Hb Name: Hb A2-Gaslini 1 Protein Info: p.Tyr131Ilefs?

Context nucleotide sequence:
AATTCACCCCACAAATGCAGGCTGCC [T/-] ATCAGAAGGTGGTGGCTGGTGTGGCT (Strand: -)

Also known as:

Comments: Single nucleotide deletion (-T) generating a frameshift with elongation of the δ-globin chain to 212 amino acids. Found in a heterozygous state. Presents with normochromic normocytic red cell morphology, HbA2 level 1.6% and HbF level 0.6%. No visible peak on HPLC, hence presumed to be unstable.

External Links

No available links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 64599
Size: 1 bp
Located at: δ
Specific Location: Exon 3

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: δ-chain variant
Allele Phenotype:N/A
Stability: Unstable
Oxygen Affinity: N/A
Associated Phenotypes: N/A

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Brazilian
Inheritance: Recessive
DNA Sequence Determined: Yes

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To the best of our knowledge, this is unpublished data.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
1Coviello, Domenico2019-12-12First report.
2Maffei, Massimo2019-12-12First report.
Created on 2019-12-16 16:26:15, Last reviewed on 2019-12-20 12:56:52 (Show full history)

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