IthaID: 3806



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 44-48 (-CTTTGGGGATC) HGVS Name: HBD:c.135_145del
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
GACCCAGAGGTTCTTTGAGTC [CTTTGGGGATC/-] TGTCCTCTCCTGATGCTGTTA (Strand: -)

Protein sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESVLSX

Also known as: p.Phe46Valfs*4

Comments: Found in association with the IVS I-110 G>A [IthaID:113] in a case presented with Hb 11.1 g/dL, RBC 5.1 x 10^12 cells/l, MCV 68.8 fL, MCH 21.8 pg, HbA2 2.2 %, HbF 0.6 % and ferritin 59 ug/l. The combination of HBB and HBD variant causes a “false normal” HbA2 level. The 11bp deletion, causing a frameshift that introduces a premature stop codon four amino acids further down the new reading frame.

External Links

No available links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: δ-thalassaemia
Allele Phenotype:δ0
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 63445
Size: 11 bp
Located at: δ
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Greek
Molecular mechanism: N/A
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To the best of our knowledge, this is unpublished data.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
1Saller, Elisabeth 2021-06-30First report.
Created on 2021-07-01 08:47:45, Last reviewed on 2021-07-09 11:32:46 (Show full history)

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