IthaID: 2575



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 58 +C HGVS Name: HBD:c.176_177insC
Hb Name: N/A Protein Info: δ 58(E2) (+C) modified C-terminal sequence

Context nucleotide sequence:
CCTCTCCTGATGCTGTTATGGGCAACC [-/C] CTAAGGTGAAGGCTCATGGCAAGA (Strand: -)

Comments: Found in a male in compound heterozygote HPFH-2 and HBD:c.176_177insC, p.Lys60* (Cd58(+C)). No HbA2 detected in this case suggestive of δ-thalassaemic effect. The frameshift (+C) insertion modifies the C-terminal sequence and leads to a premature stop codon that prevents any expression of the mutated HBD allele.

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 63486
Size: 1 bp
Located at: δ
Specific Location: Exon 2

Phenotype

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

Other details

Type of Mutation: Point-Mutation(Insertion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: N/A
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To the best of our knowledge, this is unpublished data.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
1L. Harteveld, Cornelis2016-03-02First report.
Created on 2016-05-06 14:20:23, Last reviewed on 2016-08-24 13:34:34 (Show full history)

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