IthaID: 2573



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 67 GTG>ATG [Val>Met] HGVS Name: HBD:c.202G>A
Hb Name: Hb A2-Deventer Protein Info: δ 67(E13) Val>Met

Context nucleotide sequence:
GAAGGCTCATGGCAAGAAG [G>A] TGCTAGGTGCCTTTAGTGATGGCCTGGCTCA (Strand: -)

Comments: It causes a reduced HbA2 (1.5%) in a heterozygote and is therefore considered as a δ-thalassaemic effect.

External Links

No available links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 63512
Size: 1 bp
Located at: δ
Specific Location: Exon 2

Phenotype

Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: δ-thalassaemia, δ-chain variant
Allele Phenotype:δ+
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: 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To the best of our knowledge, this is unpublished data.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 13:53:15, Last reviewed on (Show full history)

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