IthaID: 3795

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 35 TAC>GAC [Tyr>Asp] HGVS Name: HBB:c.106T>G
Hb Name: Hb Oristano Protein Info: β35(C1) Tyr>Asp

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: Presented in a heterozygote state with numerous induced by oxidant dyes Heinz bodies, Hb 12.6 g/dL, MCV 90.7 fL, Reticulocytes 3.7 %, HbA2 3.5 %, HbF 0.8 % and an abnormal peak of HbX 30 %.

External Links


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70830
Size: 1 bp
Located at: β
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: N/A
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To the best of our knowledge, this is unpublished data.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!

Created on 2021-06-07 12:39:43, Last reviewed on (Show full history)

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