IthaID: 3916


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 15 GGT>TGT [Gly>Cys] HGVS Name: HBA2:c.46G>T
Hb Name: Hb Orbassano Protein Info: α2 15(A13) Gly>Cys

Context nucleotide sequence:
CAAGACCAACGTCAAGGCCGCCTGG [G/T] GTAAGGTCGGCGCGCACGCTGGCGA (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWCKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

Comments: Found in a healthy heterozygous patient presented with Hb 12.6 g/dL, MCV 83 fL, MCH 31.5 pg and RBC 4.8 10^12/L. Capillary electrophoresis shown that the HbX variant migrated in zone 13 with HbX level 13.1% and HbA2 2.5%. No separation of HbX and HbA found with HPLC analysis.

External Links

No available links

Phenotype

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

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 33821
Size: 1 bp
Located at: α2
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Caucasian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Publications / Origin

To the best of our knowledge, this is unpublished data. Please use with caution!

Microattributions

A/AContributor(s)DateComments
1Mandrile, Giorgia2022-04-07First report.
2Nicolò , Cinzia 2022-04-07First report. HPLC and capillary electrophoresis analyses
3Curcio , Cristina 2022-04-07First report. Molecular analysis
Created on 2022-04-15 11:40:01, Last reviewed on (Show full history)

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