IthaID: 3547


Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 89 AGT>AAT [Ser>Asn] HGVS Name: HBD:c.269G>A
Hb Name: Hb A2-Pistoia Protein Info: δ 89(F5) Ser>Asn

Context nucleotide sequence:
TCAAGGGCACTTTTTCTCAGCTGA [G>A] TGAGCTGCACTGTGACAAGCTGC (Strand: -)

Protein sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLNELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH

Also known as:

Comments: Heterozygote phenotype. RBC indices: Normochromic normocytic RBC. Capillary electrophoresis: Hb A2 1.1 %. Hb X 0.6 % of total Hb. HbX is separated from HbA2 on the Capillarys 3 Tera system.

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 63579
Size: 1 bp
Located at: δ
Specific Location: Exon 2

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: δ-chain variant
Allele Phenotype:N/A
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: Italian
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To the best of our knowledge, this is unpublished data.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
1Coviello, Domenico2019-12-12First report.
2Mogni, Massimo2019-12-12First report.
Created on 2019-12-16 16:28:41, Last reviewed on 2019-12-20 10:41:43 (Show full history)

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