IthaID: 4098


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 86 CTG>CCG [Leu>Pro] HGVS Name: HBA1:c.260T>C
Hb Name: Hb Thessaloniki Protein Info: N/A

Context nucleotide sequence:
AACGCGCTGTCCGCCCTGAGCGACC [T>C] GCACGCGCACAAGCTTCGGGTGGAC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDPHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

Comments: Heterozygote with 14g/dL Hb, 42.9% HCT, 5.77x10^6/uL RBC, 24.2pg MCH, 74.2fL MCV, 14.3% RDW, 1.8% HbA2, 154ng/mL serum ferritin, and inclusion bodies (+). Mild microcytic and hypochromic erythrocyte indices. No abnormal Hb variant detected in HPLC analysis. Positive isopropanol precipitation test. The Leu>Pro replacement occurs next to the heme binding proximal histidine, probably affecting the stability of the protein.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

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

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 37956
Size: 1 bp
Located at: α1
Specific Location: Exon 2

Other details

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

In silico pathogenicity prediction

Publications / Origin

To the best of our knowledge, this is unpublished data.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

Microattributions

A/AContributor(s)DateComments
1Boutou, Effrossyni2024-05-01First report.
Created on 2024-05-08 17:05:09, Last reviewed on 2024-05-09 11:58:23 (Show full history)

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