IthaID: 3972


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 140 TAC>TAA [Tyr>STOP] HGVS Name: HBA1:c.423C>A
Hb Name: Hb Natal Protein Info: α1 140(HC2) Tyr>0

Context nucleotide sequence:
TGAGCACCGTGCTGACCTCCAAATA [C/A] CGTTAAGCTGGAGCCTCGGTAGCCG (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKX

Also known as:

Comments: The missense mutation creates a new premature stop codon.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links

Phenotype

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

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 38268
Size: 1 bp
Located at: α1
Specific Location: Exon 3

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Efstathiou A, Boutou E, Teli A, Drikos I, Balassopoulou A, Theodoridou S, A New Hemoglobin Variant, Hb Natal (: c.423C>A), Found in a Greek Family., Hemoglobin, 2022
Created on 2022-09-09 10:31:07, Last reviewed on 2022-09-09 10:32:05 (Show full history)

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