IthaID: 3712



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 140 TAC>TCC [Tyr>Ser] HGVS Name: HBA2:c.422A>C
Hb Name: Hb Angers Protein Info: α2 140(HC2) Tyr>Ser

Context nucleotide sequence:
TGTGAGCACCGTGCTGACCTCCAAAT [A/C] CCGTTAAGCTGGAGCCTCGGTAGCCG (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKSR

Also known as:

Comments: Found in a 75-year old man and his son presented with increased oxygen affinity and erythrocytosis. Both had low P50 value. The 32-year old son was compound heterozygous for the novel mutation and the 5’UTR mutation in the α2 gene HBA2:c.-24C>G [IthaID: 2481].

External Links

Phenotype

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

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34456
Size: 1 bp
Located at: α2
Specific Location: Exon 3

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

Sequence Viewer

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Publications / Origin

  1. Orvain C, Kiger L, Peronet I, Peron A, Galacteros F, Wajcman H, Pissard S, Hb Angers: A new α2-globin variant [α2 (140)(HC2) Tyr → Ser; HBA2: C.422 A>C] with increased oxygen affinity leading to erythrocytosis., Int J Lab Hematol, 2020 PubMed
Created on 2021-01-15 11:41:17, Last reviewed on 2021-06-16 12:08:42 (Show full history)

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