IthaID: 525


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 41 ACC>TCC or AGC [Thr>Ser] HGVS Name: HBA1:c.124A>T | HBA1:c.125C>G | HBA2:c.124A>T | HBA2:c.125C>G
Hb Name: Hb Miyano Protein Info: α2 or α1 41(C6) Thr>Ser

Context nucleotide sequence:
GCTCAGGTCGAAGTGCGGGAAGTAG [C/G] TCTTGGTGGTGGGGAAGGACAGGAA (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKSYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

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: 34016 or 37820
Size: 1 bp or 1 bp
Located at: α1 or α2
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Japanese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Publications / Origin

  1. Ohba Y, Imai K, Uenaka R, Ami M, Fujisawa K, Itoh K, Hirakawa K, Miyaji T, Hb Miyano or alpha 41(C6)Thr----Ser: a new high oxygen affinity alpha chain variant found in an erythremic blood donor., Hemoglobin , 13(7), 637-47, 1989
Created on 2010-06-16 16:13:15, Last reviewed on 2014-03-18 15:24:27 (Show full history)

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