IthaID: 450


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 7 AAG>GAG [Lys>Glu] HGVS Name: HBA1:c.22A>G
Hb Name: Hb Kurosaki Protein Info: α1 7(A5) Lys>Glu

Context nucleotide sequence:
CACCATGGTGCTGTCTCCTGCCGAC [A/G] AGACCAACGTCAAGGCCGCCTGGGG (Strand: +)

Protein sequence:
MVLSPADETNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

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: N/A
Associated Phenotypes: N/A

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 37601
Size: 1 bp
Located at: α1
Specific Location: Exon 1

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Harano T, Harano K, Imai K, Murakami T, Matsubara H, Hb Kurosaki [alpha 7(A5)Lys-->Glu]: a new alpha chain variant found in a Japanese woman., Hemoglobin , 19(3), 197-201, 1995
  2. Wenning MR, Kimura EM, Jorge SB, Costa FF, Sonati MF, Molecular characterization of hemoglobins Kurosaki [alpha7 Lys-->Glu], G-Pest [alpha74 Asp-->Asn], Stanleyville-II [alpha78 Asn-->Lys] and J-Rovigo [alpha53 Ala-->Asp]., Acta Haematol. , 102(4), 203-5, 1999
Created on 2010-06-16 16:13:15, Last reviewed on 2021-03-31 23:00:05 (Show full history)

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