IthaID: 676


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 94 GAC>GTC [Asp>Val] HGVS Name: HBA2:c.284A>T
Hb Name: Hb Kirksey Protein Info: α2 94(G1) Asp>Val

Context nucleotide sequence:
CTGCACGCGCACAAGCTTCGGGTGG [A/C/T] CCCGGTCAACTTCAAGGTGAGCGGC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVVPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

External Links

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: 34176
Size: 1 bp
Located at: α2
Specific Location: Exon 2

Other details

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

Publications / Origin

  1. Hitaka D, Arai J, Diagnosis and clinical presentation of hemoglobin Kirksey., Pediatr Int., 58(3), 235-7, 2016
Created on 2010-06-16 16:13:16, Last reviewed on 2020-10-05 09:21:07 (Show full history)

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