IthaID: 470



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 16 AAG>AAC or AAT [Lys>Asn] HGVS Name: HBA1:c.51G>C | HBA1:c.51G>T | HBA2:c.51G>C | HBA2:c.51G>T
Hb Name: Hb Beijing Protein Info: α2 or α1 16(A14) Lys>Asn

Context nucleotide sequence:
CATACTCGCCAGCGTGCGCGCCGAC [A/C/G] TTACCCCAGGCGGCCTTGACGTTGG (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGNVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 33826 or 37630
Size: 1 bp or 1 bp
Located at: α1 or α2
Specific Location: Exon 1

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Chinese
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Liang CC, Chen S, Yang K, Jia P, Ma Y, Li T, Ni X, Wang X, Deng Q, Yao S, Hemoglobin Beijing [alpha 16 (A14) Lys replaced by Asn]: a new fast-moving hemoglobin variant., Hemoglobin , 6(6), 629-33, 1982 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2014-03-12 17:21:25 (Show full history)

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