IthaID: 567



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 56 AAG>AAT or AAC [Lys>Asn] HGVS Name: HBA1:c.171G>C | HBA1:c.171G>T
Hb Name: Hb Belliard Protein Info: α1 56(E5) Lys>Asn

Context nucleotide sequence:
CGTCGGCCACCTTCTTGCCGTGGCC [G/T/C] TTAACCTGGGCAGAGCCGTGGCTCA (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVNGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

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: 37867
Size: 1 bp
Located at: α1
Specific Location: Exon 2

Other details

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

Sequence Viewer

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Publications / Origin

  1. Wajcman H, Gombaud-Saintonge G, Galacteros F, Martha M, Vertongen F, Hb Belliard [alpha 56(E5)Lys----Asn] a new fast-moving alpha chain variant found in a subject of Spanish origin., Hemoglobin , 13(2), 157-62, 1989 PubMed
  2. Murthy S, Benavides R, A rare hemoglobin variant, Hb Belliard., Proc (Bayl Univ Med Cent), 30(2), 184-185, 2017 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2021-04-07 11:08:19 (Show full history)

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