IthaID: 635



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 83 CTG>CCG [Leu>Pro] HGVS Name: HBA2:c.251T>C
Hb Name: Hb Les Andelys Protein Info: α2 83(F4) Leu>Pro

Context nucleotide sequence:
GACATGCCCAACGCGCTGTCCGCCC [C/T] GAGCGACCTGCACGCGCACAAGCTT (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSAPSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Comments: Its beta chain counterpart is Hb Santa Ana [beta88(F4) Leu->Pro]

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34143
Size: 1 bp
Located at: α2
Specific Location: N/A 0

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
Stability: Unstable
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: French
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Wajcman H, Promé D, Préhu C, Déon C, Riou J, Bouanga JC, Papassotiriou I, Lahary A, Galactéros F, HB Les Andelys [alpha83(F4)LEU-->PRO]: a new moderately unstable variant., Hemoglobin , 22(2), 129-40, 1998 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2014-04-18 12:35:37 (Show full history)

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