IthaID: 768



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 138 TCC>CCC [Ser>Pro] HGVS Name: HBA1:c.415T>C | HBA2:c.415T>C
Hb Name: Hb Attleboro Protein Info: α2 or α1 138(H21) Ser>Pro

Context nucleotide sequence:
GGCTTCTGTGAGCACCGTGCTGACC [C/T] CCAAATACCGTTAAGCTGGAGCCTC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTPKYR

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34449 or 38260
Size: 1 bp or 1 bp
Located at: α1 or α2
Specific Location: Exon 3

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
Stability: N/A
Oxygen Affinity: Increased Oxygen Affinity
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Other details

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

Sequence Viewer

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Publications / Origin

  1. McDonald MJ, Michalski LA, Turci SM, Guillette RA, Jue DL, Johnson MH, Moo-Penn WF, Structural, functional, and subunit assembly properties of hemoglobin Attleboro [alpha 138 (H21) Ser----Pro], a variant possessing a site maturation at a critical C-terminal residue., Biochemistry , 29(1), 173-8, 1990 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2015-01-08 16:23:59 (Show full history)

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