IthaID: 1387



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 121 GAA>GTA HGVS Name: HBD:c.365A>T
Hb Name: Hb A2-Manzanares Protein Info: δ 121(GH4) Glu>Val

Context nucleotide sequence:
GTGCTGGCCCGCAACTTTGGCAAGG [A/T] ATTCACCCCACAAATGCAGGCTGCC (Strand: -)

Protein sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKVFTPQMQAAYQKVVAGVANALAHKYH

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 64573
Size: 1 bp
Located at: δ
Specific Location: Exon 3

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: δ-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: N/A
Ethnic Origin: Spanish
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Romero Garcia C, Navarro JL, Lam H, Webber BB, Headlee MG, Wilson JB, Huisman TH, Hb A2-Manzanares or alpha 2 delta 2 121 (GH4) Glu replaced by Val, an unstable delta chain variant observed in a Spanish family., Hemoglobin, 7(5), 435-42, 1983 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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