IthaID: 1364



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 43 GAG>AAG HGVS Name: HBD:c.130G>A
Hb Name: Hb A2-Melbourne Protein Info: δ 43(CD2) Glu>Lys

Context nucleotide sequence:
CTACCCTTGGACCCAGAGGTTCTTT [A/G] AGTCCTTTGGGGATCTGTCCTCTCC (Strand: -)

Protein sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFKSFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 63440
Size: 1 bp
Located at: δ
Specific Location: Exon 2

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: Italian
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Sharma RS, Harding DL, Wong SC, Wilson JB, Gravely ME, Huisman TH, A new delta chain variant, haemoglobin-A2-Melbourne or alpha2 delta2 43Glu-Lys(CD2)., Biochimica et biophysica acta, 359(2), 233-5, 1974 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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