IthaID: 1382


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 99 GAT>AAT HGVS Name: HBD:c.298G>A
Hb Name: Hb A2-Canada Protein Info: δ 99(G1) Asp>Asn

Context nucleotide sequence:
GCTGCACTGTGACAAGCTGCACGTG [A/G] ATCCTGAGAACTTCAGGGTGAGTCC (Strand: -)

Protein sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVNPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH

Also known as:

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 63608
Size: 1 bp
Located at: δ
Specific Location: Exon 2

Other details

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

Publications / Origin

  1. Salkie ML, Gordon PA, Rigal WM, Lam H, Wilson JB, Headlee ME, Huisman TH, Hb A2-Canada or alpha 2 delta 2 99(G1) Asp replaced by Asn, a newly discovered delta chain variant with increased oxygen affinity occurring in cis to beta-thalassemia., Hemoglobin, 6(3), 223-31, 1982
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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