IthaID: 1353


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 11 GTC>GGC HGVS Name: HBD:c.35T>G
Hb Name: Hb A2-Pylos Protein Info: δ 11(A8) Val>Gly

Context nucleotide sequence:
CTGACTCCTGAGGAGAAGACTGCTG [G/T] CAATGCCCTGTGGGGCAAAGTGAAC (Strand: -)

Protein sequence:
MVHLTPEEKTAGNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH

Also known as:

External Links

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: 63217
Size: 1 bp
Located at: δ
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Greek
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Publications / Origin

  1. Drakoulakou O, Papapanagiotou E, Loutradi-Anagnostou A, Papadakis M, delta-Thalassemic phenotype due to two "novel" delta-globin gene mutations: CD11[GTC-->GGC (A8)-HbA2-Pylos] and CD 85[TTT-->TCT(F1)-HbA2-Etolia]., Human mutation, 9(4), 344-7, 1997
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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