IthaID: 1349


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 2 CAT>CGT HGVS Name: HBD:c.8A>G
Hb Name: Hb A2-Sphakiá Protein Info: δ 2(NA2) His>Arg

Context nucleotide sequence:
CAACCTCAAACAGACACCATGGTGC [A/G/T] TCTGACTCCTGAGGAGAAGACTGCT (Strand: -)

Protein sequence:
MVRLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

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: 63190
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: Mediterranean
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Publications / Origin

  1. Jones RT, Brimhall B, Huehns ER, Barnicot NA, Hemoglobin Sphakiá: a delta-chain variant of hemoglobin A2 from Crete., Science (New York, N.Y.), 151(716), 1406-8, 1966
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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