IthaID: 1350


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 4 ACT>AGT [Thr>Ser] HGVS Name: HBD:c.14C>G
Hb Name: Hb A2-Acacias Protein Info: δ 4(A1) Thr>Ser

Context nucleotide sequence:
CAAACAGACACCATGGTGCATCTGA [C/G/T] TCCTGAGGAGAAGACTGCTGTCAAT (Strand: -)

Protein sequence:
MVHLSPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

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: 63196
Size: 1 bp
Located at: δ
Specific Location: Exon 1

Other details

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

In silico pathogenicity prediction

Publications / Origin

To the best of our knowledge, this is unpublished data. Please use with caution!

Created on 2010-06-16 16:13:17, Last reviewed on 2014-04-16 17:07:16 (Show full history)

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