IthaID: 3314


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 116 CGC>CCC [Arg>Pro] HGVS Name: HBD:c.350G>C
Hb Name: Hb A2-Bornova Protein Info: δ 116(G18) Arg>Pro

Protein sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLAPNFGKEFTPQMQAAYQKVVAGVANALAHKYH

Also known as:

Comments: Amino-acids substitutions that imply Proline residues give rise to unstable proteins most of the time. This may explain the absence of any peak for Hb A2-Bornova.

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: 64558
Size: 1 bp
Located at: δ
Specific Location: Exon 3

Other details

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

In silico pathogenicity prediction

Publications / Origin

To the best of our knowledge, this is unpublished data.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

Created on 2018-02-06 20:09:13, Last reviewed on 2018-02-14 17:25:31 (Show full history)

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