IthaID: 2524



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 142 GCT>CCT [Ala>Pro] HGVS Name: HBD:c.427C>A
Hb Name: N/A Protein Info: δ 142(H20) Ala>Pro

Context nucleotide sequence:
GGTGGCTGGTGTGGCTAATGCCCTG [G>C] CTCACAAGTACCATTGAGATCCTGG (Strand: -)

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available 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: 64635
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: Omani
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Alkindi S, AlZadjali S, Daar S, Ambusaidi R, Gravell D, Al Haddabi H, Krishnamoorthy R, Pathare A, First report of the spectrum of δ-globin gene mutations in Omani subjects - identification of novel mutations., Int J Lab Hematol , 2014 PubMed
Created on 2014-08-22 09:33:30, Last reviewed on (Show full history)

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