IthaID: 3970


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 117 TTC>TTG [Phe>Leu] HGVS Name: HBA2:c.354C>G
Hb Name: Hb Jendouba Protein Info: α2 117(GH5) Phe>Leu

Context nucleotide sequence:
GGCCGCCCACCTCCCCGCCGAGTT [C/G] ACCCCTGCGGTGCACGCCTCCCTG (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAELTPAVHASLDKFLASVSTVLTSKYR

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34388
Size: 1 bp
Located at: α2
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Tunisian
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To the best of our knowledge, this is unpublished data.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 2022-09-07 15:14:08, Last reviewed on (Show full history)

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