IthaID: 2092


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 82 AAG>TAG HGVS Name: NG_000007.3:g.63557A>T
Hb Name: N/A Protein Info: δ 82(EF6) Lys>Stop

Context nucleotide sequence:
TGGCCTGGCTCACCTGGACAACCTC [A/T] AGGGCACTTTTTCTCAGCTGAGTGA (Strand: -)

Protein sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLX

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: δ-thalassaemia
Allele Phenotype:Unclear
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 63557
Size: 1 bp
Located at: δ
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Nonsense codon (Translation)
Ethnic Origin: Indonesian
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To the best of our knowledge, this is unpublished data.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 2013-06-30 19:45:36, Last reviewed on 2014-04-16 17:54:59 (Show full history)

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