IthaID: 483


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 22 GGC>GAC [Gly>Asp] HGVS Name: HBA1:c.68G>A | HBA2:c.68G>A
Hb Name: Hb J-Medellin Protein Info: α2 or α1 22(B3) Gly>Asp

Context nucleotide sequence:
TGGGGTAAGGTCGGCGCGCACGCTG [A/G] CGAGTATGGTGCGGAGGCCCTGGAG (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHADEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

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: 33843 or 37647
Size: 1 bp or 1 bp
Located at: α1 or α2
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Colombian
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To the best of our knowledge, this is unpublished data.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 16:13:15, Last reviewed on 2014-03-13 09:29:31 (Show full history)

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