IthaID: 2310


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 29 CTG>GTG [Leu>Val] HGVS Name: HBA1:c.88C>G
Hb Name: Hb Kosovo Protein Info: α1 29(B10) Leu>Val

Context nucleotide sequence:
CGCTGGCGAGTATGGTGCGGAGGCC [C/G] TGGAGAGGTGAGGCTCCCTCCCCTG (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEAVERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

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: 37667
Size: 1 bp
Located at: α1
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Yugoslavian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

Publications / Origin

To the best of our knowledge, this is unpublished data.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

Created on 2014-01-09 12:52:51, Last reviewed on 2014-04-17 10:49:14 (Show full history)

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