IthaID: 2402


Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 31 AGG>ACG [Arg>Thr] HGVS Name: HBA1:c.95G>C
Hb Name: Hb Mao Protein Info: α1 31(B12) Arg>Thr

Context nucleotide sequence:
GAGTATGGTGCGGAGGCCCTGGAGA [C/G] GTGAGGCTCCCTCCCCTGCTCCGAC (Strand: +)

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 37674
Size: 1 bp
Located at: α1
Specific Location: Exon 1

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Italian
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Publications / Origin

To the best of our knowledge, this is unpublished data.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

Created on 2014-05-27 10:51:17, Last reviewed on (Show full history)

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