IthaID: 359


Names and Sequences

Functionality: Globin gene causative mutation
Common Name: IVS I-1 (-5 bp) GAGGTGAGG>GAGG----- donor HGVS Name: HBA2:c.95+2_95+6delTGAGG
Hb Name: N/A Protein Info: α2 nts 134-138 deleted

Context nucleotide sequence:
GTATGGTGCGGAGGCCCTGGAGAGG [-/TGAGG] CTCCCTCCCCTGCTCCGACCCGGGC (Strand: +)

Also known as: α-5nt

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 33872
Size: 5 bp
Located at: α2
Specific Location: Intron 1

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α⁺
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Consensus splice site (mRNA Processing)
Ethnic Origin: Mediterranean, Middle East, Dutch, Moroccan
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Frequencies

Publications / Origin

  1. Orkin SH, Goff SC, Hechtman RL, Mutation in an intervening sequence splice junction in man., Proceedings of the National Academy of Sciences of the United States of America, 78(8), 5041-5, 1981
  2. Felber BK, Orkin SH, Hamer DH, Abnormal RNA splicing causes one form of alpha thalassemia., Cell , 29(3), 895-902, 1982
  3. Harteveld KL, Heister AJ, Giordano PC, Losekoot M, Bernini LF, Rapid detection of point mutations and polymorphisms of the alpha-globin genes by DGGE and SSCA., Hum. Mutat. , 7(2), 114-22, 1996
Created on 2010-06-16 16:13:15, Last reviewed on 2018-05-16 19:02:08 (Show full history)

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