IthaID: 828


Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 6/7(-GAG) HGVS Name: HBB:c.22_24delGAG
Hb Name: Hb Leiden Protein Info: β 6(A3) Glu->0 OR β 7(A4) Glu->0

Context nucleotide sequence:
CACCATGGTGCATCTGACTCCTGAG [-/GAG] AAGTCTGCCGTTACTGCCCTGTGGG (Strand: -)

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70616
Size: 1 bp
Located at: β
Specific Location: Exon 1

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-chain variant
Allele Phenotype:N/A
Stability: Unstable
Oxygen Affinity: Decreased Oxygen Affinity
Associated Phenotypes: N/A

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: N/A
Ethnic Origin: American | Chinese | Mexican | Netherlands | South African | Yugoslavian
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: MLPA

Publications / Origin

  1. De Jong WW, Went LN, Bernini LF, Haemoglobin Leiden: deletion of beta-6 or 7 glutamic acid., Nature, 220(5169), 788-90, 1968
Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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