IthaID: 597


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 68 +GCGCTGACCAAC [+Ala-Leu-Thr-Asn] HGVS Name: HBA1:c.207_208insGCGCTGACCAAC
Hb Name: Hb Esch Protein Info: Ala-Leu-Thr-Asn- inserted between codons 68(E17) and 69(E18) of α1

Context nucleotide sequence:
GAAGGTGGCCGACGCGCTGACCAAC [-/GCGCTGAC] GCCGTGGCGCACGTGGACGACATGC (Strand: +)

Also known as:

External Links

Phenotype

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

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 37904
Size: 12 bp
Located at: α1
Specific Location: Exon 2

Other details

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

Publications / Origin

  1. Préhu C, Groff P, Kalmes G, Golinska B, Riou J, Prome D, Richelme-David S, Kiger L, Ducrocq R, Wajcman H, Short insertion in a hemoglobin chain: Hb Esch, an unstable alpha1 variant with duplication of the sequence Ala65-Leu-Thr-Asn68., Blood Cells Mol. Dis. , 31(2), 234-9, 2003
Created on 2010-06-16 16:13:15, Last reviewed on 2014-04-10 09:02:25 (Show full history)

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