IthaID: 1029



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 69 (+GCTCGG) HGVS Name: HBB:c.204_209dupGCTCGG
Hb Name: Hb Nishinomiya Protein Info: β 69(E13) Gly->0 AND Gly-Leu-Gly- inserted between 68(E12) and 70(E14) of β

Context nucleotide sequence:
AGGCTCATGGCAAGAAAGTGCTCGG [-/GCTCGG] TGCCTTTAGTGATGGCCTGGCTCAC (Strand: -)

Also known as:

Comments: Found in a patient with spherocytic hemolysis. This mutation resulted in the insertion of two amino acid residues β69GGT(Gly)>GGG(Gly)CTC(Leu)GGT(Gly). Insertion of Leu-Gly between positions 69(E13) and 70(E14) of the chain alters the amino acid residues of helix E in and around the heme pocket. Amino acid substitutions around position 70-73(E14-17) of the chain are likely to alter stability and oxygen affinity.

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70928
Size: 5 bp
Located at: β
Specific Location: Exon 2

Phenotype

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

Other details

Type of Mutation: Point-Mutation(Insertion)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Japanese
Inheritance: Recessive
DNA Sequence Determined: No

Sequence Viewer

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Publications / Origin

  1. Naito Y, Takahashi T, Matsunashi T, Harano K, Harano T, Hb Nishinomiya [Leu-Gly-inserted between codons 69(E13) and 70(E14) of beta]: a novel unstable hemoglobin with reduced oxygen affinity found in a patient with spherocytic hemolysis., International journal of hematology, 76(2), 146-8, 2002 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2019-11-13 10:02:17 (Show full history)

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