IthaID: 1044


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 74-76 (-GCCTGG) HGVS Name: HBB:c.224_229delGCCTGG
Hb Name: Hb Saint-Antoine Protein Info: β 74(E18) - 75(E19) Gly-Leu->0

Context nucleotide sequence:
AAGTGCTCGGTGCCTTTAGTGATG [-/GCCTGG] CTCACCTGGACAACCTCAAGGGCA (Strand: -)

Also known as:

Comments: The deleted segment Gly-Leu β 74–75 (E 18–19) is the end of helix E and close to a loose zone. Although it is in the vicinity of one of the 2,3-diphosphoglycerate binding sites, it has apparently only minor consequences for the functional properties of the molecule. Reported in literature as HBB:c.223_228delGGCCTG, which does not follow the HGVS Sequence Variant Nomeclature recommendations.

External Links

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70948
Size: 6 bp
Located at: β
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Mediterranean
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

Publications / Origin

  1. Wajcman H, Labie D, Schapira G, Two new hemoglobin variants with deletion. Hemoglobin tours: Thr 8 7 (F 3 ) deleted and hemoglobin St Antoine: Gly-Leu 74-75 (E 18-19 deleted. Consequences for oxygen affinity and protein stability., Biochimica et biophysica acta, 295(2), 495-504, 1973
Created on 2010-06-16 16:13:16, Last reviewed on 2019-11-11 13:09:44 (Show full history)

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