IthaID: 1432



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 59 AAA>GAA HGVS Name: HBG2:c.178A>G
Hb Name: Hb F-Emirates Protein Info: Gγ 59(E3) Lys>Glu

Context nucleotide sequence:
TGCCTCTGCCATCATGGGCAACCCC [A/C/G] AAGTCAAGGCACATGGCAAGAAGGT (Strand: -)

Protein sequence:
MGHFTEEDKATITSLWGKVNVEDAGGETLGRLLVVYPWTQRFFDSFGNLSSASAIMGNPEVKAHGKKVLTSLGDAIKHLDDLKGTFAQLSELHCDKLHVDPENFKLLGNVLVTVLAIHFGKEFTPEVQASWQKMVTGVASALSSRYH

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 43187
Size: 1 bp
Located at:
Specific Location: Exon 2

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Abbes S, Fitzgerald PA, Varady E, Girot R, Pic P, Blouquit Y, Ducrocq R, Drupt F, Wajcman H, Two fetal hemoglobin variants affecting the same residue: Hb F-Emirates [G gamma 59(E3)Lys-->Glu] and Hb F-Sacromonte [G gamma 59(E3)Lys-->Gln], Hemoglobin, 19(3), 173-82, 1995 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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