IthaID: 1210


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 119 GGC>GAC HGVS Name: HBB:c.359G>A
Hb Name: Hb Fannin-Lubbock I Protein Info: β 119(GH2) Gly>Asp

Context nucleotide sequence:
GTCTGTGTGCTGGCCCATCACTTTG [A/C/G/T] CAAAGAATTCACCCCACCAGTGCAG (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFDKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

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: 71933
Size: 1 bp
Located at: β
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: American | Mexican | Spanish
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Publications / Origin

  1. Moo-Penn WF, Bechtel KC, Johnson MH, Jue DL, Therrell BL, Morrison BY, Schmidt RM, Hemoglobin Fannin-Lubbock [alpha2 beta 2 119 (GH2) Gly replaced by Asp]. A new hemoglobin variant at the alpha1 beta 1 contact., Biochimica et biophysica acta, 453(2), 472-7, 1976
  2. Ibarra B, Aizpuru E, Sánchez-López JY, Morales KR, Perea FJ, Ruiz-Reyes G, HB Fannin-Lubbock-I with a single GGC>GAC mutation at beta119(GH2)Gly-->Asp in a homozygous Mexican patient., Hemoglobin, 33(6), 492-7, 2009
Created on 2010-06-16 16:13:17, Last reviewed on 2020-12-17 23:04:28 (Show full history)

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