IthaID: 1210

Names and Sequences

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

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: Variant is located at the α1β1 contact and results in mild instability.

External Links


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


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

In silico pathogenicity prediction

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

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 PubMed
  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 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2023-02-21 11:50:35 (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.