IthaID: 1179



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 111 GTC>CTC, CD 119 GGC>GAC HGVS Name: HBB:c.[334G>C;359G>A]
Hb Name: Hb Fannin-Lubbock II Protein Info: β 111(G13) Val>Leu AND β 119(GH2) Gly>Asp

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

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLLCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71908
Size: 1 bp
Located at: β
Specific Location: Exon 3

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(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: American | Mexican | Spanish
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

HPLC

Disclaimer: The HPLC images are provided as an information resource only. Bio-Rad Laboratories, Inc and the ITHANET Portal disclaim responsibility and have no liability if this information is used for diagnostic or treatment purposes. D-10™ and VARIANT™ are registered trademarks of Bio-Rad Laboratories, Inc. and used with permission. Redistribution and use of the above material is allowed only with permission by Bio-Rad Laboratories, Inc. To access HPLC images and reports for different variants, use the IthaChrom tool.
ID Hb Variant Gene Instrument Method Area (%) Ret Time (min) Comments
153Hb Fannin-Lubbock IIβD-10Dual Kit Program341.54This variant carries in addition to the mutation of Hb Fannin Lubbock [Gly>Asp] a second neutral mutation [beta Val>Leu] which modifies the retention time in RP-HPLC. Clinically normal. [PDF]
156Hb Fannin-Lubbock IIβVARIANT IIDual Kit Program36.51.66This variant carries in addition to the mutation of Hb Fannin Lubbock [Gly>Asp] a second neutral mutation [beta Val>Leu] which modifies the retention time in RP-HPLC. Clinically normal.[PDF]
154Hb Fannin-Lubbock IIβVARIANTβ-thal Short Program36.51.82This variant carries in addition to the mutation of Hb Fannin Lubbock [Gly>Asp] a second neutral mutation [beta Val>Leu] which modifies the retention time in RP-HPLC. Clinically normal. [PDF]
155Hb Fannin-Lubbock IIβVARIANT IIβ-thal Short Program36.11.91This variant carries in addition to the mutation of Hb Fannin Lubbock [Gly>Asp] a second neutral mutation [beta Val>Leu] which modifies the retention time in RP-HPLC. Clinically normal.[PDF]

Sequence Viewer

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Publications / Origin

  1. Qin WB, Pobedimskaya DD, Molchanova TP, Wilson JB, Gu LH, de Pablos JM, Huisman TH, Hb Fannin-Lubbock in five Spanish families is characterized by two mutations: beta 111 GTC-->CTC (Val-->Leu) and beta 119 GGC-->GAC (Gly-->Asp)., Hemoglobin, 18(4), 297-306, 1994 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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