IthaID: 1179

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	N/A
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

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar	dbSNP
dbSNP	OMIM
LOVD

Phenotype

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

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	11
Locus:	NG_000007.3
Locus Location:	71908
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:	Altered α1β1 interface
Inheritance:	Recessive
DNA Sequence Determined:	Yes

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
153	Hb Fannin-Lubbock II	β	D-10	Dual Kit Program	34	1.54	This 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]
154	Hb Fannin-Lubbock II	β	VARIANT	β-thal Short Program	36.5	1.82	This 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]
155	Hb Fannin-Lubbock II	β	VARIANT II	β-thal Short Program	36.1	1.91	This 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]
156	Hb Fannin-Lubbock II	β	VARIANT II	Dual Kit Program	36.5	1.66	This 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]

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

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
González FA, Ropero P, Arrizabalaga B, García P, Cela E, Villegas A, [Fannin-Lubbock II hemoglobin [beta111(G13)Val -> Leu y beta119(GH2)Gly -> Asp]: description of 4 new cases]., Med Clin (Barc), 129(10), 379-81, 2007 PubMed

Created on 2010-06-16 16:13:17, Last reviewed on 2020-12-17 23:03:27 (Show full history)

A/A	Date	Curator(s)	Comments
1	2010-06-16 16:13:17	The IthaGenes Curation Team	Created
2	2013-10-15 17:00:14	The IthaGenes Curation Team	Reviewed.
3	2020-12-17 23:03:27	The IthaGenes Curation Team	Reviewed. Reference added.

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