IthaID: 466

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Pathogenic / Likely Pathogenic
Common Name:	cd 15 GGT>GAT [Gly>Asp]	HGVS Name:	HBA1:c.47G>A
Hb Name:	Hb I-Interlaken	Protein Info:	α1 15(A13) Gly>Asp

Context nucleotide sequence:
AAGACCAACGTCAAGGCCGCCTGGG [A/G] TAAGGTCGGCGCGCACGCTGGCGAG (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWDKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as: Hb J-Oxford , Hb N-Cosenza

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar	dbSNP
OMIM

Phenotype

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

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	16
Locus:	NG_000006.1
Locus Location:	37626
Size:	1 bp
Located at:	α1
Specific Location:	Exon 1

Other details

Type of Mutation:	Point-Mutation(Substitution)
Effect on Gene/Protein Function:	Missense codons (Protein Structure)
Ethnic Origin:	English, Italian
Molecular mechanism:	N/A
Inheritance:	Recessive
DNA Sequence Determined:	No

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
2	Hb I-Interlaken	α1	VARIANT	β-thal Short Program	24.9	1.62	Heterozygous	[PDF]
3	Hb I-Interlaken	α1	D-10	Dual Kit Program	24.5	1.45	Heterozygous	[PDF]
4	Hb I-Interlaken	α1	VARIANT II	β-thal Short Program	24.8	1.63	Heterozygous	[PDF]
5	Hb I-Interlaken	α1	VARIANT II	Dual Kit Program	24.3	1.56	Heterozygous

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

Schiliro G, Musumeci S, Pizzarelli G, Russo A, Marinucci M, Bruni E, Russo G, A new alkali-resistant hemoglobin alpha2J Oxford gammaF2 in a Sicilian baby girl with homozygous beta0 thalassemia., Blood , 48(5), 639-51, 1976 PubMed
Schiliro G, Rizzari C, Testa R, Lo Faro F, Comisi FF, Russo A, Association of Hb S [beta 6(A3)Glu----Val] and Hb I-interlaken [alpha 15(A13)Gly----Asp] in a Sicilian man; review of the occurrence of Hb I-interlaken in Sicily., Hemoglobin , 13(4), 403-10, 1989 PubMed
Molchanova TP, Pobedimskaya DD, Huisman TH, The differences in quantities of alpha 2- and alpha 1-globin gene variants in heterozygotes., Br. J. Haematol. , 88(2), 300-6, 1994 PubMed

Created on 2010-06-16 16:13:15, Last reviewed on 2014-03-12 16:50:06 (Show full history)

A/A	Date	Curator(s)	Comments
1	2010-06-16 16:13:15	The IthaGenes Curation Team	Created
2	2014-03-12 16:50:06	The IthaGenes Curation Team	Reviewed.

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