IthaID: 830

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Benign / Likely Benign
Common Name:	CD 7 GAG>GGG	HGVS Name:	HBB:c.23A>G
Hb Name:	Hb G-San José	Protein Info:	β 7(A4) Glu>Gly

Context nucleotide sequence:
ACCATGGTGCATCTGACTCCTGAGG [A/G] GAAGTCTGCCGTTACTGCCCTGTGG (Strand: -)

Protein sequence:
MVHLTPEGKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar	dbSNP
OMIM	SwissVar
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:	70617
Size:	1 bp
Located at:	β
Specific Location:	Exon 1

Other details

Type of Mutation:	Point-Mutation(Substitution)
Effect on Gene/Protein Function:	N/A
Ethnic Origin:	Italian, Mexican
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
441	Hb G-San José	β	D-10	Dual Kit Program	28.5	4.18	Clinically normal. Elutes in S Window.	[PDF]
409	Hb G-San José	β	D-10	Dual Kit Program	31	4.17	Clinically normal. Elutes in S Window.	[PDF]
442	Hb G-San José	β	VARIANT	β-thal Short Program	31.3	4.52	Clinically normal.	[PDF]
410	Hb G-San José	β	VARIANT	β-thal Short Program	34.5	4.54	Clinically normal.	[PDF]
444	Hb G-San José	β	VARIANT II	Dual Kit Program	31.3	3.623	Clinically normal.	[PDF]
443	Hb G-San José	β	VARIANT II	β-thal Short Program	33.3	4.6	Clinically normal. Elutes in S Window.	[PDF]
412	Hb G-San José	β	VARIANT II	Dual Kit Program	32.9	3.564	Clinically normal.	[PDF]
411	Hb G-San José	β	VARIANT II	β-thal Short Program	36.6	4.6	Clinically normal. Elutes in S Window.	[PDF]

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

Musumeci S, Schilirò G, Pizzarelli G, Tentori L, Marinucci M, Fontanarosa PP, Russo G, Hemoglobin G San José [beta 2 7 (A4) Glu to Gly alpha 2], beta thalassemia, and alpha thalassemia in a Sicilian family., Human genetics, 52(2), 239-47, 1979 PubMed

Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (Show full history)

A/A	Date	Curator(s)	Comments
1	2010-06-16 16:13:16	The IthaGenes Curation Team	Created
2	2013-10-15 17:00:14	The IthaGenes Curation Team	Reviewed.

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