IthaID: 1068

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Variant of Uncertain Significance
Common Name:	CD 80 AAC>AAA or AAG	HGVS Name:	HBB:c.243C>A \| HBB:c.243C>G
Hb Name:	Hb G-Szuhu	Protein Info:	β 80(EF4) Asn>Lys

Context nucleotide sequence:
GTGATGGCCTGGCTCACCTGGACAA [A/C/G] CTCAAGGGCACCTTTGCCACACTGA (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDKLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as: Hb Gifu

External Links

HbVar	dbSNP
OMIM	SwissVar
LOVD

Phenotype

Hemoglobinopathy Group:	Structural Haemoglobinopathy
Hemoglobinopathy Subgroup:	β-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:	11
Locus:	NG_000007.3
Locus Location:	70967
Size:	1 bp
Located at:	β
Specific Location:	Exon 2

Other details

Type of Mutation:	Point-Mutation(Substitution)
Effect on Gene/Protein Function:	N/A
Ethnic Origin:	Chinese \| English \| Japanese \| Jewish \| Sicilian \| Spanish
Molecular mechanism:	N/A
Inheritance:	Recessive
DNA Sequence Determined:	No

HPLC

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ID	Hb Variant	Gene	Instrument	Method	Area (%)	Ret Time (min)	Comments
199	Hb G-Szuhu	β	D-10	Dual Kit Program	32.2	4.17	Clinically normal. Elutes in HbS window.	[PDF]
200	Hb G-Szuhu	β	VARIANT	β-thal Short Program	37.7	4.54	Clinically normal.	[PDF]
201	Hb G-Szuhu	β	VARIANT II	β-thal Short Program	34.5	2.13		[PDF]
202	Hb G-Szuhu	β	VARIANT II	Dual Kit Program	3.2	3.017		[PDF]

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

Blackwell RQ, Yang HJ, Wang CC, Hemoglobin G Szuhu: beta80 Asn replaced by Lys., Biochimica et biophysica acta, 188(1), 59-64, 1969 PubMed
Matsutomo K, Miyaji T, Iuchi I, Ueda S, Shibata S, Hb Gifu (beta 80 Asn-Lys), a new slow moving hemoglobin detected from two families of Japanese., Nippon Ketsueki Gakkai Zasshi , 34(4), 479-83, 1971 PubMed
Kaufman S, Leiba H, Clejan L, Wallis K, Lorkin PA, Lehmann H, Haemoglobin G-Szuhu, beta80 Asn-Lys, in the homozygous state in a patient with abetalipoproteinaemia., Hum. Hered. , 25(1), 60-8, 1975 PubMed
Schillirò G, Russo-Mancuso G, Dibenedetto SP, Samperi P, di Cataldo A, Ragusa R, Testa R, Six rare hemoglobin variants found in Sicily., Hemoglobin, 15(5), 431-7, 1991 PubMed

Created on 2010-06-16 16:13:16, Last reviewed on 2017-04-11 12:01:51 (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.
3	2017-04-11 12:01:51	The IthaGenes Curation Team	Reviewed. Mutation Names/DNA Info added. References added.

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