IthaID: 1119

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Variant of Uncertain Significance
Common Name:	CD 95 AAG>GAG	HGVS Name:	HBB:c.286A>G
Hb Name:	Hb N-Baltimore	Protein Info:	β 95(FG2) Lys>Glu

Context nucleotide sequence:
CACACTGAGTGAGCTGCACTGTGAC [A/G] AGCTGCACGTGGATCCTGAGAACTT (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDELHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as: Hb Hopkins-I , Hb Jenkins , Hb N-Memphis , Hb Kenwood

External Links

HbVar	dbSNP
OMIM

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:	71010
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:	African
Molecular mechanism:	N/A
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
404	Hb N-Baltimore	β	VARIANT	β-thal Short Program	83.7	1.65		[PDF]
556	Hb N-Baltimore	β	D-10	Dual Kit Program	80.8	1.46	Hb N-Baltimore / Beta zero thalassaemia. Clinical normal.	[PDF]
557	Hb N-Baltimore	β	VARIANT II	β-thal Short Program	81.3	1.61	Hb N-Baltimore / Beta zero thalassaemia. Clinical normal.	[PDF]
558	Hb N-Baltimore	β	VARIANT II	Dual Kit Program	79	1.535	Hb N-Baltimore / Beta zero thalassaemia. Clinical normal.	[PDF]

Sequence Viewer

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Publications / Origin

Clegg JB, Naughton MA, Weatherall DJ, An improved method for the characterization of human haemoglobin mutants: identification of alpha-2-beta-2-95GLU, haemoglobin N (Baltimore)., Nature, 207(5000), 945-7, 1965 PubMed
Dobbs NB, Simmons JW, Wilson JB, Huisman TH, Hemoglobin Jenkins or hemoglobin-N-Baltimore or alpha-2-beta-2 95Glu., Biochim. Biophys. Acta , 117(2), 492-4, 1966 PubMed
Gottlieb AJ, Robinson EA, Itano HA, Primary structure of Hopkins-1 haemoglobin., Nature , 214(5084), 189-90, 1967 PubMed
Johnson C, Powars D, Schroeder WA, A case with both hemoglobins C and N-Baltimore., Acta Haematol. , 56(3), 183-8, 1976 PubMed

Created on 2010-06-16 16:13:16, Last reviewed on 2017-04-18 12:48:09 (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	2017-04-18 12:48:09	The IthaGenes Curation Team	Reviewed. Mutation Names/DNA Info added. References added.

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