IthaID: 1076

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Variant of Uncertain Significance
Common Name:	CD 82 AAG>AAT or AAC	HGVS Name:	HBB:c.249G>C \| HBB:c.249G>T
Hb Name:	Hb Providence	Protein Info:	β 82(EF6) Lys>Asn

Context nucleotide sequence:
GCCTGGCTCACCTGGACAACCTCAA [C/G/T] GGCACCTTTGCCACACTGAGTGAGC (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLNGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar	dbSNP
OMIM	SwissVar

Phenotype

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

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	11
Locus:	NG_000007.3
Locus Location:	70973
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:	Japanese \| African
Molecular mechanism:	Altered 2,3-DPG binding site
Inheritance:	Recessive
DNA Sequence Determined:	No

HPLC

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ID	Hb Variant	Gene	Instrument	Method	Area (%)	Ret Time (min)	Comments
101	Hb Providence	β	D-10	Dual Kit Program	16.4	0.97	This variant is spontaneously deaminated X-Asn 13-19%; X-Asp 32-33% leading to several fast eluting peaks.	[PDF]
606	Hb Providence	β	D-10	Dual Kit Program	31.3	0.3	This variant is spontaneously deaminated X-Asn 13-19%; X-Asp 32-33% leading to several fast eluting peaks.	[PDF]
607	Hb Providence	β	D-10	Dual Kit Program	16.4	0.97	This variant is spontaneously deaminated X-Asn 13-19%; X-Asp 32-33% leading to several fast eluting peaks.	[PDF]

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

Moo-Penn WF, Jue DL, Bechtel KC, Johnson MH, Schmidt RM, Hemoglobin Providence. A human hemoglobin variant occurring in two forms in vivo., The Journal of biological chemistry, 251(23), 7557-62, 1976 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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