IthaID: 1282

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Pathogenic / Likely Pathogenic
Common Name:	CD 140 GCC>ACC	HGVS Name:	HBB:c.421G>A
Hb Name:	Hb Saint-Jacques	Protein Info:	β 140(H18) Ala>Thr

Context nucleotide sequence:
GAAAGTGGTGGCTGGTGTGGCTAAT [A/G] CCCTGGCCCACAAGTATCACTAAGC (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANTLAHKYH

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:	N/A
Oxygen Affinity:	Increased Oxygen Affinity
Associated Phenotypes:	N/A

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	11
Locus:	NG_000007.3
Locus Location:	71995
Size:	1 bp
Located at:	β
Specific Location:	Exon 3

Other details

Type of Mutation:	Point-Mutation(Substitution)
Effect on Gene/Protein Function:	Missense codons (Protein Structure)
Ethnic Origin:	Caucasian
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
114	Hb Saint-Jacques	β	D-10	Dual Kit Program	76.1	1.72	Heterozygous. Hb variant with increased oxygen affinity.	[PDF]
115	Hb Saint-Jacques	β	VARIANT	β-thal Short Program	79.2	2.5	Heterozygous. Hb variant with increased oxygen affinity.	[PDF]
116	Hb Saint-Jacques	β	VARIANT II	β-thal Short Program	80.5	2.56	Heterozygous. Hb variant with increased oxygen affinity.	[PDF]
117	Hb Saint-Jacques	β	VARIANT II	Dual Kit Program	29.6	2.316	Heterozygous. Hb variant with increased oxygen affinity.	[PDF]

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

Rochette J, Varet B, Boissel JP, Clough K, Labie D, Wajcman H, Bohn B, Magne P, Poyart C, Structure and function of Hb Saint-Jacques (alpha 2 beta 2 140 (H18) Ala----Thr): a new high-oxygen-affinity variant with altered bisphosphoglycerate binding., Biochimica et biophysica acta, 785(1), 14-21, 1984 PubMed

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

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

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