IthaID: 851

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Variant of Uncertain Significance
Common Name:	CD 15 TGG>GGG	HGVS Name:	HBB:c.46T>G
Hb Name:	Hb Randwick	Protein Info:	β 15(A12) Trp>Gly

Context nucleotide sequence:
GGAGAAGTCTGCCGTTACTGCCCTG [A/C/G/T] GGGGCAAGGTGAACGTGGATGAAGT (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALGGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

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:	70640
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
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
493	Hb Randwick	β	D-10	Dual Kit Program	52.4	1.82	Double heterozygote for Hb Randwick and beta-thalassaemia.	[PDF]
452	Hb Randwick	β	D-10	Dual Kit Program	81.4	1.69	Elutes with HbA. Mildly unstable.	[PDF]
494	Hb Randwick	β	VARIANT	β-thal Short Program	67.7	2.64	Double heterozygote for Hb Randwick and beta-thalassaemia.	[PDF]
453	Hb Randwick	β	VARIANT	β-thal Short Program	82.6	2.38	Elutes with HbA. Mildly unstable.	[PDF]
495	Hb Randwick	β	VARIANT II	β-thal Short Program	66.8	2.66	Double heterozygote for Hb Randwick and beta-thalassaemia.	[PDF]
455	Hb Randwick	β	VARIANT II	Dual Kit Program	2.9	2.995	Elutes with HbA2. Mildly unstable.	[PDF]
454	Hb Randwick	β	VARIANT II	β-thal Short Program	81.8	2.41	Elutes with HbA. Mildly unstable.	[PDF]
235	Hb Randwick	β	VARIANT II	Dual Kit Program	61.2	2.98	Double heterozygote (Hb Randwick with Beta thalassemia). It elutes in the position of HbA0 in all the systems except in the VARIANT II Dual Beta Thal program where it co-elutes with HbA2. Its association with a beta thal is extremely rare and explains both the anaemia and an increased HbF and HbA2 and if it is a beta 0 thal all the fraction eluting at the position of HbA0 is the variant.	[PDF]

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

Gilbert AT, Fleming PJ, Sumner DR, Hughes WG, Ip F, Kwan YL, Holland RA, Hemoglobin Randwick or beta 15 (A12)Trp----Gly: a new unstable beta-chain hemoglobin variant., Hemoglobin, 12(2), 149-61, 1988 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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