IthaID: 471

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Benign / Likely Benign
Common Name:	CD 18 GGC>CGC [Gly>Arg]	HGVS Name:	HBA1:c.55G>C
Hb Name:	Hb Handsworth	Protein Info:	N/A

Context nucleotide sequence:
CGTCAAGGCCGCCTGGGGTAAGGTC [C/G] GCGCGCACGCTGGCGAGTATGGTGC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVRAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

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:	α-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:	16
Locus:	NG_000006.1
Locus Location:	37634
Size:	1 bp
Located at:	α1
Specific Location:	Exon 1

Other details

Type of Mutation:	Point-Mutation(Substitution)
Effect on Gene/Protein Function:	Missense codons (Protein Structure)
Ethnic Origin:	British
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
	159	Hb Handsworth	α1	D-10	Dual Kit Program	14.9	4.17	Heterozygous. Clinically normal.	[PDF]
	160	Hb Handsworth	α1	VARIANT	β-thal Short Program	0.7	4.7	Heterozygous. Clinically normal.	[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

Griffiths KD, Lang A, Lehmann H, Mann JR, Plowman D, Raine DN, Haemoglobin Handsworth alpha 18 (A16) glycine leads to arginne., FEBS Lett. , 75(1), 93-5, 1977 PubMed
Henderson SJ, Timbs AT, McCarthy J, Gallienne AE, Proven M, Rugless MJ, Lopez H, Eglinton J, Dziedzic D, Beardsall M, Khalil MS, Old JM, Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations., Hemoglobin , 40(2), 75-84, 2016 PubMed

Created on 2010-06-16 16:13:15, Last reviewed on 2016-08-31 14:52:04 (Show full history)

A/A	Date	Curator(s)	Comments
1	2010-06-16 16:13:15	The IthaGenes Curation Team	Created
2	2014-03-12 17:25:12	The IthaGenes Curation Team	Reviewed.
3	2016-08-31 13:28:13	The IthaGenes Curation Team	Reviewed.
4	2016-08-31 14:43:01	The IthaGenes Curation Team	Reviewed.
5	2016-08-31 14:44:13	The IthaGenes Curation Team	Reviewed.
6	2016-08-31 14:46:13	The IthaGenes Curation Team	Reviewed.
7	2016-08-31 14:52:04	The IthaGenes Curation Team	Reviewed.

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