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.

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

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
159Hb Handsworthα1D-10Dual Kit Program14.94.17Heterozygous. Clinically normal.[PDF]
160Hb Handsworthα1VARIANTβ-thal Short Program0.74.7Heterozygous. Clinically normal.[PDF]

In silico pathogenicity prediction

Publications / Origin

  1. 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
  2. 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
Created on 2010-06-16 16:13:15, Last reviewed on 2016-08-31 14:52:04 (Show full history)

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