IthaID: 1453


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 117 CAT>CGT HGVS Name: HBG2:c.353A>G
Hb Name: Hb F-Malta-I Protein Info: Gγ 117(G19) His>Arg

Context nucleotide sequence:
GTGCTGGTGACCGTTTTGGCAATCC [A/G] TTTCGGCAAAGAATTCACCCCTGAG (Strand: -)

Protein sequence:
MGHFTEEDKATITSLWGKVNVEDAGGETLGRLLVVYPWTQRFFDSFGNLSSASAIMGNPKVKAHGKKVLTSLGDAIKHLDDLKGTFAQLSELHCDKLHVDPENFKLLGNVLVTVLAIRFGKEFTPEVQASWQKMVTGVASALSSRYH

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 44248
Size: 1 bp
Located at:
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Italian, Maltese
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
325Hb F-Malta-IVARIANT IIβ-thal Short Program49.71.16Heterozygous. Elutes near to HbF. Clinically normal. Associated in cis to Hb Valletta.[PDF]
326Hb F-Malta-IVARIANT IIβ-thal Short Program53.31.17Heterozygous. Elutes near to HbF. Clinically normal. Associated in cis to Hb Valletta.[PDF]

In silico pathogenicity prediction

Publications / Origin

  1. Cauchi MN, Clegg JB, Weatherall DJ, Haemoglobin F(Malta): a new foetal haemoglobin variant with a high incidence in Maltese infants., Nature, 223(5203), 311-3, 1969
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.