IthaID: 1453



Names and Sequences

Functionality: Globin gene causative mutation
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

Location

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

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Italian, Maltese
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

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]

Sequence Viewer

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

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