IthaID: 1088



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 87 ACA>CCA HGVS Name: HBB:c.262A>C
Hb Name: Hb Valletta Protein Info: β 87(F3) Thr>Pro

Context nucleotide sequence:
GGACAACCTCAAGGGCACCTTTGCC [A/C] CACTGAGTGAGCTGCACTGTGACAA (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFAPLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70986
Size: 1 bp
Located at: β
Specific Location: Exon 2

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-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
321Hb VallettaβD-10Dual Kit Program84.11.69Heterozygous. Elutes with HbA. Clinically normal. This mutation is usually linked in cis to HbF Malta. [PDF]
482Hb VallettaβD-10Dual Kit Program66.31.74Compound heterozygote with Hb Lepore. Elutes as HbA0. [PDF]
324Hb VallettaβVARIANT IIDual Kit Program81.61.75Heterozygous. Elutes with HbA. Clinically normal. This mutation is usually linked in cis to HbF Malta.[PDF]
485Hb VallettaβVARIANT IIDual Kit Program61.21.886Compound heterozygote with Hb Lepore. Elutes as HbA0. [PDF]
322Hb VallettaβVARIANTβ-thal Short Program872.46Heterozygous. Elutes with HbA. Clinically normal. This mutation is usually linked in cis to HbF Malta.[PDF]
483Hb VallettaβVARIANTβ-thal Short Program66.42.58Compound heterozygote with Hb Lepore. Elutes as HbA0. [PDF]
323Hb VallettaβVARIANT IIβ-thal Short Program85.82.39Heterozygous. Elutes with HbA. Clinically normal. This mutation is usually linked in cis to HbF Malta.[PDF]
484Hb VallettaβVARIANT IIβ-thal Short Program66.12.65Compound heterozygote with Hb Lepore. Elutes as HbA0. [PDF]

Sequence Viewer

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Publications / Origin

  1. Kutlar F, Felice AE, Grech JL, Bannister WH, Kutlar A, Wilson JB, Webber BB, Hu HY, Huisman TH, The linkage of Hb Valletta [alpha 2 beta 287(f3)Thr----Pro] and Hb F-Malta-I [alpha 2G gamma 2117(G19)His----Arg] in the Maltese population., Human genetics, 86(6), 591-4, 1991 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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