IthaID: 962



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 47 GAT>TAT HGVS Name: HBB:c.142G>T
Hb Name: Hb Maputo Protein Info: β 47(CD6) Asp>Tyr

Context nucleotide sequence:
CCAGAGGTTCTTTGAGTCCTTTGGG [A/C/G/T] ATCTGTCCACTCCTGATGCTGTTAT (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGYLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70866
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: Caucasian | Mozambique
Inheritance: Recessive
DNA Sequence Determined: No
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
145Hb MaputoβD-10Dual Kit Program553.05Clinically normal. Elutes as HbA2. [PDF]
148Hb MaputoβVARIANT IIDual Kit Program40.12.98Clinically normal. Elutes as HbA2.[PDF]
146Hb MaputoβVARIANTβ-thal Short Program40.93.72Clinically normal. Elutes as HbA2.[PDF]
147Hb MaputoβVARIANT IIβ-thal Short Program39.63.74Clinically normal. Elutes as HbA2. [PDF]

Sequence Viewer

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Publications / Origin

  1. Moo-Penn WF, Hine TK, Johnson MH, Jue DL, Piersma H, Therrell B, Chu A, Hb Luxembourg [alpha 24(B5)Tyr----His], Hb Maputo [beta 47(CD6)Asp----Tyr], and Hb Fukuyama [beta 77(EF1)His----Tyr], Hemoglobin, 15(1), 97-101, 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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