IthaID: 421



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 142 (TAA>GAA) >172aa HGVS Name: HBA2:c.427T>G
Hb Name: Hb Seal Rock Protein Info: α2 142, Stop>Glu; modified C-terminal sequence: (142)Glu-Ala-Gly-Ala-Ser-Val-Ala-Val-Pro-Pro-Ala- Arg-Trp-Ala-Ser-Gln-Arg-Ala-Leu-Leu-Pro- Ser-Leu-His-Arg-Pro-Phe-Leu-Val-Phe-(172)Glu-COOH

Context nucleotide sequence:
CACCGTGCTGACCTCCAAATACCGT [A/C/G/T] AAGCTGGAGCCTCGGTAGCCGTTCC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYRE

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34461
Size: 1 bp
Located at: α2
Specific Location: Exon 3

Phenotype

Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-thalassaemia, α-chain variant
Allele Phenotype:α⁺
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: African
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
376Hb Seal Rockα2D-10Dual Kit Program1.54.59Heterozygous. Modified C-terminal sequence.[PDF]
379Hb Seal Rockα2VARIANT IIDual Kit Program0.74.104Heterozygous. Modified C-terminal sequence.[PDF]
377Hb Seal Rockα2VARIANTβ-thal Short Program1.94.7Heterozygous. Modified C-terminal sequence.[PDF]
378Hb Seal Rockα2VARIANT IIβ-thal Short Program0.94.77Heterozygous. Modified C-terminal sequence.[PDF]

Sequence Viewer

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Frequencies

Publications / Origin

  1. Merritt D, Jones RT, Head C, Thibodeau SN, Fairbanks VF, Steinberg MH, Coleman MB, Rodgers GP, Hb Seal Rock [(alpha 2)142 term-->Glu, codon 142 TAA-->GAA]: an extended alpha chain variant associated with anemia, microcytosis, and alpha-thalassemia-2 (-3.7 Kb)., Hemoglobin , 21(4), 331-44, 1997 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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