IthaID: 708



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 112 CAC>GAC [His>Asp] HGVS Name: HBA1:c.337C>G
Hb Name: Hb Hopkins-II Protein Info: α1 112(G19) His>Asp

Context nucleotide sequence:
CTGCCTGCTGGTGACCCTGGCCGCC [C/G] ACCTCCCCGCCGAGTTCACCCCTGC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAADLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

Phenotype

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

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 38182
Size: 1 bp
Located at: α1
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Caucasian
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
347Hb Hopkins-IIα1D-10Dual Kit Program21.41.39Heterozygote.[PDF]
277Hb Hopkins-IIα1D-10Dual Kit Program18.31.41heterozygote[PDF]
348Hb Hopkins-IIα1VARIANTβ-thal Short Program12.51.46Heterozygote.[PDF]
278Hb Hopkins-IIα1VARIANTβ-thal Short Program19.31.5heterozygote[PDF]
350Hb Hopkins-IIα1VARIANT IIDual Kit Program22.61.49Heterozygote.[PDF]
349Hb Hopkins-IIα1VARIANT IIβ-thal Short Program10.31.6Heterozygote.[PDF]
280Hb Hopkins-IIα1VARIANT IIDual Kit Program19.51.5heterozygote[PDF]
279Hb Hopkins-IIα1VARIANT IIβ-thal Short Program191.51heterozygote[PDF]

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Publications / Origin

  1. Charache S, Ostertag W, von Ehrenstein G, Clinical studies and physiological properties of Hopkins-2 haemoglobin., Nature New Biol. , 234(51), 248-51, 1971 PubMed
  2. Clegg JB, Charache S, The structure of hemoglobin Hopkins-2., Hemoglobin , 2(1), 85-8, 1978 PubMed
  3. Henderson SJ, Timbs AT, McCarthy J, Gallienne AE, Proven M, Rugless MJ, Lopez H, Eglinton J, Dziedzic D, Beardsall M, Khalil MS, Old JM, Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations., Hemoglobin , 40(2), 75-84, 2016 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2021-04-07 12:22:56 (Show full history)

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