IthaID: 708


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Benign / Likely Benign
Common Name: CD 112 CAC>GAC [His>Asp] HGVS Name: NM_000558.5(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:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

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]

In silico pathogenicity prediction

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
  2. Clegg JB, Charache S, The structure of hemoglobin Hopkins-2., Hemoglobin , 2(1), 85-8, 1978
  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
Created on 2010-06-16 16:13:16, Last reviewed on 2024-04-12 10:36:33 (Show full history)

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