IthaID: 1385


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 116 CGC>CAC [Arg>His] HGVS Name: HBD:c.350G>A
Hb Name: Hb A2-Coburg Protein Info: δ 116(G18) Arg>His

Context nucleotide sequence:
AATGTGCTGGTGTGTGTGCTGGCCC [A/G] CAACTTTGGCAAGGAATTCACCCCA (Strand: -)

Protein sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLAHNFGKEFTPQMQAAYQKVVAGVANALAHKYH

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 64558
Size: 1 bp
Located at: δ
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Sicilian, Chinese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Frequencies

Publications / Origin

  1. Sharma RS, Williams L, Wilson JB, Huisman TH, Hemoglobin-A2-Coburg or alpha2delta2116Arg leads to His (G18)., Biochimica et biophysica acta, 393(2), 379-82, 1975
  2. Liu N, Xie XM, Zhou JY, Li R, Liao C, Li DZ, Analysis of δ-globin gene mutations in the Chinese population., Hemoglobin , 37(1), 85-93, 2013
Created on 2010-06-16 16:13:17, Last reviewed on 2017-07-11 16:43:04 (Show full history)

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