IthaID: 1436


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 66 AAG>AGG HGVS Name: HBG2:c.200A>G
Hb Name: Hb F-Shanghai Protein Info: Gγ 66(E10) Lys>Arg

Context nucleotide sequence:
CCCAAAGTCAAGGCACATGGCAAGA [A/G/T] GGTGCTGACTTCCTTGGGAGATGCC (Strand: -)

Protein sequence:
MGHFTEEDKATITSLWGKVNVEDAGGETLGRLLVVYPWTQRFFDSFGNLSSASAIMGNPKVKAHGKRVLTSLGDAIKHLDDLKGTFAQLSELHCDKLHVDPENFKLLGNVLVTVLAIHFGKEFTPEVQASWQKMVTGVASALSSRYH

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: γ-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: 43209
Size: 1 bp
Located at:
Specific Location: Exon 2

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Zeng YT, Huang SZ, Nakatsuji T, Huisman TH, -G gamma A gamma-Thalassemia and gamma-chain variants in Chinese newborn babies., American journal of hematology, 18(3), 235-42, 1985
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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