IthaID: 1460


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 2 CAT>CAG HGVS Name: HBG1:c.9T>G
Hb Name: Hb F-Macedonia-I Protein Info: Aγ 2(NA2) His>Gln

Context nucleotide sequence:
CTCCTAGTCCAGACGCCATGGGTCA [G/T] TTCACAGAGGAGGACAAGGCTACTA (Strand: -)

Protein sequence:
MGQFTEEDKATITSLWGKVNVEDAGGETLGRLLVVYPWTQRFFDSFGNLSSASAIMGNPKVKAHGKKVLTSLGDATKHLDDLKGTFAQLSELHCDKLHVDPENFKLLGNVLVTVLAIHFGKEFTPEVQASWQKMVTAVASALSSRYH

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: 47820
Size: 1 bp
Located at:
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Macedonian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Publications / Origin

  1. Plaseska D, Cepreganova-Krstik B, Momirovska A, Efremov GD, Hb F-Macedonia-I or alpha 2A gamma (2)2(NA2)His- > Gln., Hemoglobin, 18(3), 241-5, 1994
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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