IthaID: 1443



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 80 GAT>AAT HGVS Name: HBG2:c.241G>A
Hb Name: Hb F-Marietta Protein Info: Gγ 80(EF4) Asp>Asn

Context nucleotide sequence:
GGGAGATGCCATAAAGCACCTGGAT [A/G/T] ATCTCAAGGGCACCTTTGCCCAGCT (Strand: -)

Protein sequence:
MGHFTEEDKATITSLWGKVNVEDAGGETLGRLLVVYPWTQRFFDSFGNLSSASAIMGNPKVKAHGKKVLTSLGDAIKHLDNLKGTFAQLSELHCDKLHVDPENFKLLGNVLVTVLAIHFGKEFTPEVQASWQKMVTGVASALSSRYH

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: 43250
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: Caucasian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Nakatsuji T, Lam H, Carver J, Huisman TH, Hb F-Marietta or G gamma I 80[EF4] Asp replaced by Asn, observed in a Caucasian baby., Hemoglobin, 6(4), 407-11, 1982 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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