IthaID: 1450


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 102 AAC>ACC [Asn>Thr] HGVS Name: HBG2:c.308A>C
Hb Name: Hb F-Sarajevo Protein Info: Gγ 102(G4) Asn>Thr

Context nucleotide sequence:
GACAAGCTGCATGTGGATCCTGAGA [A/C] CTTCAAGGTGAGTCCAGGAGATGTT (Strand: -)

Protein sequence:
MGHFTEEDKATITSLWGKVNVEDAGGETLGRLLVVYPWTQRFFDSFGNLSSASAIMGNPKVKAHGKKVLTSLGDAIKHLDDLKGTFAQLSELHCDKLHVDPETFKLLGNVLVTVLAIHFGKEFTPEVQASWQKMVTGVASALSSRYH

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

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: 43317
Size: 1 bp
Located at:
Specific Location: Exon 2

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Lozar-Krivec J, Stepic M, Hovnik T, Krsnik M, Paro-Panjan D, Neonatal Cyanosis Due to Hemoglobin Variant: Hb F-Sarajevo., J Pediatr Hematol Oncol, 38(7), e267-70, 2016
Created on 2010-06-16 16:13:17, Last reviewed on 2021-08-27 13:26:39 (Show full history)

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