IthaID: 1173



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 108 AAC>AGC [Asn>Ser] HGVS Name: HBB:c.326A>G
Hb Name: Hb Santa Juana Protein Info: β 108(G10) Asn>Ser

Context nucleotide sequence:
ATCTTCCTCCCACAGCTCCTGGGCA [A/G/T] CGTGCTGGTCTGTGTGCTGGCCCAT (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGSVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as: Hb Serres

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-chain variant
Allele Phenotype:N/A
Stability: N/A
Oxygen Affinity: Decreased Oxygen Affinity
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71900
Size: 1 bp
Located at: β
Specific Location: Exon 3

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Ng HL, Koh CK, Aberrantly high glycated haemoglobin measurement due to the haemoglobin variant Hb Santa Juana., Singapore Med J , 52(4), e75-8, 2011 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2014-04-15 18:36:39 (Show full history)

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