IthaID: 2505


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Benign / Likely Benign
Common Name: CD 78 AAC>AAG [Asn>Lys] HGVS Name: HBA1:c.237C>G
Hb Name: Hb Stanleyville-II Protein Info: α1 78(EF7) Asn>Lys

Context nucleotide sequence:
TGGCGCACGTGGACGACATGCCCAA [C/G] GCGCTGTCCGCCCTGAGCGACCTGC (Strand: +)

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 37933
Size: 1 bp
Located at: α1
Specific Location: Exon 2

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Van Ros G, Beale D, Lehmann H, Haemoglobin Stanleyville II (alpha asparagine replaced by lysine)., Br Med J , 4(5623), 92-3, 1968
  2. North ML, Darbre PD, Lehmann H, Juif JG, Haemoglobin Stanleyville II (alpha75 [EF 7] Asn yeilds Lys) found in France., Acta Haematol. , 53(1), 56-9, 1975
  3. Rhoda MD, Martin J, Blouquit Y, Garel MC, Edelstein SJ, Rosa J, Sickle cell hemoglobin fiber formation strongly inhibited by the Stanleyville II mutation (alpha 78 Asn leads to Lys)., Biochem. Biophys. Res. Commun. , 111(1), 8-13, 1983
  4. Moradkhani K, Préhu C, Old J, Henderson S, Balamitsa V, Luo HY, Poon MC, Chui DH, Wajcman H, Patrinos GP, Mutations in the paralogous human alpha-globin genes yielding identical hemoglobin variants., Ann. Hematol. , 88(6), 535-43, 2009
Created on 2014-06-05 11:40:42, Last reviewed on (Show full history)

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