IthaID: 2412


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 100 CCT>TCT [Pro>Ser] HGVS Name: HBB:c.301C>T
Hb Name: Hb Niort Protein Info: β 100(G2) Pro>Ser

Context nucleotide sequence:
GCACTGTGACAAGCTGCACGTGGAT [A/C/G/T] CTGAGAACTTCAGGGTGAGTCTATG (Strand: -)

Also known as:

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: Unstable
Oxygen Affinity: Increased Oxygen Affinity
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71025
Size: 1 bp
Located at: β
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: French
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Publications / Origin

  1. Wajcman H, Belkhodja O, Labie D, [Niort hemoglobin: a new unstable hemoglobin]., Bull. Soc. Chim. Biol. , 52(11), 1223-31, 1970
Created on 2014-05-28 09:55:05, Last reviewed on (Show full history)

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