IthaID: 1193


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 115 GCC>GTC [Ala>Val] HGVS Name: HBB:c.347C>T
Hb Name: Hb Roma Protein Info: β 115(G17) Ala>Val

Context nucleotide sequence:
GGCAACGTGCTGGTCTGTGTGCTGG [C/T] CCATCACTTTGGCAAAGAATTCACC (Strand: -)

Also known as:

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: Haemolytic anaemia [HP:0001878]

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71921
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: Italian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

HPLC

Disclaimer: The HPLC images are provided as an information resource only. Bio-Rad Laboratories, Inc and the ITHANET Portal disclaim responsibility and have no liability if this information is used for diagnostic or treatment purposes. D-10™ and VARIANT™ are registered trademarks of Bio-Rad Laboratories, Inc. and used with permission. Redistribution and use of the above material is allowed only with permission by Bio-Rad Laboratories, Inc. To access HPLC images and reports for different variants, use the IthaChrom tool.
ID Hb Variant Gene Instrument Method Area (%) Ret Time (min) Comments
445Hb RomaβD-10Dual Kit Program28.54.18Elutes with HbA. [PDF]
446Hb RomaβVARIANTβ-thal Short Program31.34.52Elutes with HbA. [PDF]
447Hb RomaβVARIANT IIβ-thal Short Program3.334.6Elutes with HbA. [PDF]
448Hb RomaβVARIANT IIDual Kit Program31.33.623Elutes with HbA. [PDF]

Publications / Origin

  1. Manconi B, De Rosa MC, Cappabianca MP, Olianas A, Carelli Alinovi C, Mastropietro F, Ponzini D, Amato A, Pellegrini M, A new beta-chain haemoglobin variant with increased oxygen affinity: Hb Roma [beta115(g17)Ala-->Val]., Biochimica et biophysica acta, 1800(3), 327-35, 2010
Created on 2010-06-16 16:13:17, Last reviewed on 2019-11-13 17:26:07 (Show full history)

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