IthaID: 2315



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 110 GCC>GTC [Ala>Val] HGVS Name: HBA1:c.332C>T
Hb Name: Hb Montluel Protein Info: α1 110(G17) Ala>Val

Context nucleotide sequence:
AGCCACTGCCTGCTGGTGACCCTGG [C/T] CGCCCACCTCCCCGCCGAGTTCACC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLVAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as: Hb White Rose

Comments: Found in a 75-year-old French Caucasian male suffering from Waldenstrom disease presented with Hb 10 g/dL, MCV 94 fL, MCH 32.3 pg. HPLC analysis shown normal levels of Hb A2 2.5 %, Hb F 0.5 % and an abnormal peak of 14.5 %. Hb White Rose is the corresponding HBA1 or HBA2 variant (first report).

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: 38177
Size: 1 bp
Located at: α1
Specific Location: Exon 3

Other details

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

Sequence Viewer

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Publications / Origin

  1. Renoux C, Feray C, Joly P, Lacan P, Francina A, Description of Three New α Variants and Four New β Variants: Hb Montluel [α110(G17)Ala → Val; HBA1: c.332C > T], Hb Cap d'Agde [α131(H14)Ser → Cys; HBA2: c.395C > G] and Hb Corsica [α100(G7)Leu → Pro; HBA1: 302T > C]; Hb Nîmes [β104(G6)Arg → Gly; HBB: c.313A > G], Hb Saint Marcellin [β112(G14)Cys → Gly; HBB: c.337T > G], Hb Saint Chamond [β80(EF4)Asn → 0; HBB: c.241_243delAAC] and Hb Dompierre [β29(B11)Gly → Arg; HBB: c.88G > C]., Hemoglobin, 39(3), 147-51, 2015 PubMed
Created on 2014-01-10 13:59:52, Last reviewed on 2021-03-16 09:14:36 (Show full history)

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