IthaID: 685


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 95 CCG>CAG [Pro>Gln] HGVS Name: HBA1:c.287C>A
Hb Name: Hb Wichita Protein Info: α1 95(G2) Pro>Gln

Context nucleotide sequence:
CACGCGCACAAGCTTCGGGTGGACC [A/C/G/T] GGTCAACTTCAAGGTGAGCGGCGGG (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDQVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

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

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 37983
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: N/A
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Publications / Origin

  1. Hoyer JD, McCormick DJ, Snow K, Lawler J, Jadick M, Grageda R, Early JL, Ball C, Skarda P, Kubik KS, Holmes MW, Fairbanks VF, Three new variants of the alpha1-globin gene without clinical or hematologic effects: Hb Hagerstown [alpha44(CE2)Pro-->Ala (alpha1)]; Hb Buffalo [alpha89(FG1)His-->Gln (alpha1)], a hemoglobin variant from Somalia and Yemen; Hb Wichita [alpha95(G2)Pro-->Gln (alpha1)]; and a second, unrelated, case of Hb Roubaix [alpha55(E4)Val-->Leu (alpha1)]., Hemoglobin , 26(3), 291-8, 2002
Created on 2010-06-16 16:13:16, Last reviewed on 2014-04-14 15:35:49 (Show full history)

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