IthaID: 707



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 111 GCC>GTC [Ala>Val] HGVS Name: HBA2:c.335C>T
Hb Name: Hb Anamosa Protein Info: α2 111(G18) Ala>Val

Context nucleotide sequence:
CACTGCCTGCTGGTGACCCTGGCCG [C/T] CCACCTCCCCGCCGAGTTCACCCCT (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAVHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34369
Size: 1 bp
Located at: α2
Specific Location: Exon 3

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Caucasian
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Kazanetz EG, Leonova JY, Wilson JB, McMillan SK, Walbrecht M, de Pablos Gallego JM, Huisman TH, Hb Anamosa or alpha 2(111)(G18)Ala-->Val beta 2 (alpha 2 mutation) and Hb Mulhacen or alpha 2(123)(H6)Ala-->Ser beta 2 (alpha 1 mutation) are two silent, stable variants detected by sequencing of amplified DNA., Hemoglobin , 19(1), 1-6, 1995 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2014-04-14 16:46:12 (Show full history)

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