IthaID: 782


Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 141 CGT>CTT [Arg>Leu] HGVS Name: HBA1:c.425G>T | HBA2:c.425G>T
Hb Name: Hb Legnano Protein Info: α2 or α1 141(HC3) Arg>Leu

Context nucleotide sequence:
AGCACCGTGCTGACCTCCAAATACC [A/C/G/T] TTAAGCTGGAGCCTCGGTAGCCGTT (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYL

Also known as:

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34459 or 38270
Size: 1 bp or 1 bp
Located at: α1 or α2
Specific Location: Exon 3

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
Stability: Unstable
Oxygen Affinity: Increased Oxygen Affinity
Associated Phenotypes: N/A

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Italian, Japanese
Inheritance: Recessive
DNA Sequence Determined: No

Publications / Origin

  1. Mavilio F, Marinucci M, Tentori L, Fontanarosa PP, Rossi U, Biagiotti S, Hemoglobin Legnano (alpha2 141 (HC3) Arg replaced by Leu beta2): a new abnormal human hemoglobin with high oxygen affinity., Hemoglobin , 2(3), 249-59, 1978
Created on 2010-06-16 16:13:16, Last reviewed on 2014-04-15 15:31:34 (Show full history)

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