IthaID: 782

Names and Sequences

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

Context nucleotide sequence:

Protein sequence:

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.


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


Chromosome: 16
Locus: NG_000006.1
Locus Location: 38270
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: Italian, Japanese, Chinese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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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 PubMed
  2. Qin WB, Yue XL, Qin LY, Jü TL, Wilson JB, Gu LH, Huisman TH, Two rare hemoglobin variants: Hb Pyrgos [beta 83(EF7)Gly-->Asp] and Hb Legnano [alpha 141(Hc3)Arg-->Leu] found in Inner Mongolia, P. R. China., Hemoglobin, 18(0), 343-5, 1994 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2021-04-07 12:59:13 (Show full history)

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