IthaID: 777



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 140 TAC>TAA HGVS Name: HBA2:c.423C>A
Hb Name: Hb Natal Protein Info: α2 140(HC2) Tyr-Arg->0

Context nucleotide sequence:
TGAGCACCGTGCTGACCTCCAAATA [A/C] CGTTAAGCTGGAGCCTCGGTAGCCG (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKXR

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34457
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: Increased Oxygen Affinity
Associated Phenotypes: N/A

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Nonsense codon (Translation)
Ethnic Origin: Indian
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Jogessar VB, Westermeyer K, Webber BB, Wilson JB, Hu H, Gonzalez-Redondo JM, Kutlar A, Huisman TH, Hb natal or alpha 2(minus Tyr-Arg) beta 2: a high oxygen affinity alpha chain variant with a deleted carboxy-terminus resulting from a TAC----TAA (Tyr----terminating codon) mutation in codon alpha 140., Biochim. Biophys. Acta , 951(1), 36-41, 1988 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2014-04-15 12:57:17 (Show full history)

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