IthaID: 752


Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 131 TCT>TTT HGVS Name: HBA1:c.395C>T
Hb Name: Hb Lusaka Protein Info: α1 131(H14) Ser>Phe

Context nucleotide sequence:
GCCTCCCTGGACAAGTTCCTGGCTT [C/T] TGTGAGCACCGTGCTGACCTCCAAA (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLAFVSTVLTSKYR

Also known as:

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 38240
Size: 1 bp
Located at: α1
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: Zambian
Inheritance: Recessive
DNA Sequence Determined: No

Publications / Origin

  1. Brennan SO, Chan T, Sheen C, Rae L, Hb Lusaka [alpha131(H14)Ser-->phe (alpha1)]: a new variant found in a woman heterozygous for Hb S [beta6(A3)G1u-->Val]., Hemoglobin , 27(3), 177-80, 2003
Created on 2010-06-16 16:13:16, Last reviewed on 2014-04-15 11:04:43 (Show full history)

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