IthaID: 666


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 91 CTT>CCT [Leu>Pro] HGVS Name: HBA2:c.275T>C
Hb Name: Hb Port Phillip Protein Info: α2 91(FG3) Leu>Pro

Context nucleotide sequence:
CTGAGCGACCTGCACGCGCACAAGC [T/C] TCGGGTGGACCCGGTCAACTTCAAG (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKPRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
Stability: Unstable
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34167
Size: 1 bp
Located at: α2
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Chinese
Molecular mechanism: Altered secondary structure
Inheritance: Recessive
DNA Sequence Determined: Yes

Publications / Origin

  1. Brennan SO, Tauro GP, Melrose W, Haemoglobin Port Phillip alpha91 (FG3) Leu replaced by Pro, a new unstable haemoglobin., FEBS Lett. , 81(1), 115-7, 1977
  2. Du L, Bao X, Qin D, Wang J, Yao C, Liang J, Chen J, Yin A, Compounded with hemoglobin Port Phillip and -α4.2 or --SEA deletions were identified in Chinese population., Mol Genet Genomic Med, 9(9), e1699, 2021
Created on 2010-06-16 16:13:16, Last reviewed on 2021-10-14 11:46:31 (Show full history)

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