IthaID: 3381


Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 67 ACC>ATC [Thr>Ile] HGVS Name: HBA2:c.203C>T
Hb Name: Hb Sichuan Protein Info: α2 67(E16) Thr>Ile

Context nucleotide sequence:
CAAGAAGGTGGCCGACGCGCTGA [C>T] CAACGCCGTGGCGCACGTGGACGACAT (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALINAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

Comments: Found in a heterozygous state.

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34095
Size: 1 bp
Located at: α2
Specific Location: Exon 2

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: Chinese
Inheritance: Recessive
DNA Sequence Determined: Yes

Publications / Origin

  1. Xu AP, Chen WD, Li J, Zhou Y, Zheng RY, Li X, Ji L, Hb Sichuan [α67(E16)Thr→Ile, HBA2: c.203C>T]: A Novel Hemoglobin Variant That Can Be Detected by Glycated Hemoglobin Electrophoresis., Hemoglobin, 42(0), 330-332, 2018
Created on 2019-04-08 10:57:08, Last reviewed on 2019-04-08 15:29:27 (Show full history)

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