IthaID: 762


Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 135 GTG>CTG [Val>Met] HGVS Name: HBA1:c.406G>A
Hb Name: Hb Trenton Protein Info: α1 135(H18) Val>Met

Context nucleotide sequence:
CAAGTTCCTGGCTTCTGTGAGCACC [A/G] TGCTGACCTCCAAATACCGTTAAGC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTMLTSKYR

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 38251
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: Caucasian, African
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Publications / Origin

To the best of our knowledge, this is unpublished data. Please use with caution!

Created on 2010-06-16 16:13:16, Last reviewed on 2014-04-15 12:10:18 (Show full history)

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