IthaID: 2968



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 36 TTC>TAC [ Phe>Tyr] HGVS Name: HBA1:c.110T>A
Hb Name: Hb Kempten Protein Info: α1 36(C1) Phe>Tyr

Context nucleotide sequence:
CCCCGCAGGATGTTCCTGTCCT [T>A] CCCCACCACCAAGACCTACTTCCCGCAC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSYPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Comments: Found as a heterozygote. Oxygen affinity has not been verified experimentally but the haematologic parameters of the proband were suggestive of a Hb variant with a high oxygen affinity.

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 37806
Size: 1 bp
Located at: α1
Specific Location: Exon 2

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: Missense codons (Protein Structure)
Ethnic Origin: Italian 
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

To the best of our knowledge, this is unpublished data.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

Created on 2016-08-23 15:26:36, Last reviewed on 2016-08-24 15:32:19 (Show full history)

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