IthaID: 2999



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 35 TCC>TTC [Ser>Phe] HGVS Name: HBA2:c.107C>T
Hb Name: Hb Colorado Protein Info: α2 35(B16) Ser>Phe

Context nucleotide sequence:
GCTTCTCCCCGCAGGATGTTCCTGT [C>T] CTTCCCCACCACCAAGACCTACTTC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLFFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Comments: Found as a heterygote in a 19-month-old male of Hispanic/Latino descent with an abnormal newborn screen. Studies revealed an unstable alpha hemoglobin variant with very low protein expression.

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 33999
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: Unstable
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:  Hispanic/Latino
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To the best of our knowledge, this is unpublished data.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 2016-08-24 09:44:05, Last reviewed on 2016-08-25 10:06:42 (Show full history)

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