IthaID: 1155

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 103 TTC>GTC HGVS Name: HBB:c.310T>G
Hb Name: Hb Sparta Protein Info: β 103(G5) Phe>Val

Context nucleotide sequence:

Protein sequence:

External Links


Chromosome: 11
Locus: NG_000007.3
Locus Location: 71034
Size: 1 bp
Located at: β
Specific Location: Exon 2


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-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: N/A
Ethnic Origin: Caucasian
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Hoyer JD, Weinhold J, Mailhot E, Alter D, McCormick DJ, Snow K, Kubik KS, Holmes MW, Fairbanks VF, Three new hemoglobin variants with abnormal oxygen affinity: Hb Saratoga Springs [alpha40(C5)Lys --> Asn (alpha1)], Hb Santa Clara [beta97(FG4)His --> Asn], and Hb Sparta [beta103(G5)Phe --> Val]., Hemoglobin, 27(4), 235-41, 2003 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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