IthaID: 3445



Names and Sequences

Functionality: Neutral polymorphism
Common Name: IVS I-13 G>T HGVS Name: HBB:c.92+13G>T

Context nucleotide sequence:
GCCCTGGGCAGGTTGGTATCAAG [G/T] TTACAAGACAGGTTTAAGGAGAC (Strand: -)

Also known as:

Comments: This mutation is an innocuous SNP associated with a well-characterised cryptic splice donor site in HBB. The cryptic splice donor is activated by mutations IthaID 101, 102, 103, 107 and 111, leading to aberrant splicing, inclusion of intronic material in the HBB mRNA and beta-thalassaemia. Mutations IthaID 107 and 111 retain residual normal splicing activity, and in their presence this SNP may thus conceivably increase normal splicing and ameliorate the associated phenotype.

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70699
Size: 1 bp
Located at: β
Specific Location: Intron 1

Phenotype

Allele Phenotype:Neutral
Associated Phenotypes: N/A

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: N/A
Inheritance: N/A
DNA Sequence Determined: No

Sequence Viewer

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Publications / Origin

  1. Treisman R, Orkin SH, Maniatis T, Specific transcription and RNA splicing defects in five cloned beta-thalassaemia genes., Nature, 302(5909), 591-6, 1983 PubMed
Created on 2019-09-23 12:41:56, Last reviewed on (Show full history)

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