Mutation Details for c.4111G>T
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cDNA Name
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c.4111G>T
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Protein Name
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p.Glu1371X
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Exon or Intron
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exon 25
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Legacy Exon or Intron
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exon 22
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E1371X
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Other Details
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This mutation is associated with the A XV2c/KM19 haplotype and was found on one of 25 Caucasian chromosomes. PCR amplification of exon 22 is preformed using exon primer 22e-5'5'GTTGGGCTCAGATCTGTG3' amd intron primer 22i-3'5'CACCATGAAGCAGGCATAA'3'. The intron primer is approximately 70 nucleotides from the 3'spice site of exon 22. Amplification of genomic DNA with these primers produces a fragment of 242 basepairs. The mutation E1271Stop creates an MseI site in exon 22. Digestion of normal exon 22 DNA with MseI results in fragments of 45 and 197 bp while digestion of exon 22 DNA containing this mutation creates fragments of 45, 50 and 147 basepairs.
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Contributors
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Cutting GR
1990-04-27
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Institute
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Johns Hopkins University
Baltimore, MD, USA
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Submitted Phenotype Details
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Reference
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Cutting et al. 1992
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To check if there are any papers published about this mutation/variant on PubMed, please click here.
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