The chromosomal sequences of two mutant alleles of gene A from patients with the zero subtype include the following mutation: 496G>A. Briefly discuss why this mutant fails to produce a functional protein. Note that none of the mRNA transcribed from this gene is of the expected size; some of the mRNA molecules produced are 223 nucleotides shorter than expected whilst others are 47 nucleotides longer than expected. The mutation on position 496 is highlighted in yellow, this will become A instead of G. However, it is the start of an intron, therefore the mutation won't affect the protein. but the question implies that the mutation will affect the protein.
The chromosomal sequences of two mutant alleles of gene A from patients with the zero subtype include the following mutation: 496G>A. Briefly discuss why this mutant fails to produce a functional protein. Note that none of the mRNA transcribed from this gene is of the expected size; some of the mRNA molecules produced are 223 nucleotides shorter than expected whilst others are 47 nucleotides longer than expected. The mutation on position 496 is highlighted in yellow, this will become A instead of G. However, it is the start of an intron, therefore the mutation won't affect the protein. but the question implies that the mutation will affect the protein.
Medical Terminology for Health Professions, Spiral bound Version (MindTap Course List)
8th Edition
ISBN:9781305634350
Author:Ann Ehrlich, Carol L. Schroeder, Laura Ehrlich, Katrina A. Schroeder
Publisher:Ann Ehrlich, Carol L. Schroeder, Laura Ehrlich, Katrina A. Schroeder
Chapter5: The Cardiovascular Sytem
Section: Chapter Questions
Problem 93LE
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Question
The chromosomal sequences of two mutant alleles of gene A from patients with the zero subtype include the following mutation: 496G>A. Briefly discuss why this mutant fails to produce a functional protein. Note that none of the mRNA transcribed from this gene is of the expected size; some of the mRNA molecules produced are 223
The mutation on position 496 is highlighted in yellow, this will become A instead of G. However, it is the start of an intron, therefore the mutation won't affect the protein. but the question implies that the mutation will affect the protein.
Transcribed Image Text:GGTTCTTTGAGTCCTTTGGGGATCTGTCCACTCCTGATGCTGTTATGGGCAACCCTAAGGTGAAGGCTCATGGCA
KK V LG A FS D G L A H L DN L K G T F A TL S
AGAAAGTGCTCGGTGCCTTTAGTGATGGCCTGGCTCACCTGGACAACCTCAAGGGCACCTTTGCCACACTGAGTG
E L H CD K LH V D P EN FR
AGCTGCACTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAGGgtgagtctatgggacgcttgatgttttctttccccttcttttc
tatggttaagttcatgtcataggaaggggataagtaacagggtacagtttagaatgggaaacagacgaatgattgcatcagtgtgga
agtctcaggatcgttttagtttcttttatttgctgttcataacaattgttttcttttgtttaattcttgctttctttttttttcttc
tccgcaatttttactattatacttaatgccttaacattgtgtataacaaaaggaaatatctctgagatacattaagtaacttaaaaa
aaaactttacacagtctgcctagtacattactatttggaatatatgtgtgcttatttgcatattcataatctccctactttattttc
ttttatttttaattgatacataatcattatacatatttatgggttaaagtgtaatgttttaatat gtgtacacatattgaccaaatc
agggtaattttgcatttgtaattttaaaaaatgctttcttcttttaatatacttttttgtttatcttatttctaatactttccctaa
tctctttctttcagggcaataatgatacaatgtatcatgcctctttgcaccattctaaagaataacagtgataatttctgggttaag
gcaatagcaatatctctgcatataaatatttctgcatataaattgtaactgatgtaagaggtttcatattgctaatagcagctacaa
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