---
OA_type: closed access
_id: '18223'
abstract:
- lang: eng
  text: The term silent mutation is commonly used to describe (1) a change in the
    DNA sequence that does not result in an observable effect on the organism’s phenotype;
    and (2) a synonymous mutation where the nucleotide change leaves the translated
    amino acid sequence unchanged. When Christian Anfinsen showed that a folded and
    active protein could be denatured to lose structure and activity and then subsequently
    renatured to regain the same structure and activity it appeared that the native,
    thermodynamically stable, structure of a protein depends only on the amino acid
    sequence and solution conditions (Anfinsen and Haber 1961). This experiment suggested
    that, once translated, proteins carry no memory of the genetic sequence and led
    to one of the most erroneous assumptions in modern science; synonymous codons
    were long considered silent, a mutation of the type that has no effect on an organism’s
    phenotype.
article_processing_charge: No
author:
- first_name: Aviv A.
  full_name: Rosenberg, Aviv A.
  last_name: Rosenberg
- first_name: Alexander
  full_name: Bronstein, Alexander
  id: 58f3726e-7cba-11ef-ad8b-e6e8cb3904e6
  last_name: Bronstein
  orcid: 0000-0001-9699-8730
- first_name: Ailie
  full_name: Marx, Ailie
  last_name: Marx
citation:
  ama: 'Rosenberg AA, Bronstein AM, Marx A. Recording Silence – Accurate Annotation
    of the Genetic Sequence Is Required to Better Understand How Synonymous Coding
    Affects Protein Structure and Disease. In: Sauna ZE, Kimchi-Sarfaty C, eds. <i>Single
    Nucleotide Polymorphisms</i>. Cham: Springer Nature; 2022:37-47. doi:<a href="https://doi.org/10.1007/978-3-031-05616-1_3">10.1007/978-3-031-05616-1_3</a>'
  apa: 'Rosenberg, A. A., Bronstein, A. M., &#38; Marx, A. (2022). Recording Silence
    – Accurate Annotation of the Genetic Sequence Is Required to Better Understand
    How Synonymous Coding Affects Protein Structure and Disease. In Z. E. Sauna &#38;
    C. Kimchi-Sarfaty (Eds.), <i>Single Nucleotide Polymorphisms</i> (pp. 37–47).
    Cham: Springer Nature. <a href="https://doi.org/10.1007/978-3-031-05616-1_3">https://doi.org/10.1007/978-3-031-05616-1_3</a>'
  chicago: 'Rosenberg, Aviv A., Alex M. Bronstein, and Ailie Marx. “Recording Silence
    – Accurate Annotation of the Genetic Sequence Is Required to Better Understand
    How Synonymous Coding Affects Protein Structure and Disease.” In <i>Single Nucleotide
    Polymorphisms</i>, edited by Zuben E. Sauna and Chava Kimchi-Sarfaty, 37–47. Cham:
    Springer Nature, 2022. <a href="https://doi.org/10.1007/978-3-031-05616-1_3">https://doi.org/10.1007/978-3-031-05616-1_3</a>.'
  ieee: 'A. A. Rosenberg, A. M. Bronstein, and A. Marx, “Recording Silence – Accurate
    Annotation of the Genetic Sequence Is Required to Better Understand How Synonymous
    Coding Affects Protein Structure and Disease,” in <i>Single Nucleotide Polymorphisms</i>,
    Z. E. Sauna and C. Kimchi-Sarfaty, Eds. Cham: Springer Nature, 2022, pp. 37–47.'
  ista: 'Rosenberg AA, Bronstein AM, Marx A. 2022.Recording Silence – Accurate Annotation
    of the Genetic Sequence Is Required to Better Understand How Synonymous Coding
    Affects Protein Structure and Disease. In: Single Nucleotide Polymorphisms. ,
    37–47.'
  mla: Rosenberg, Aviv A., et al. “Recording Silence – Accurate Annotation of the
    Genetic Sequence Is Required to Better Understand How Synonymous Coding Affects
    Protein Structure and Disease.” <i>Single Nucleotide Polymorphisms</i>, edited
    by Zuben E. Sauna and Chava Kimchi-Sarfaty, Springer Nature, 2022, pp. 37–47,
    doi:<a href="https://doi.org/10.1007/978-3-031-05616-1_3">10.1007/978-3-031-05616-1_3</a>.
  short: A.A. Rosenberg, A.M. Bronstein, A. Marx, in:, Z.E. Sauna, C. Kimchi-Sarfaty
    (Eds.), Single Nucleotide Polymorphisms, Springer Nature, Cham, 2022, pp. 37–47.
date_created: 2024-10-08T12:53:44Z
date_published: 2022-08-10T00:00:00Z
date_updated: 2024-10-14T09:58:21Z
day: '10'
doi: 10.1007/978-3-031-05616-1_3
editor:
- first_name: Zuben E.
  full_name: Sauna, Zuben E.
  last_name: Sauna
- first_name: Chava
  full_name: Kimchi-Sarfaty, Chava
  last_name: Kimchi-Sarfaty
extern: '1'
fulldoi: https://doi.org/10.1007/978-3-031-05616-1_3
language:
- iso: eng
month: '08'
oa_version: None
page: 37-47
place: Cham
publication: Single Nucleotide Polymorphisms
publication_identifier:
  eisbn:
  - '9783031056161'
  isbn:
  - '9783031056147'
publication_status: published
publisher: Springer Nature
quality_controlled: '1'
scopus_import: '1'
status: public
title: Recording Silence – Accurate Annotation of the Genetic Sequence Is Required
  to Better Understand How Synonymous Coding Affects Protein Structure and Disease
type: book_chapter
user_id: 2DF688A6-F248-11E8-B48F-1D18A9856A87
year: '2022'
...