Genetic variants and impacts

The FMO3 gene consists of nine exons, with the initial exon being non-coding. It encodes a polypeptide composed of 532 amino acid residues, and having a molecular mass of 60,047.

Comprehensive Table of Amino Acids: Properties and Characteristics

1 Letter code	3 Letter code	Amino-acid name	DNA Codons	Essential or Not	Properties
A	Ala	Alanine	GCT, GCC, GCA, GCG	Non-essential	Neutral, Nonpolar
C	Cys	Cysteine	TGT, TGC	Non-essential	Neutral, Polar
D	Asp	Aspartic Acid	GAT, GAC	Non-essential	Acidic
E	Glu	Glutamic Acid	GAA, GAG	Non-essential	Acidic
F	Phe	Phenylalanine	TTT, TTC	Essential	Aromatic
G	Gly	Glycine	GGT, GGC, GGA, GGG	Non-essential	Neutral, Nonpolar
H	His	Histidine	CAT, CAC	Essential	Basic, Aromatic
I	Ile	Isoleucine	ATT, ATC, ATA	Essential	Neutral, Nonpolar
K	Lys	Lysine	AAA, AAG	Essential	Basic
L	Leu	Leucine	TTA, TTG, CTT, CTC, CTA, CTG	Essential	Neutral, Nonpolar
M	Met	Methionine	ATG	Essential	Neutral, Nonpolar
N	Asn	Asparagine	AAT, AAC	Non-essential	Neutral, Polar
P	Pro	Proline	CCT, CCC, CCA, CCG	Non-essential	Neutral, Nonpolar
Q	Gln	Glutamine	CAA, CAG	Non-essential	Neutral, Polar
R	Arg	Arginine	CGT, CGC, CGA, CGG, AGA, AGG	Essential	Basic
S	Ser	Serine	TCT, TCC, TCA, TCG, AGT, AGC	Non-essential	Neutral, Polar
T	Thr	Threonine	ACT, ACC, ACA, ACG	Essential	Neutral, Polar
V	Val	Valine	GTT, GTC, GTA, GTG	Essential	Neutral, Nonpolar
W	Trp	Tryptophan	TGG	Essential	Aromatic
Y	Tyr	Tyrosine	TAT, TAC	Essential	Aromatic

Deciphering Genetic Mutations: Understanding Notation and Its Impact on Protein Structure

Understanding genetic mutations and their effects on protein structure is crucial in molecular biology. The notation used to describe these mutations provides a standardized language for researchers and clinicians to communicate effectively.

For instance, the notation "c.1322T>C" denotes a specific change in the DNA sequence, where a thymine (T) is replaced by a cytosine (C) at position 1322. This alteration at the DNA level leads to changes in the corresponding amino acid sequence of the protein. For example, "p.(Ile441Thr)" or "I441T" indicates that isoleucine (Ile) at position 441 is replaced by threonine (Thr).

This concise notation facilitates accurate representation and interpretation of genetic variations, enhancing our understanding of their implications for protein function and disease.

Last updated : March 2024