Genetic code and amino acids 13/10/22

Question 1

What nomenclature is used to indicate the sequence?

Answer 1

Genomic DNA - g.
cDNA - c.
Mitochondrial DNA - m.
RNA - r.
Protein - p.

Question 2

What nomenclature is used to indicate codes?

Answer 2

Range - _
More change in one allele - ;
More transcripts/mosaicism - ,
Uncertain - ()
Allele - []
Stop codon - X
Opposite strand - o
3’ UTR - * (number afterwards indicates how far downstream from the stop codon)

Question 3

What nomenclature is used to indicate mutations?

Answer 3

Substitution - >
Deletion - del
Duplication - dup
Insertion - inser
Inversion - inver
Conversion - con
Extension - ext
Frameshift - fs
Translocation - t

Question 4

What are the 20 amino acids and their abbreviation?

Answer 4

Alanine (Ala)
Glycine (Gly)
Isoleucine (IIe)
Phenylalanine (Phe)
Tryptophan (Trp)
Tyrosine (Tyr)
Aspartic acid (Asp)
Lysine (Lys)
Serine (Ser)
Threonine (Thr)
Cysteine (Cys)
Leucine (Leu)
Glutamic acid (Glu)
Methionine (Met)
Proline (Pro)
Arginine (Arg)
Asparagine (Asn)
Valine (Val)
Histidine (His)
Glutamine (Gln)

Question 5

Example of nomenclature?

Answer 5

Homozygous NM_000520.6(HEXA):c.1275_1278dup (p.Tyr427fs)

NM_000520.6 is the reference sequence
(HEXA) is the gene name
c. means cDNA
1275_1278 is the range of bases the mutation spans (4bp)
dup means duplication
p. means protein
Tyr427fs means tyrosine at point 427 is a frameshift mutation