“Mutation”, Victor McKusick, Mendelian Inheritance in Man, 1966.

Here I present: “Mutation”, Victor McKusick, Mendelian Inheritance in Man’, 1966.

INTRODUCTION.

The human chromosomal DNA vary in length from 248,956,422 (chromosome #1) to 46,709,983 (chromosome #21) bp (base pairs).  The lengths of each chromosome is shown ATOP.

The Genetic Code shown ABOVE is what is used to define  “mutation”, that is a “mutation” is an error in biological sequence.

 

The list of encoded amino acids is given BELOW.  The biological sequence of amino acids is primary structure (linear), but mutation sequences have secondary & ternary structure (spatial, nonlinear).  Molecular structure is what Victor McKusick, Mendelian Inheritance in Man’, 1966 is about, and my blog posts are about this book.

		Amino Acid	Side Group
A	Ala	Alanine	CH3
B	*
C	Cys	Cysteine	CH2SH
D	Asp	Aspartate	CH2COOH
E	Glu	Glutamate	CH2CH2COOH
F	Phe	Phenylalanine	CH2C6H5
G	Gly	Glycine	H
H	His	Histidine	CH2-C3H3N2
I	Ile	Isoleucine	CH(CH3)CH2CH3
J	*
K	Lys	Lysine	(CH2)4NH2
L	Leu	Leucine	CH2CH(CH3)2
M	Met	Methionine	CH2CH2SCH3
N	Asn	Asparagine	CH2CONH2
O	Pyl	Pyrolysine	(CH2)4NHCOC4H5NCH3
P	Pro	Proline	CH2CH2CH2-
Q	Gln	Glutamine	CH2CH2CONH2
R	Arg	Arginine	(CH2)3NH-C(NH)NH2
S	Ser	Serine	CH2OH
T	Thr	Threonine	CH(OH)CH3
U	Sec	Selenocysteine	CH2SeH
V	Val	Valine	CH(CH3)2
W	Trp	Tryptophan	CH2C8H6N
X	*
Y	Try	Tyrosine	CH2-C6H4OH
Z	*