Myosin individualized: single nucleotide polymorphisms in energy transduction

BMC Genomics

Table 2 SNPs for smooth muscle myosin MYH11

ID of SNP Cluster	Gene	Function	Base Change	Amino Acid Change	Peptide Sequence# ^a
rs61734198 ^b	MYH11	missense	G -->C	Q -->H	473
	MYH11	missense	G -->T	Q -->H	473
	MYH11	missense	G -->C	Q -->H	480
	MYH11	missense	G -->T	Q -->H	480
rs16967494	MYH11	missense	G -->A	A -->T	1234
	MYH11	missense	G -->A	A -->T	1241
rs16967494	MYH11	missense	G -->A	A -->T	1234
	MYH11	missense	G -->A	A -->T	1241
rs35176378	MYH11	missense	A -->G	M -->V	1508
	MYH11	missense	A -->G	M -->V	1515
rs35035518	MYH11	missense	C -->T	S -->L	883
	MYH11	missense	C -->T	S -->L	890
rs34321232	MYH11	missense	A -->C	K -->Q	1621
	MYH11	missense	A -->C	K -->Q	1628
rs34263860	MYH11	missense	G -->A	A -->T	1104
	MYH11	missense	G -->A	A -->T	1111
rs16967510	MYH11	missense	T -->C	V -->A	1289
	MYH11	missense	T -->C	V -->A	1296
rs16967494	MYH11	missense	G -->A	A -->T	1234
	MYH11	missense	G -->A	A -->T	1241
rs12149651	MYH11	missense	C -->A	L -->M	1053
	MYH11	missense	C -->A	L -->M	1060
rs7196804	MYH11	missense	G -->A	V -->M	1310
	MYH11	missense	G -->A	V -->M	1317
rs1801902	MYH11	missense	A -->G	T -->A	864
	MYH11	missense	A -->G	T -->A	871

^aSNPs corresponding to amino acid residues in the tail portion of myosin appear in the output for the automated SNP retrieval program but lie outside the motor domain of myosin and are not discussed in the text.
^bSNP rs61734198 is an example of a two base change (G→C and G→T) SNP where His substitutes for Gln in both cases. The MYH11 gene product includes splicing variants with different sequences hence the same SNP has two sequence numbers in the variants that are in this case sm1A (AA473) and sm2B (AA480).

ISSN: 1471-2164