Table 2

SNPs for smooth muscle myosin MYH11

ID of SNP Cluster

Gene

Function

Base Change

Amino Acid Change

Peptide Sequence#a


rs61734198b

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).

Burghardt et al. BMC Genomics 2010 11:172   doi:10.1186/1471-2164-11-172

Open Data