Table 1

Myosin heavy chain SNPsa

SNP (rs number)

Skeletal 2× sequence

Skeletal 2× residue if different

Gene

Isoform

Positionb

<Hetero>c (Homo-zygotes?) e

Countd


7-stranded β-sheet (Figure 2)

61745307

I88M

MYH13

super-fast

near β1

-

-

442275

E89Q

MYH6

α-cardiac

near β1

0.5(N)

525

61739660

H98Q

MYH1

near β1

-

-

2754166

D108E

E108

MYH7

β-cardiac

near β1

0(N)

525

7737765

H170Y

R170

MYO10

myosin X

β 4

-

-

61745058

D171E

E171

MYH7B

β-cardiac

β 4

-

-

61745059

N172D

MYH7B

β-cardiac

β 4

-

-

45516091

R240W

MYH7

β-cardiac

SW1

0(Y)

0f

28934610

R246H

MYO7A

myosin VIIA

SW1

-

-

3218713

R252Q (disease implicated)

MYH7

β-cardiac

β 6

0(Y)

525

55645295

I253V

MYH14

iso1/iso2

β 6

-

-

28936390

E257V

T257

MYO6

myosin VI

β6

-

-

34416201

T258K

MYH13

super-fast

β 67

2.5(N)

39

4299484

R445Q

MYH15

unknown

near β7

18.0(?)

1178

61731179

N447K

MYH6

α-cardiac

near β7

-

-

61745057

L463P

MYH7B

β-cardiac

β 5

-

-

4981473

E469Q

MYH7

β-cardiac

SW2

0(N)

525

28932773

R675Q (disease implicated)

MYH8

perinatal

β 3

-

-

11539755

E681K

MYOIE

myosin 1e

near β 3

-

-

Switch 2 helix (Figure 4)

61734198

Q478H

MYH11

sm1A/sm2B

SW2 hx

-

-

1064307

Y483H

F483

MYO9B

myosin IXB

SW2 hx

-

-

28934903

N485I

MYO7A

myosin VIIA

SW2 hx

-

-

61745301

H494D

MYH13

super-fast

SW2 hx

-

-

9868484

H495Y

MYH15

unknown

SW2 hx

38.3(Y)

1121

1052031

F497L

MYO7A

myosin VIIA

SW2 hx

-

-

3218715

E502K (disease implicated)

MYH7

β-cardiac

SW2 hx

0(Y)

525

3729813

K505N

MYH7

β-cardiac

SW2 hx

0(N)

525

SH2/SH1 hinge, converter, & lever-arm (Figure 3)

73974725

M688V

MYH1

SH2/SH1 hn

-

-

34515627

V694E

L694

MYO7A

myosin VIIA

SH2/SH1 hn

-

-

41298143

R695H

H695

MYO7A

myosin VIIA

SH2/SH1 hn

-

-

2190729

G701R

MYH13

super-fast

swivel

2.8(Y)

384

28940307

R707S

MYH14

iso1/iso2

SH2/SH1 hn

-

-

3181426

R710S

MYH7

β-cardiac

SH2/SH1 hn

-

-

35641839

V720I (disease implicated)

MYO7A

myosin VIIA

Converter

-

-

1136661

Y723C(disease imp)K723

MYO10

myosin X

Converter

-

-

3746442

P735S (disease implicated)

MYH7B

β-cardiac

Converter

g

525

26740

R743Q

K743

MYO10

myosin X

Converter

13.5(?)

1122

11847151

L785M

MYH6

α-cardiac

Lever-Arm

0(N)

525

36090425

D787N

Q787

MYO7A

myosin VIIA

Lever-Arm

-

-

3218716

A801T (disease implicated)

MYH7

β-cardiac

LA & ELC IQ

0(Y)

690

SH3 (Figure 5)

17092199

P31T

MYH7B

β-cardiac

SH3

discordant(?)h

1013

28711516

G57R

MYH6

α-cardiac

SH3

-(Y)

-

17707947

V60I

MYO10

myosin X

SH3

12.9(?)

1092

41309316

K68N

A68

MYH7B

β-cardiac

SH3

-

-

Actin binding (Figure 6)

45629132

R370H

K370

MYO7A

myosin VIIA

C-loop

-

-

35222064

Q371P

MYH13

super-fast

C-loop

2.5(N)

39

2515926

P378Q

MYH6

α-cardiac

C-loop

-

-

3218714

R406W (disease implicated)

MYH7

β-cardiac

Myopathy

0(Y)

525

45522831

R408C

K408

MYH7B

β-cardiac

Myopathy

-

-

35349985

F534L

MYH4

2b

actin bind

2.8(N)

39

59922029

R570K

K570

MYO10

myosin X

Loop 3

-

-

61735348

V572A/D

A572

MYH3

embryonic

Loop 3

-

-

28565077

A621V

MYH15

unknown

near Loop 2

-

-

61745053

T631N

E631

MYH7B

β-cardiac

Loop 2

-

-

34693726

A637V

G637

MYH8

perinatal

Loop 2

9.2(N)

310

2276282

E643K

K643

MYO7A

myosin VIIA

Loop 2

-

-

61743282

F655S

MYO7B

myosin VIIB

actin bind

-

-

N-term, U50, and L50

3729993

D4A

MYH7

β-cardiac

N-term

0(Y)

525

34042358

D4E

MYH13

super-fast

N-term

3.2(?)

62

45511396

R18C

MYH7

β-cardiac

N-term

0.4(Y)

0f

61730792

R24P/L

MYH1

N-term

-

-

41312286

T25M

I25

MYH7B

β-cardiac

N-term

-

-

590722

P(<32)Ti

-

MYH14

iso1/iso2

undefined

-

-

2404991

G(<48)Si

-

MYO7B

myosin VIIB

undefined

-

-

1052030

L(<58)Si

-

MYO7A

myosin VIIA

undefined

-

-

35218876

R(<64)Q

-

MYO9B

myosin IXB

undefined

2.5(?)

39

10518970

P(<82)Li

-

MYO9A

myosin IXA

undefined

4.3(?)

1224

17855105

R(<82)Ki

-

MYO9A

myosin IXA

undefined

-

-

2929516

T(<82)Ii

-

MYO9A

myosin IXA

undefined

discordant(?)h

1122

34773557

M142I

A142

MYH14

iso1/iso2

N-term

2.8(?)

70

6174305

R145G

G145

MYO10

myosin X

N-term

-

-

41298131

I148T

R148

MYO7A

myosin VIIA

N-term

-

-

58359270

L199F

I199

MYO9B

myosin IXB

N-term

-

-

28936391

H287R

MYO6

myosin VI

U50

-

-

6870170

E300D

L300

MYO10

myosin X

U50

1.3(?)

908

35512085

T307P

MYH4

2b

U50

-

-

34498817

P320A

E320

MYH14

iso1/iso2

U50

5.5(?)

309

35315400

S323C

V323

MYH14

iso1/iso2

U50

2.5(?)

78

34124921

I326T

MYH8

perinatal

U50

1.2(N)

39

35984286

Q329R (disease implicated)

MYH4

2b

U50

2.5(N)

39

34846075

V335I

T335

MYO10

myosin X

U50

2.5(?)

39

41298135

R336H

D336

MYO7A

myosin VIIA

U50

-

-

34419805

T345A

MYH8

perinatal

U50

2.8(N)

35

61756677

V350D/A

MYH2

2a

U50

-

-

11750538

R350W

V350

MYO10

myosin X

U50

50(?)

1264

1724577

E389D

Y389

MYH12

myosin V

U50

17.2(Y)

1262

61732664

Y(389-390)Hj

MYO6

myosin VI

U50

-

-

61742021

I514T (disease implicated)

MYO7B

myosin VIIB

L50

-

-

12949680

A594T

MYH4

2b

L50

7.4(N)

39


a Abbreviations SW1 or SW2 denote Switch 1 or 2, hx is helix, sb is salt-bridge, hn is hinge, and hyphen (-) is

no data submitted.

b Position names are defined in the MHC sequence as follows:

1. SH3 like β-barrel: AA30-80

2. 7-stranded β-sheet: β1 AA116-120; β2 121-127; β3 671-678; β4 170-180; β5 458-468; β6 248-257; β7 265-271

3. Loop 1 AA200-220

4. Upper 50 k (U50) AA220-468

5. C-loop AA363-377

6. Myopathy loop AA404-417

7. Switch 2 helix AA469-509

8. Lower 50 k (L50) AA469-620

9. Actin binding peptides: hydrophobic helical peptides AA529-560 and 652-661, Loop 2, Loop 3,

C--loop, Myopathy loop

10. Loop 3 actin binding site: AA568-580

11. Strut loop: AA600-604

12. Loop 2 AA626-651

13. SH2/SH1 hinge AA688-715

14. Converter domain: AA716-772

15. Lever-arm AA773-813

cAverage percentage of heterozygous genes (one allele normal, the other SNP substituted) in the standard subpopulations.

d Individuals sequenced.

e Are there SNP substituted homozygous genes (both alleles SNP substituted) in the standard sub-populations or

observed in screened individuals?

f Unexplained inconsistency.

g All individuals sequenced are homozygous in the SNP replacement over 4 population groups.

h Discordant genotype implies conflicting reports.

i Sequence segment not aligned in BLAST.

j Sequence segment SLEYCAE in myosin VI inserts between AA389 and 390 in MYH1. This is not Insert 1 or

2 mentioned in the text.

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

Open Data