From: Myosin individualized: single nucleotide polymorphisms in energy transduction
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 | 2× | 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 | Â | 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 6/β 7 | 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 | Â | MYH11 | sm1A/sm2B | SW2 hx | - | - |
1064307 | Y483H | F483 | MYO9B | myosin IXB | SW2 hx | - | - |
28934903 | N485I | Â | MYO7A | myosin VIIA | SW2 hx | - | - |
61745301 | H494D | Â | MYH13 | super-fast | SW2 hx | - | - |
9868484 | H495Y | Â | MYH15 | unknown | SW2 hx | 38.3(Y) | 1121 |
1052031 | F497L | Â | 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 | 2× | SH2/SH1 hn | - | - |
34515627 | V694E | L694 | MYO7A | myosin VIIA | SH2/SH1 hn | - | - |
41298143 | R695H | H695 | MYO7A | myosin VIIA | SH2/SH1 hn | - | - |
2190729 | G701R | Â | MYH13 | super-fast | swivel | 2.8(Y) | 384 |
28940307 | R707S | Â | MYH14 | iso1/iso2 | SH2/SH1 hn | - | - |
3181426 | R710S |  | MYH7 | β-cardiac | SH2/SH1 hn | - | - |
35641839 | V720I (disease implicated) | Â | MYO7A | myosin VIIA | Converter | - | - |
1136661 | Y723C(disease imp)K723 | Â | 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 | Â | 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 | Â | 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 | Â | 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 | Â | 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 | Â | MYO7B | myosin VIIB | actin bind | - | - |
N-term, U50, and L50 | |||||||
3729993 | D4A |  | MYH7 | β-cardiac | N-term | 0(Y) | 525 |
34042358 | D4E | Â | MYH13 | super-fast | N-term | 3.2(?) | 62 |
45511396 | R18C |  | MYH7 | β-cardiac | N-term | 0.4(Y) | 0f |
61730792 | R24P/L |  | MYH1 | 2× | 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 | Â | MYO6 | myosin VI | U50 | - | - |
6870170 | E300D | L300 | MYO10 | myosin X | U50 | 1.3(?) | 908 |
35512085 | T307P | Â | 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 | Â | MYH8 | perinatal | U50 | 1.2(N) | 39 |
35984286 | Q329R (disease implicated) | Â | 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 | Â | MYH8 | perinatal | U50 | 2.8(N) | 35 |
61756677 | V350D/A | Â | 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 | Â | MYO6 | myosin VI | U50 | - | - |
61742021 | I514T (disease implicated) | Â | MYO7B | myosin VIIB | L50 | - | - |
12949680 | A594T | Â | MYH4 | 2b | L50 | 7.4(N) | 39 |