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Basic Information

SAV Position Domain position
RS Q(SASA) Source Structural position

Pathogenicity / Stability Predictions

AlphaMissense (IC) AlphaMissense (N2AB)
CADD Condel DUET FATHMM M-CAP
mCSM MetaLR MetaSVM MPC MutationAssessor
MutationTaster MutPred MVP PolyPhen-2
PrimateAI PROVEAN REVEL Rhapsody SIFT

Disease Associations

Disease Zygosity Comments

Population Frequencies

Whole Population MAF African (AFR) Latin American (AMR)
Amish (AMS) Ashkenazi Jewish (ASJ) East Asian (EAS)
European/1KGP (EUR) Finnish (FIN) Middle Eastern (MDE)
Non-Finnish European (NFE) South Asian (SAS) Other (OTH)

Other Annotations

Site Annotation Predicted PPI site mCSM-PPI

10 20 30 40 50 60 70 80 90
K F V K E I K D I I L T E S E F V G S S A I F E C L V S P S T A I T T W M K D G S N I R E S P K H R F I A D G K D R K L H I I D V Q L S D A G E Y T C V L R L G N K E K T S T A K L V V E E L P V R F V K T L E E E V T V V K G Q P L Y L S C E L N K E R D V V W R K D G K I V V E K P G R I V P G V I G L M R A L T I N D A D D T D A G T Y T V T V E N A N N L E C S S C V K V V
K F V K E I K D I I L T E S E F V G S S A I F E C L V S P S T A I T T W M K D G S N I R E S P K H R F I A D G K D R K L H I I D V Q L S D A G E Y T C V L R L G N K E K T S T A K L - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - V V

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
13685 2 F/S 3 None 0.1521 None gnomAD-4.0.0 1.20032E-06
13688 5 E/G 7 rs2060476554 0.5021 None gnomAD-4.0.0 1.59222E-06
13688 5 E/K 7 None 0.5021 None gnomAD-4.0.0 6.84396E-07
13689 6 I/F 8 rs1316196026 0.1219 None gnomAD-2.1.1 4.03E-06
13689 6 I/F 8 rs1316196026 0.1219 None gnomAD-4.0.0 1.16346E-05
13690 7 K/R 9 None 0.8030 None gnomAD-4.0.0 1.36878E-06
13691 8 D/G 11 None 0.5394 None gnomAD-4.0.0 1.59225E-06
13692 9 I/T 13 None 0.1790 None gnomAD-4.0.0 1.20032E-06
13693 10 I/S 14 None 0.5955 None gnomAD-4.0.0 1.59222E-06
13693 10 I/V 14 None 0.5955 None gnomAD-4.0.0 6.36894E-06
13694 11 L/F 16 None 0.1989 None gnomAD-4.0.0 1.59223E-06
13694 11 L/S 16 None 0.1989 None gnomAD-4.0.0 1.5922E-06
13695 12 T/R 18 None 0.3247 None gnomAD-4.0.0 1.59221E-06
13698 15 E/Q 21 rs1216328116 0.3812 None gnomAD-2.1.1 4.03E-06
13698 15 E/Q 21 rs1216328116 0.3812 None gnomAD-4.0.0 1.59219E-06
13699 16 F/I 22 None 0.1621 None gnomAD-4.0.0 1.20032E-06
13699 16 F/L 22 None 0.1621 None gnomAD-4.0.0 1.36874E-06
13699 16 F/S 22 None 0.1621 None gnomAD-4.0.0 1.36872E-06
13700 17 V/A 23 rs1438452689 0.7011 None gnomAD-2.1.1 8.05E-06
13700 17 V/A 23 rs1438452689 0.7011 None gnomAD-3.1.2 3.29E-05
13700 17 V/A 23 rs1438452689 0.7011 None gnomAD-4.0.0 7.43819E-06
13700 17 V/I 23 rs748716483 0.7011 None gnomAD-2.1.1 1.79E-05
13700 17 V/I 23 rs748716483 0.7011 None gnomAD-3.1.2 6.58E-06
13700 17 V/I 23 rs748716483 0.7011 None gnomAD-4.0.0 9.29791E-06
13700 17 V/L 23 None 0.7011 None gnomAD-4.0.0 3.42182E-06
13701 18 G/A 24 None 0.4076 None gnomAD-4.0.0 1.5921E-06
13702 19 S/P 25 rs72650078 0.2739 None gnomAD-3.1.2 6.58E-06
13702 19 S/P 25 rs72650078 0.2739 DCM
Literature None
13702 19 S/P 25 rs72650078 0.2739 None gnomAD-4.0.0 6.40861E-06
13704 21 A/T 28 rs1259815299 0.1417 None gnomAD-2.1.1 3.19E-05
13704 21 A/T 28 rs1259815299 0.1417 None gnomAD-3.1.2 1.32E-05
13704 21 A/T 28 rs1259815299 0.1417 None gnomAD-4.0.0 3.71907E-06
13705 22 I/F 29 None 0.3683 None gnomAD-4.0.0 6.84351E-07
13705 22 I/T 29 None 0.3683 None gnomAD-4.0.0 1.20032E-06
13705 22 I/V 29 rs769704113 0.3683 None gnomAD-2.1.1 1.21E-05
13705 22 I/V 29 rs769704113 0.3683 None gnomAD-4.0.0 4.79046E-06
13706 23 F/L 30 rs748084644 0.0944 None gnomAD-2.1.1 4.03E-06
13706 23 F/L 30 rs748084644 0.0944 None gnomAD-4.0.0 1.59207E-06
13707 24 E/G 31 None 0.3840 None gnomAD-4.0.0 2.05305E-06
13707 24 E/Q 31 rs1173154586 0.3840 None gnomAD-2.1.1 4.03E-06
13708 25 C/W 33 rs794729424 0.0862 None gnomAD-4.0.0 1.3687E-06
13708 25 C/Y 33 None 0.0862 None gnomAD-4.0.0 1.59205E-06
13710 27 V/I 35 rs1429685157 0.0979 None gnomAD-2.1.1 4.03E-06
13710 27 V/I 35 rs1429685157 0.0979 None gnomAD-4.0.0 3.18402E-06
13712 29 P/L 40 rs1425096489 0.3426 None gnomAD-2.1.1 4.03E-06
13712 29 P/L 40 rs1425096489 0.3426 None gnomAD-4.0.0 1.36869E-06
13713 30 S/C 41 None 0.3518 None gnomAD-4.0.0 1.36869E-06
13713 30 S/P 41 None 0.3518 None gnomAD-4.0.0 1.20032E-06
13715 32 A/E 43 rs2060468649 0.1208 T1P
Literature None
13715 32 A/T 43 rs1192068092 0.1208 None gnomAD-2.1.1 4.03E-06
13715 32 A/T 43 rs1192068092 0.1208 None gnomAD-4.0.0 6.36801E-06
13716 33 I/T 45 None 0.7760 None gnomAD-4.0.0 3.18385E-06
13716 33 I/V 45 rs531807386 0.7760 None gnomAD-2.1.1 8.05E-06
13716 33 I/V 45 rs531807386 0.7760 None gnomAD-3.1.2 1.32E-05
13716 33 I/V 45 rs531807386 0.7760 None 1000 genomes 1.99681E-04
13716 33 I/V 45 rs531807386 0.7760 None gnomAD-4.0.0 4.95829E-06
13717 34 T/I 46 rs754753030 0.2790 None gnomAD-2.1.1 4.03E-06
13718 35 T/A 47 rs562561380 0.3823 None gnomAD-3.1.2 6.58E-06
13718 35 T/A 47 rs562561380 0.3823 None 1000 genomes 1.99681E-04
13718 35 T/A 47 rs562561380 0.3823 None gnomAD-4.0.0 6.57004E-06
13718 35 T/S 47 rs562561380 0.3823 None gnomAD-4.0.0 1.20032E-06
13720 37 M/K 49 rs1490705626 0.2074 None gnomAD-3.1.2 6.58E-06
13720 37 M/K 49 rs1490705626 0.2074 None gnomAD-4.0.0 6.57583E-06
13723 40 G/D 52 None 0.4617 None gnomAD-4.0.0 3.60097E-06
13723 40 G/S 52 rs188301588 0.4617 None gnomAD-2.1.1 3.22E-05
13723 40 G/S 52 rs188301588 0.4617 None gnomAD-3.1.2 1.32E-05
13723 40 G/S 52 rs188301588 0.4617 None 1000 genomes 1.99681E-04
13723 40 G/S 52 rs188301588 0.4617 None gnomAD-4.0.0 1.85937E-05
13724 41 S/G 55 None 0.4834 None gnomAD-4.0.0 6.84321E-07
13726 43 I/S 58 rs2060465786 0.1340 None gnomAD-3.1.2 6.58E-06
13726 43 I/S 58 rs2060465786 0.1340 None gnomAD-4.0.0 6.57583E-06
13727 44 R/C 59 rs397517563 0.8636 None gnomAD-2.1.1 4.03E-06
13727 44 R/C 59 rs397517563 0.8636 None gnomAD-3.1.2 1.32E-05
13727 44 R/C 59 rs397517563 0.8636 None gnomAD-4.0.0 5.12692E-06
13727 44 R/H 59 rs750520224 0.8636 None gnomAD-2.1.1 2.82E-05
13727 44 R/H 59 rs750520224 0.8636 None gnomAD-3.1.2 6.58E-06
13727 44 R/H 59 rs750520224 0.8636 None gnomAD-4.0.0 1.4876E-05
13728 45 E/D 70 rs2060464524 0.3495 None gnomAD-4.0.0 1.59193E-06
13728 45 E/G 70 None 0.3495 None gnomAD-4.0.0 3.18382E-06
13728 45 E/K 70 rs765483020 0.3495 None gnomAD-2.1.1 8.05E-06
13728 45 E/K 70 rs765483020 0.3495 None gnomAD-4.0.0 2.73732E-06
13729 46 S/G 73 rs1372970593 0.2419 None gnomAD-2.1.1 4.03E-06
13729 46 S/G 73 rs1372970593 0.2419 None gnomAD-4.0.0 4.10599E-06
13729 46 S/R 73 rs1303644206 0.2419 None gnomAD-2.1.1 4.03E-06
13731 48 K/N 115 rs559968058 0.1808 None gnomAD-2.1.1 4.03E-06
13731 48 K/N 115 rs559968058 0.1808 None gnomAD-3.1.2 6.58E-06
13731 48 K/N 115 rs559968058 0.1808 None gnomAD-4.0.0 6.57644E-06
13732 49 H/N 121 None 0.2386 None gnomAD-4.0.0 1.5919E-06
13733 50 R/K 122 rs1026532541 0.6726 None gnomAD-3.1.2 1.32E-05
13733 50 R/K 122 rs1026532541 0.6726 None gnomAD-4.0.0 1.31572E-05
13734 51 F/L 123 None 0.2365 None gnomAD-4.0.0 1.5919E-06
13734 51 F/Y 123 rs764467205 0.2365 None gnomAD-2.1.1 4.03E-06
13734 51 F/Y 123 rs764467205 0.2365 None gnomAD-4.0.0 1.5919E-06
13735 52 I/S 125 None 0.4183 None gnomAD-4.0.0 6.84328E-07
13735 52 I/T 125 rs2060462916 0.4183 None gnomAD-4.0.0 1.36866E-06
13736 53 A/S 127 rs540133480 0.4659 None gnomAD-2.1.1 6.79E-05
13736 53 A/S 127 rs540133480 0.4659 None gnomAD-3.1.2 7.89E-05
13736 53 A/S 127 rs540133480 0.4659 None 1000 genomes 3.99361E-04
13736 53 A/S 127 rs540133480 0.4659 None gnomAD-4.0.0 4.77231E-05
13736 53 A/T 127 rs540133480 0.4659 None gnomAD-2.1.1 8.05E-06
13736 53 A/T 127 rs540133480 0.4659 None gnomAD-3.1.2 6.58E-06
13736 53 A/T 127 rs540133480 0.4659 None gnomAD-4.0.0 3.09913E-06
13736 53 A/V 127 rs574135671 0.4659 None gnomAD-2.1.1 6.08E-05
13736 53 A/V 127 rs574135671 0.4659 None gnomAD-3.1.2 7.89E-05
13736 53 A/V 127 rs574135671 0.4659 None 1000 genomes 3.99361E-04
13736 53 A/V 127 rs574135671 0.4659 None gnomAD-4.0.0 7.1766E-05
13738 55 G/S 131 None 0.3519 None gnomAD-4.0.0 1.59196E-06
13739 56 K/N 134 rs2060461606 0.5832 None gnomAD-3.1.2 6.57E-06
13739 56 K/N 134 rs2060461606 0.5832 None gnomAD-4.0.0 6.57488E-06
13739 56 K/R 134 None 0.5832 None gnomAD-4.0.0 1.59193E-06
13740 57 D/A 135 rs1294256042 0.3982 None gnomAD-3.1.2 6.58E-06
13740 57 D/A 135 rs1294256042 0.3982 None gnomAD-4.0.0 6.5754E-06
13740 57 D/E 135 rs1559992349 0.3982 None gnomAD-2.1.1 4.03E-06
13740 57 D/E 135 rs1559992349 0.3982 None gnomAD-4.0.0 1.59196E-06
13740 57 D/N 135 None 0.3982 None gnomAD-4.0.0 1.59196E-06
13741 58 R/G 136 None 0.1133 None gnomAD-4.0.0 1.59195E-06
13742 59 K/E 137 None 0.2984 None gnomAD-4.0.0 1.59195E-06
13744 61 H/N 139 None 0.3733 None gnomAD-4.0.0 6.84368E-07
13744 61 H/R 139 None 0.3733 None gnomAD-4.0.0 1.59196E-06
13744 61 H/Y 139 rs1178244629 0.3733 None gnomAD-2.1.1 4.03E-06
13744 61 H/Y 139 rs1178244629 0.3733 None gnomAD-4.0.0 2.0531E-06
13745 62 I/M 140 None 0.0797 None gnomAD-4.0.0 6.84346E-07
13745 62 I/V 140 rs770466417 0.0797 None gnomAD-2.1.1 2.01E-05
13745 62 I/V 140 rs770466417 0.0797 None gnomAD-4.0.0 1.02651E-05
13746 63 I/M 141 rs1177814929 0.3516 None gnomAD-2.1.1 4.03E-06
13746 63 I/M 141 rs1177814929 0.3516 None gnomAD-4.0.0 1.59206E-06
13746 63 I/T 141 None 0.3516 None gnomAD-4.0.0 2.7375E-06
13746 63 I/V 141 rs554128863 0.3516 None gnomAD-2.1.1 4.03E-06
13746 63 I/V 141 rs554128863 0.3516 None gnomAD-3.1.2 6.57E-06
13746 63 I/V 141 rs554128863 0.3516 None 1000 genomes 1.99681E-04
13746 63 I/V 141 rs554128863 0.3516 None gnomAD-4.0.0 6.56978E-06
13750 67 L/F 146 None 0.5441 None gnomAD-4.0.0 1.20032E-06
13751 68 S/P 148 rs1327407922 0.5024 None gnomAD-4.0.0 3.60097E-06
13752 69 D/N 149 rs1349773180 0.1732 None gnomAD-2.1.1 4.03E-06
13752 69 D/N 149 rs1349773180 0.1732 None gnomAD-4.0.0 1.57411E-05
13752 69 D/V 149 None 0.1732 None gnomAD-4.0.0 1.59228E-06
13753 70 A/G 151 rs1228071677 0.2271 None gnomAD-4.0.0 1.59229E-06
13753 70 A/S 151 None 0.2271 None gnomAD-4.0.0 1.3688E-06
13754 71 G/D 152 None 0.1840 None gnomAD-4.0.0 1.59236E-06
13754 71 G/R 152 None 0.1840 None gnomAD-4.0.0 6.84415E-07
13754 71 G/S 152 None 0.1840 None gnomAD-4.0.0 6.84415E-07
13755 72 E/A 153 None 0.4265 None gnomAD-4.0.0 1.59234E-06
13756 73 Y/N 154 rs1314692821 0.0944 None gnomAD-2.1.1 4.03E-06
13761 78 R/C 159 rs376166350 0.4339 None gnomAD-4.0.0 2.05442E-06
13761 78 R/H 159 rs781139091 0.4339 None gnomAD-2.1.1 3.95E-05
13761 78 R/H 159 rs781139091 0.4339 None gnomAD-3.1.2 1.97E-05
13761 78 R/H 159 rs781139091 0.4339 None gnomAD-4.0.0 2.7913E-05
13762 79 L/V 161 None 0.5279 None gnomAD-4.0.0 1.20032E-06
13763 80 G/R 162 rs768683479 0.5112 None gnomAD-2.1.1 4.05E-06
13763 80 G/R 162 rs768683479 0.5112 None gnomAD-4.0.0 2.05568E-06
13764 81 N/K 163 rs1417225547 1.1860 None gnomAD-4.0.0 3.19518E-06
13765 82 K/E 164 rs1376605407 0.8421 None gnomAD-2.1.1 4.05E-06
13765 82 K/E 164 rs1376605407 0.8421 None gnomAD-4.0.0 2.05607E-05
13766 83 E/D 165 rs575272939 0.6945 None gnomAD-2.1.1 2.03E-05
13766 83 E/D 165 rs575272939 0.6945 None gnomAD-3.1.2 1.31E-05
13766 83 E/D 165 rs575272939 0.6945 None 1000 genomes 1.99681E-04
13766 83 E/D 165 rs575272939 0.6945 None gnomAD-4.0.0 2.35862E-05
13766 83 E/K 165 None 0.6945 None gnomAD-4.0.0 3.42741E-06
13766 83 E/Q 165 rs867849913 0.6945 None gnomAD-2.1.1 8.11E-06
13766 83 E/Q 165 rs867849913 0.6945 None gnomAD-4.0.0 2.05645E-06
13767 84 K/N 166 None 0.6117 None gnomAD-4.0.0 1.20032E-06
13768 85 T/I 168 None 0.5189 None gnomAD-4.0.0 1.37152E-06
13768 85 T/P 168 None 0.5189 None gnomAD-4.0.0 2.40064E-06
13768 85 T/S 168 None 0.5189 None gnomAD-4.0.0 6.85761E-07
13769 86 S/F 169 rs1306932117 0.1010 None gnomAD-2.1.1 3.19E-05
13769 86 S/F 169 rs1306932117 0.1010 None gnomAD-4.0.0 1.20032E-06
13770 87 T/K 171 rs774214497 0.3519 None gnomAD-2.1.1 8.12E-06
13770 87 T/K 171 rs774214497 0.3519 None gnomAD-3.1.2 6.58E-06
13770 87 T/K 171 rs774214497 0.3519 None gnomAD-4.0.0 1.36731E-05
13770 87 T/M 171 rs774214497 0.3519 None gnomAD-2.1.1 1.44E-05
13770 87 T/M 171 rs774214497 0.3519 None gnomAD-3.1.2 3.95E-05
13770 87 T/M 171 rs774214497 0.3519 None gnomAD-4.0.0 2.54817E-05
13774 91 V/A 175 rs1423291544 0.2254 None gnomAD-4.0.0 6.89187E-07
13774 91 V/D 175 rs1423291544 0.2254 None gnomAD-4.0.0 6.89187E-07
13774 91 V/F 175 rs768582792 0.2254 None gnomAD-4.0.0 1.37868E-06
13774 91 V/L 175 rs768582792 0.2254 None gnomAD-4.0.0 2.06801E-06
13775 92 V/E 176 None 0.4677 None gnomAD-4.0.0 1.61995E-06