Select a Data Table to View:



Download domain sequence (FASTA)
Export SAV table to CSV

Select columns to include

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
P P G P P A K I R I A D S T K S S I T L G W S K P V Y D G G S A V T G Y V V E I R Q G E E E E W T T V S T K G E V R T T E Y V V S N L K P G V N Y Y F R V S A V N C A G Q G E P I E M N E P V Q A K D I L E A P E I D L D V A L R T S V I A K A G E D V Q V L I P F K G R P P P T V T W R K D E K N L G S D A R Y S I E N T D S S S L L T I P Q V T R N D T G K Y I L T I E N G V G E P K S S T V S V K V L
- - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - D V A L R T S V I A K A G E D V Q V L I P F K G R P P P T V T W R K D E K N L G S D A R Y S I E N T D S S S L L T I P Q V T R N D T G K Y I L T I E N G V G E P K S S T V S V K V -

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
29843 2 V/A 2 None 0.7317 None gnomAD-4.0.0 1.20032E-06
29843 2 V/E 2 None 0.7317 None gnomAD-4.0.0 1.20032E-06
29843 2 V/M 2 rs376014865 0.7317 None gnomAD-4.0.0 1.38498E-06
29845 4 L/V 4 None 0.2823 None gnomAD-4.0.0 1.63021E-06
29847 6 T/I 9 rs760372724 0.4606 None gnomAD-2.1.1 8.3E-06
29847 6 T/I 9 rs760372724 0.4606 None gnomAD-4.0.0 1.38176E-06
29847 6 T/N 9 None 0.4606 None gnomAD-4.0.0 6.90878E-07
29848 7 S/T 11 None 0.3713 None gnomAD-4.0.0 2.40065E-06
29849 8 V/F 13 rs727504493 0.2924 None gnomAD-4.0.0 4.14362E-06
29849 8 V/L 13 None 0.2924 None gnomAD-4.0.0 6.90603E-07
29851 10 A/D 16 rs774885355 0.1711 None gnomAD-2.1.1 8.27E-06
29851 10 A/D 16 rs774885355 0.1711 None gnomAD-3.1.2 6.57E-06
29851 10 A/D 16 rs774885355 0.1711 None gnomAD-4.0.0 8.74292E-06
29851 10 A/V 16 rs774885355 0.1711 None gnomAD-4.0.0 5.52057E-06
29852 11 K/R 18 rs771570602 0.6273 None gnomAD-2.1.1 4.13E-06
29852 11 K/R 18 rs771570602 0.6273 None gnomAD-4.0.0 1.20032E-06
29853 12 A/T 23 rs1337052263 0.4878 None gnomAD-3.1.2 6.57E-06
29853 12 A/T 23 rs1337052263 0.4878 None gnomAD-4.0.0 6.57142E-06
29854 13 G/D 24 rs1307295832 0.3099 None gnomAD-2.1.1 4.13E-06
29854 13 G/D 24 rs1307295832 0.3099 None gnomAD-3.1.2 6.57E-06
29854 13 G/D 24 rs1307295832 0.3099 None gnomAD-4.0.0 6.2402E-06
29856 15 D/E 26 None 0.5033 None gnomAD-4.0.0 6.88879E-07
29856 15 D/Y 26 rs1244755099 0.5033 None gnomAD-2.1.1 4.13E-06
29856 15 D/Y 26 rs1244755099 0.5033 None gnomAD-4.0.0 1.61856E-06
29858 17 Q/E 29 None 0.6709 None gnomAD-4.0.0 1.37714E-06
29858 17 Q/K 29 rs1316523481 0.6709 None gnomAD-2.1.1 4.12E-06
29858 17 Q/K 29 rs1316523481 0.6709 None gnomAD-3.1.2 6.57E-06
29858 17 Q/K 29 rs1316523481 0.6709 None gnomAD-4.0.0 9.97241E-06
29859 18 V/L 30 rs774284668 0.1814 None gnomAD-2.1.1 1.82E-05
29859 18 V/L 30 rs774284668 0.1814 None gnomAD-3.1.2 1.97E-05
29859 18 V/L 30 rs774284668 0.1814 None gnomAD-4.0.0 5.60907E-06
29859 18 V/M 30 None 0.1814 None gnomAD-4.0.0 1.37707E-06
29861 20 I/F 33 rs1384879576 0.1046 None gnomAD-2.1.1 4.12E-06
29861 20 I/F 33 rs1384879576 0.1046 None gnomAD-4.0.0 1.37576E-06
29863 22 F/S 35 None 0.1030 None gnomAD-4.0.0 1.20033E-06
29864 23 K/E 38 rs770839822 0.5070 None gnomAD-2.1.1 8.21E-06
29864 23 K/E 38 rs770839822 0.5070 None gnomAD-4.0.0 1.76963E-05
29865 24 G/R 40 None 0.1865 None gnomAD-4.0.0 1.37457E-06
29865 24 G/S 40 None 0.1865 None gnomAD-4.0.0 1.37457E-06
29866 25 R/G 41 rs1346127107 0.5781 None gnomAD-2.1.1 4.09E-06
29866 25 R/G 41 rs1346127107 0.5781 None gnomAD-4.0.0 1.60673E-06
29866 25 R/K 41 None 0.5781 None gnomAD-4.0.0 1.60661E-06
29867 26 P/L 42 rs1163231523 0.4245 None gnomAD-2.1.1 4.09E-06
29867 26 P/L 42 rs1163231523 0.4245 None gnomAD-4.0.0 1.60561E-06
29867 26 P/R 42 rs1163231523 0.4245 None gnomAD-2.1.1 3.18E-05
29867 26 P/R 42 rs1163231523 0.4245 None gnomAD-3.1.2 6.57E-06
29867 26 P/R 42 rs1163231523 0.4245 None gnomAD-4.0.0 6.5697E-06
29869 28 P/R 44 rs770203238 0.1466 None gnomAD-3.1.2 6.57E-06
29869 28 P/R 44 rs770203238 0.1466 None gnomAD-4.0.0 6.56953E-06
29870 29 T/A 45 rs372796632 0.5199 None gnomAD-2.1.1 4.08E-06
29870 29 T/A 45 rs372796632 0.5199 None gnomAD-4.0.0 6.86391E-07
29870 29 T/P 45 None 0.5199 None gnomAD-4.0.0 6.86391E-07
29871 30 V/A 46 None 0.2534 None gnomAD-4.0.0 2.40066E-06
29872 31 T/K 47 None 0.4236 None gnomAD-4.0.0 6.8614E-07
29873 32 W/G 48 None 0.1404 None gnomAD-4.0.0 2.05765E-06
29873 32 W/R 48 None 0.1404 None gnomAD-4.0.0 1.37177E-06
29875 34 K/E 50 None 0.1517 None gnomAD-4.0.0 2.40065E-06
29875 34 K/Q 50 rs1700097598 0.1517 None gnomAD-3.1.2 6.57E-06
29875 34 K/Q 50 rs1700097598 0.1517 None gnomAD-4.0.0 6.56866E-06
29876 35 D/E 51 rs397517743 0.7082 None gnomAD-2.1.1 1.44E-05
29876 35 D/E 51 rs397517743 0.7082 None gnomAD-3.1.2 6.57E-06
29876 35 D/E 51 rs397517743 0.7082 None gnomAD-4.0.0 1.67543E-05
29877 36 E/D 52 rs767080000 0.8076 None gnomAD-2.1.1 3.19E-05
29877 36 E/D 52 rs767080000 0.8076 None gnomAD-3.1.2 6.57E-06
29877 36 E/D 52 rs767080000 0.8076 None gnomAD-4.0.0 6.57091E-06
29878 37 K/E 55 None 0.4772 None gnomAD-4.0.0 3.60097E-06
29878 37 K/N 55 rs748356210 0.4772 None gnomAD-4.0.0 1.20033E-06
29879 38 N/K 56 rs756747766 0.4666 None gnomAD-4.0.0 6.86599E-07
29879 38 N/T 56 None 0.4666 None gnomAD-4.0.0 1.59533E-06
29880 39 L/F 58 None 0.0928 None gnomAD-4.0.0 6.84934E-07
29880 39 L/R 58 rs781165041 0.0928 None gnomAD-2.1.1 4.04E-06
29880 39 L/R 58 rs781165041 0.0928 None gnomAD-3.1.2 6.57E-06
29880 39 L/R 58 rs781165041 0.0928 None gnomAD-4.0.0 1.17841E-05
29881 40 G/S 69 None 0.5269 None gnomAD-4.0.0 1.59486E-06
29882 41 S/N 70 rs755022770 0.6444 None gnomAD-2.1.1 2.42E-05
29882 41 S/N 70 rs755022770 0.6444 None gnomAD-3.1.2 1.31E-05
29882 41 S/N 70 rs755022770 0.6444 None gnomAD-4.0.0 2.10834E-05
29882 41 S/R 70 None 0.6444 None gnomAD-4.0.0 2.40068E-06
29884 43 A/D 102 None 0.7914 None gnomAD-4.0.0 1.36918E-06
29884 43 A/G 102 None 0.7914 None gnomAD-4.0.0 6.84592E-07
29884 43 A/T 102 None 0.7914 None gnomAD-4.0.0 1.59346E-06
29884 43 A/V 102 rs1486750909 0.7914 None gnomAD-4.0.0 6.84592E-07
29885 44 R/G 115 rs368173790 0.2732 None gnomAD-2.1.1 4.03E-06
29885 44 R/G 115 rs368173790 0.2732 None gnomAD-4.0.0 1.59301E-06
29887 46 S/G 122 None 0.4919 None gnomAD-4.0.0 1.59251E-06
29888 47 I/M 123 rs1221359363 0.2756 None gnomAD-2.1.1 4.02E-06
29888 47 I/M 123 rs1221359363 0.2756 None gnomAD-3.1.2 6.57E-06
29888 47 I/M 123 rs1221359363 0.2756 None gnomAD-4.0.0 4.33868E-06
29888 47 I/T 123 rs1700084788 0.2756 None gnomAD-3.1.2 6.57E-06
29888 47 I/T 123 rs1700084788 0.2756 None gnomAD-4.0.0 4.33865E-06
29888 47 I/V 123 rs1301171033 0.2756 None gnomAD-3.1.2 6.57E-06
29888 47 I/V 123 rs1301171033 0.2756 None gnomAD-4.0.0 2.56337E-06
29889 48 E/D 125 rs1293413587 0.6421 None gnomAD-2.1.1 1.61E-05
29889 48 E/D 125 rs1293413587 0.6421 None gnomAD-4.0.0 5.47479E-06
29889 48 E/K 125 rs1356821044 0.6421 None gnomAD-2.1.1 4.02E-06
29889 48 E/K 125 rs1356821044 0.6421 None gnomAD-4.0.0 2.0531E-06
29890 49 N/D 127 None 0.5176 None gnomAD-4.0.0 1.20032E-06
29891 50 T/I 130 rs758970991 0.4278 None gnomAD-2.1.1 8.04E-06
29891 50 T/I 130 rs758970991 0.4278 None gnomAD-4.0.0 1.36863E-06
29891 50 T/N 130 None 0.4278 None gnomAD-4.0.0 6.84313E-07
29891 50 T/S 130 rs758970991 0.4278 None gnomAD-4.0.0 1.36863E-06
29893 52 S/A 134 rs1382237741 0.3693 None gnomAD-3.1.2 6.57E-06
29893 52 S/A 134 rs1382237741 0.3693 None gnomAD-4.0.0 3.09866E-06
29894 53 S/A 135 None 0.1602 None gnomAD-4.0.0 1.20032E-06
29897 56 L/F 138 rs180798672 0.0831 None gnomAD-2.1.1 2.01E-05
29897 56 L/F 138 rs180798672 0.0831 None gnomAD-3.1.2 1.97E-05
29897 56 L/F 138 rs180798672 0.0831 None 1000 genomes 1.99681E-04
29897 56 L/F 138 rs180798672 0.0831 None gnomAD-4.0.0 1.11535E-05
29900 59 P/L 141 rs1302918553 0.3287 None gnomAD-2.1.1 1.21E-05
29900 59 P/L 141 rs1302918553 0.3287 None gnomAD-4.0.0 8.21064E-06
29900 59 P/R 141 None 0.3287 None gnomAD-4.0.0 6.8422E-07
29903 62 T/I 145 rs72648240 0.3539 None gnomAD-2.1.1 8.04E-06
29903 62 T/I 145 rs72648240 0.3539 None gnomAD-3.1.2 1.31E-05
29903 62 T/I 145 rs72648240 0.3539 None gnomAD-4.0.0 6.81657E-06
29903 62 T/S 145 rs72648240 0.3539 None gnomAD-2.1.1 3.06959E-04
29903 62 T/S 145 rs72648240 0.3539 None gnomAD-3.1.2 2.43117E-04
29903 62 T/S 145 rs72648240 0.3539 None gnomAD-4.0.0 2.9931E-04
29904 63 R/C 146 rs1222259013 0.8445 None gnomAD-3.1.2 6.57E-06
29904 63 R/C 146 rs1222259013 0.8445 None gnomAD-4.0.0 3.71825E-06
29904 63 R/H 146 None 0.8445 None gnomAD-2.1.1 6.78E-05
29904 63 R/H 146 None 0.8445 None gnomAD-3.1.2 3.94E-05
29904 63 R/H 146 None 0.8445 None gnomAD-4.0.0 2.10697E-05
29904 63 R/L 146 rs397517744 0.8445 None gnomAD-2.1.1 4.02E-06
29904 63 R/L 146 rs397517744 0.8445 None gnomAD-4.0.0 1.36843E-06
29905 64 N/S 148 rs773727575 0.7963 None gnomAD-2.1.1 4.02E-06
29905 64 N/S 148 rs773727575 0.7963 None gnomAD-3.1.2 6.57E-06
29905 64 N/S 148 rs773727575 0.7963 None gnomAD-4.0.0 5.12376E-06
29906 65 D/N 149 rs770892973 0.1560 None gnomAD-2.1.1 4.02E-06
29906 65 D/N 149 rs770892973 0.1560 None gnomAD-4.0.0 4.78952E-06
29907 66 T/I 151 rs762852359 0.3443 None gnomAD-2.1.1 1.21E-05
29907 66 T/I 151 rs762852359 0.3443 None gnomAD-4.0.0 7.95626E-06
29908 67 G/R 152 rs765712246 0.2185 None gnomAD-4.0.0 6.84228E-07
29909 68 K/E 153 rs769543331 0.6779 None gnomAD-2.1.1 8.04E-06
29909 68 K/E 153 rs769543331 0.6779 None gnomAD-4.0.0 1.11393E-05
29911 70 I/S 155 rs1261129308 0.3300 None gnomAD-3.1.2 6.57E-06
29911 70 I/S 155 rs1261129308 0.3300 None gnomAD-4.0.0 6.56901E-06
29912 71 L/F 156 None 0.0808 None gnomAD-4.0.0 1.59168E-06
29912 71 L/P 156 rs748326514 0.0808 None gnomAD-2.1.1 2.41E-05
29912 71 L/P 156 rs748326514 0.0808 None gnomAD-4.0.0 9.58034E-06
29913 72 T/I 157 rs1222720970 0.2294 None gnomAD-2.1.1 1.21E-05
29913 72 T/I 157 rs1222720970 0.2294 None gnomAD-3.1.2 6.57E-06
29913 72 T/I 157 rs1222720970 0.2294 None gnomAD-4.0.0 8.67716E-06
29913 72 T/R 157 None 0.2294 None gnomAD-4.0.0 1.36872E-06
29914 73 I/K 158 None 0.0633 None gnomAD-4.0.0 6.84375E-07
29914 73 I/M 158 rs1230340692 0.0633 None gnomAD-2.1.1 4.02E-06
29914 73 I/M 158 rs1230340692 0.0633 None gnomAD-4.0.0 3.42198E-06
29914 73 I/T 158 rs952680348 0.0633 None gnomAD-2.1.1 4.02E-06
29914 73 I/T 158 rs952680348 0.0633 None gnomAD-3.1.2 6.57E-06
29914 73 I/T 158 rs952680348 0.0633 None gnomAD-4.0.0 3.0991E-06
29914 73 I/V 158 None 0.0633 None gnomAD-4.0.0 1.59212E-06
29916 75 N/D 161 rs1308602245 0.1586 None gnomAD-2.1.1 4.02E-06
29916 75 N/D 161 rs1308602245 0.1586 None gnomAD-4.0.0 6.84467E-07
29916 75 N/Y 161 rs1308602245 0.1586 None gnomAD-2.1.1 8.05E-06
29916 75 N/Y 161 rs1308602245 0.1586 None gnomAD-4.0.0 4.79127E-06
29918 77 V/A 163 rs768749427 0.2755 None gnomAD-2.1.1 3.22E-05
29918 77 V/A 163 rs768749427 0.2755 None gnomAD-4.0.0 1.91213E-05
29919 78 G/D 164 rs759930753 0.4651 None gnomAD-4.0.0 4.10828E-06
29920 79 E/D 165 rs747181293 0.7278 None gnomAD-2.1.1 8.06E-05
29920 79 E/D 165 rs747181293 0.7278 None gnomAD-3.1.2 5.26E-05
29920 79 E/D 165 rs747181293 0.7278 None gnomAD-4.0.0 4.09236E-05
29920 79 E/G 165 None 0.7278 None gnomAD-4.0.0 1.59379E-06
29922 81 K/E 167 rs972775598 0.3548 None gnomAD-3.1.2 6.57E-06
29922 81 K/E 167 rs972775598 0.3548 None gnomAD-4.0.0 2.02979E-06
29922 81 K/N 167 rs397517745 0.3548 None gnomAD-4.0.0 6.84852E-07
29924 83 S/L 169 rs1391021761 0.2215 None gnomAD-2.1.1 4.03E-06
29924 83 S/L 169 rs1391021761 0.2215 None gnomAD-3.1.2 6.57E-06
29924 83 S/L 169 rs1391021761 0.2215 None gnomAD-4.0.0 2.56692E-06
29925 84 T/S 171 rs780250655 0.3489 None gnomAD-2.1.1 4.03E-06
29925 84 T/S 171 rs780250655 0.3489 None gnomAD-4.0.0 1.20032E-06
29926 85 V/M 172 rs1553541468 0.1801 None gnomAD-4.0.0 1.59624E-06
29927 86 S/N 173 rs1462504715 0.3121 None gnomAD-2.1.1 4.03E-06
29927 86 S/N 173 rs1462504715 0.3121 None gnomAD-4.0.0 3.42566E-06
29928 87 V/I 174 rs746336106 0.1355 None gnomAD-2.1.1 4.04E-06
29930 89 V/L 177 None 0.1506 None gnomAD-4.0.0 2.05531E-06
29930 89 V/M 177 rs546141047 0.1506 None gnomAD-2.1.1 4.03E-06
29930 89 V/M 177 rs546141047 0.1506 None gnomAD-3.1.2 1.31E-05
29930 89 V/M 177 rs546141047 0.1506 None 1000 genomes 1.99681E-04
29930 89 V/M 177 rs546141047 0.1506 None gnomAD-4.0.0 1.31328E-05