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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
14675 1 I/T 1 None 0.2526 None gnomAD-4.0.0 1.20032E-06
14675 1 I/V 1 rs1384628153 0.2526 None gnomAD-4.0.0 2.0558E-06
14677 3 L/P 3 None 0.2801 None gnomAD-4.0.0 1.20032E-06
14677 3 L/V 3 None 0.2801 None gnomAD-4.0.0 1.20032E-06
14678 4 V/E 4 None 0.3458 None gnomAD-4.0.0 1.59644E-06
14678 4 V/L 4 None 0.3458 None gnomAD-4.0.0 6.85168E-07
14678 4 V/M 4 rs761738561 0.3458 None gnomAD-2.1.1 8.12E-06
14678 4 V/M 4 rs761738561 0.3458 None gnomAD-3.1.2 1.32E-05
14678 4 V/M 4 rs761738561 0.3458 None gnomAD-4.0.0 2.48222E-06
14679 5 R/Q 5 rs369709751 0.5765 None gnomAD-2.1.1 1.04341E-04
14679 5 R/Q 5 rs369709751 0.5765 None gnomAD-3.1.2 9.87E-05
14679 5 R/Q 5 rs369709751 0.5765 None gnomAD-4.0.0 7.26008E-05
14680 6 P/A 7 None 0.4138 None gnomAD-4.0.0 1.20032E-06
14680 6 P/L 7 None 0.4138 None gnomAD-4.0.0 3.60097E-06
14683 9 S/G 11 None 0.4261 None gnomAD-4.0.0 1.59433E-06
14684 10 V/L 13 rs2059719746 0.1898 None gnomAD-4.0.0 6.8445E-07
14684 10 V/M 13 rs2059719746 0.1898 None gnomAD-4.0.0 1.3689E-06
14685 11 E/K 14 rs1473069344 0.4241 None gnomAD-2.1.1 4.03E-06
14685 11 E/K 14 rs1473069344 0.4241 None gnomAD-3.1.2 1.32E-05
14685 11 E/K 14 rs1473069344 0.4241 None gnomAD-4.0.0 1.79467E-05
14687 13 M/I 18 rs775432065 0.5160 None gnomAD-2.1.1 8.05E-06
14687 13 M/I 18 rs775432065 0.5160 None gnomAD-4.0.0 3.18504E-06
14687 13 M/K 18 rs2059719184 0.5160 None gnomAD-4.0.0 6.84431E-07
14687 13 M/L 18 None 0.5160 None gnomAD-4.0.0 1.59256E-06
14687 13 M/T 18 rs2059719184 0.5160 None gnomAD-4.0.0 3.42215E-06
14688 14 E/Q 23 rs2059718388 0.4075 None gnomAD-4.0.0 3.42218E-06
14690 16 E/G 25 None 0.3389 None gnomAD-4.0.0 1.59243E-06
14690 16 E/K 25 None 0.3389 None gnomAD-4.0.0 1.59245E-06
14691 17 T/I 26 rs1048028645 0.2943 None gnomAD-3.1.2 6.58E-06
14691 17 T/I 26 rs1048028645 0.2943 None gnomAD-4.0.0 3.84595E-06
14691 17 T/K 26 rs1048028645 0.2943 None gnomAD-4.0.0 1.59241E-06
14693 19 R/C 29 rs200445568 0.6666 None gnomAD-2.1.1 2.32251E-04
14693 19 R/C 29 rs200445568 0.6666 None gnomAD-3.1.2 7.56479E-04
14693 19 R/C 29 rs200445568 0.6666 None 1000 genomes 5.99042E-04
14693 19 R/C 29 rs200445568 0.6666 None gnomAD-4.0.0 1.50009E-04
14693 19 R/H 29 rs746380621 0.6666 None gnomAD-2.1.1 6.79E-05
14693 19 R/H 29 rs746380621 0.6666 None gnomAD-3.1.2 5.26E-05
14693 19 R/H 29 rs746380621 0.6666 None gnomAD-4.0.0 4.71128E-05
14694 20 F/L 30 None 0.1156 None gnomAD-4.0.0 1.59233E-06
14697 23 E/K 34 rs1356852922 0.2196 None gnomAD-2.1.1 1.07E-05
14697 23 E/K 34 rs1356852922 0.2196 None gnomAD-3.1.2 2.63E-05
14697 23 E/K 34 rs1356852922 0.2196 None gnomAD-4.0.0 1.41008E-05
14699 25 S/C 38 rs1293270234 0.2257 None gnomAD-2.1.1 8.04E-06
14699 25 S/C 38 rs1293270234 0.2257 None gnomAD-4.0.0 4.77686E-06
14700 26 E/D 41 None 0.1863 None gnomAD-4.0.0 1.59225E-06
14701 27 D/A 42 rs1286396788 0.6076 None gnomAD-3.1.2 6.57E-06
14701 27 D/A 42 rs1286396788 0.6076 None gnomAD-4.0.0 6.57341E-06
14701 27 D/G 42 None 0.6076 None gnomAD-4.0.0 1.5922E-06
14702 28 D/H 43 rs727503627 1.0909 None gnomAD-2.1.1 1.61E-05
14702 28 D/H 43 rs727503627 1.0909 None gnomAD-4.0.0 9.5535E-06
14703 29 I/S 44 rs2059714410 0.2842 None gnomAD-3.1.2 6.58E-06
14703 29 I/S 44 rs2059714410 0.2842 None gnomAD-4.0.0 6.57575E-06
14705 31 A/D 46 None 0.1188 None gnomAD-4.0.0 1.20032E-06
14705 31 A/S 46 None 0.1188 None gnomAD-4.0.0 6.84425E-07
14705 31 A/T 46 rs751017081 0.1188 None gnomAD-2.1.1 1.78E-05
14705 31 A/T 46 rs751017081 0.1188 None gnomAD-3.1.2 3.29E-05
14705 31 A/T 46 rs751017081 0.1188 None gnomAD-4.0.0 7.43877E-06
14706 32 N/S 47 rs878854309 0.6657 None gnomAD-2.1.1 3.19E-05
14708 34 K/N 49 None 0.4159 None gnomAD-4.0.0 1.20032E-06
14708 34 K/R 49 None 0.4159 None gnomAD-4.0.0 6.84408E-07
14708 34 K/T 49 rs765822597 0.4159 None gnomAD-2.1.1 8.04E-06
14708 34 K/T 49 rs765822597 0.4159 None gnomAD-3.1.2 3.29E-05
14708 34 K/T 49 rs765822597 0.4159 None gnomAD-4.0.0 4.33911E-06
14709 35 L/I 50 None 0.1959 None gnomAD-4.0.0 1.20032E-06
14710 36 K/N 51 None 0.4639 None gnomAD-4.0.0 6.84456E-07
14710 36 K/Q 51 None 0.4639 None gnomAD-4.0.0 2.05388E-06
14712 38 E/D 55 rs377495241 0.7936 None gnomAD-2.1.1 4.02E-06
14712 38 E/D 55 rs377495241 0.7936 None gnomAD-4.0.0 6.8455E-07
14713 39 A/D 56 rs750296112 0.4859 None gnomAD-2.1.1 4.02E-06
14713 39 A/D 56 rs750296112 0.4859 None gnomAD-4.0.0 3.18621E-06
14713 39 A/G 56 None 0.4859 None gnomAD-4.0.0 1.5931E-06
14713 39 A/T 56 rs1476356250 0.4859 None gnomAD-3.1.2 1.32E-05
14713 39 A/T 56 rs1476356250 0.4859 None gnomAD-4.0.0 2.48017E-06
14714 40 L/I 58 None 0.2698 None gnomAD-4.0.0 1.20032E-06
14714 40 L/P 58 rs188047410 0.2698 None gnomAD-2.1.1 4.03E-06
14714 40 L/P 58 rs188047410 0.2698 None gnomAD-3.1.2 6.57E-06
14714 40 L/P 58 rs188047410 0.2698 None 1000 genomes 1.99681E-04
14714 40 L/P 58 rs188047410 0.2698 None gnomAD-4.0.0 2.56507E-06
14715 41 L/F 59 rs1448072807 0.9157 None gnomAD-3.1.2 6.58E-06
14715 41 L/F 59 rs1448072807 0.9157 None gnomAD-4.0.0 2.56581E-06
14715 41 L/I 59 rs1448072807 0.9157 None gnomAD-2.1.1 3.19E-05
14715 41 L/I 59 rs1448072807 0.9157 None gnomAD-3.1.2 6.58E-06
14715 41 L/I 59 rs1448072807 0.9157 None gnomAD-4.0.0 6.57514E-06
14715 41 L/P 59 None 0.9157 None gnomAD-4.0.0 2.40064E-06
14718 44 P/L 111 rs761687390 0.7922 None gnomAD-2.1.1 4.05E-06
14718 44 P/L 111 rs761687390 0.7922 None gnomAD-4.0.0 1.37036E-06
14720 46 C/F 121 rs752834664 0.1200 None gnomAD-2.1.1 1.7E-05
14720 46 C/F 121 rs752834664 0.1200 None gnomAD-3.1.2 6.58E-06
14720 46 C/F 121 rs752834664 0.1200 None gnomAD-4.0.0 1.93823E-05
14722 48 I/V 123 None 0.2000 None gnomAD-4.0.0 1.60139E-06
14724 50 E/K 127 rs1458591077 0.3526 None gnomAD-2.1.1 8.22E-06
14724 50 E/K 127 rs1458591077 0.3526 None gnomAD-4.0.0 1.60181E-06
14725 51 E/G 130 None 0.7324 None gnomAD-4.0.0 1.20032E-06
14726 52 G/S 131 rs767831350 0.4203 None gnomAD-2.1.1 1.23E-05
14726 52 G/S 131 rs767831350 0.4203 None gnomAD-3.1.2 1.32E-05
14726 52 G/S 131 rs767831350 0.4203 None gnomAD-4.0.0 6.43738E-06
14728 54 I/L 135 None 0.4324 None gnomAD-4.0.0 1.59929E-06
14728 54 I/M 135 rs572315033 0.4324 None gnomAD-2.1.1 4.08E-06
14728 54 I/M 135 rs572315033 0.4324 None gnomAD-3.1.2 6.57E-06
14728 54 I/M 135 rs572315033 0.4324 None 1000 genomes 1.99681E-04
14728 54 I/M 135 rs572315033 0.4324 None gnomAD-4.0.0 1.86256E-05
14728 54 I/T 135 None 0.4324 None gnomAD-4.0.0 1.20032E-06
14729 55 H/R 136 rs774485726 0.1356 None gnomAD-2.1.1 4.06E-06
14729 55 H/R 136 rs774485726 0.1356 None gnomAD-4.0.0 1.37065E-06
14729 55 H/Y 136 None 0.1356 None gnomAD-4.0.0 1.20033E-06
14730 56 S/F 137 None 0.1856 None gnomAD-4.0.0 1.59593E-06
14731 57 L/F 138 rs771361227 0.0792 None gnomAD-2.1.1 1.13242E-04
14731 57 L/F 138 rs771361227 0.0792 None gnomAD-3.1.2 4.6E-05
14731 57 L/F 138 rs771361227 0.0792 None gnomAD-4.0.0 6.45231E-05
14733 59 L/S 140 None 0.1745 None gnomAD-4.0.0 1.20032E-06
14735 61 N/D 143 None 0.5589 None gnomAD-4.0.0 1.59319E-06
14735 61 N/K 143 rs773518259 0.5589 None gnomAD-2.1.1 4.03E-06
14735 61 N/K 143 rs773518259 0.5589 None gnomAD-4.0.0 3.18619E-06
14735 61 N/S 143 rs763464756 0.5589 None gnomAD-2.1.1 4.03E-06
14735 61 N/S 143 rs763464756 0.5589 None gnomAD-4.0.0 4.79188E-06
14736 62 C/S 144 None 0.0883 None gnomAD-4.0.0 1.59311E-06
14737 63 R/C 145 rs748593243 0.5892 None gnomAD-2.1.1 4.03E-06
14737 63 R/C 145 rs748593243 0.5892 None gnomAD-3.1.2 6.58E-06
14737 63 R/C 145 rs748593243 0.5892 None gnomAD-4.0.0 6.20039E-06
14737 63 R/H 145 rs373298007 0.5892 None gnomAD-2.1.1 1.39432E-04
14737 63 R/H 145 rs373298007 0.5892 None gnomAD-3.1.2 1.57924E-04
14737 63 R/H 145 rs373298007 0.5892 None 1000 genomes 3.99361E-04
14737 63 R/H 145 rs373298007 0.5892 None gnomAD-4.0.0 5.14578E-05
14737 63 R/L 145 rs373298007 0.5892 None gnomAD-2.1.1 2.03785E-04
14737 63 R/L 145 rs373298007 0.5892 None gnomAD-3.1.2 1.31603E-04
14737 63 R/L 145 rs373298007 0.5892 None 1000 genomes 5.99042E-04
14737 63 R/L 145 rs373298007 0.5892 None gnomAD-4.0.0 6.88171E-05
14738 64 L/V 146 rs2154219916 0.3782 None gnomAD-4.0.0 6.84516E-07
14740 66 Q/H 149 None 0.2707 None gnomAD-4.0.0 1.20032E-06
14741 67 T/A 151 rs745305661 0.3005 None gnomAD-2.1.1 4.02E-06
14741 67 T/A 151 rs745305661 0.3005 None gnomAD-4.0.0 1.59272E-06
14741 67 T/M 151 rs778576436 0.3005 None gnomAD-2.1.1 2.41E-05
14741 67 T/M 151 rs778576436 0.3005 None gnomAD-4.0.0 2.0535E-05
14742 68 G/D 152 rs1430202679 0.1606 None gnomAD-3.1.2 6.58E-06
14742 68 G/D 152 rs1430202679 0.1606 None gnomAD-4.0.0 6.5754E-06
14742 68 G/R 152 None 0.1606 None gnomAD-4.0.0 6.8448E-07
14742 68 G/S 152 None 0.1606 None gnomAD-4.0.0 1.36896E-06
14743 69 G/E 153 rs753855392 0.2159 None gnomAD-2.1.1 4.02E-06
14744 70 V/M 154 rs1465329711 0.0952 None gnomAD-3.1.2 6.58E-06
14744 70 V/M 154 rs1465329711 0.0952 None gnomAD-4.0.0 2.47987E-06
14748 74 A/V 158 None 0.1052 None gnomAD-4.0.0 1.59264E-06
14750 76 N/H 161 rs1299201088 0.5196 None gnomAD-2.1.1 3.19E-05
14750 76 N/H 161 rs1299201088 0.5196 None gnomAD-3.1.2 1.31E-05
14750 76 N/H 161 rs1299201088 0.5196 None gnomAD-4.0.0 1.31496E-05
14750 76 N/S 161 rs767633080 0.5196 None gnomAD-2.1.1 8.05E-06
14750 76 N/S 161 rs767633080 0.5196 None gnomAD-3.1.2 1.31E-05
14750 76 N/S 161 rs767633080 0.5196 None gnomAD-4.0.0 5.57919E-06
14750 76 N/Y 161 None 0.5196 None gnomAD-4.0.0 1.20032E-06
14751 77 V/I 162 rs1293013607 0.1234 None gnomAD-4.0.0 6.00162E-06
14753 79 S/Y 164 None 0.1391 None gnomAD-4.0.0 1.5927E-06
14754 80 S/I 165 rs377344521 0.4834 None gnomAD-3.1.2 6.58E-06
14754 80 S/I 165 rs377344521 0.4834 None gnomAD-4.0.0 1.2399E-06
14754 80 S/T 165 rs377344521 0.4834 None gnomAD-2.1.1 1.21E-05
14754 80 S/T 165 rs377344521 0.4834 None gnomAD-3.1.2 6.58E-06
14754 80 S/T 165 rs377344521 0.4834 None gnomAD-4.0.0 2.4798E-06
14755 81 A/V 166 None 0.1209 None gnomAD-4.0.0 1.08029E-05
14756 82 H/N 173 None 0.3921 None gnomAD-4.0.0 1.59299E-06
14756 82 H/Y 173 rs766470098 0.3921 None gnomAD-2.1.1 4.03E-06
14756 82 H/Y 173 rs766470098 0.3921 None gnomAD-4.0.0 1.59299E-06
14757 83 L/F 174 None 0.1039 None gnomAD-4.0.0 1.20032E-06
14758 84 R/G 175 None 0.5607 None gnomAD-4.0.0 1.36911E-06
14758 84 R/P 175 None 0.5607 None gnomAD-4.0.0 1.36908E-06
14758 84 R/Q 175 rs770389312 0.5607 None gnomAD-2.1.1 3.22E-05
14758 84 R/Q 175 rs770389312 0.5607 None gnomAD-3.1.2 5.26E-05
14758 84 R/Q 175 rs770389312 0.5607 None gnomAD-4.0.0 5.0841E-05
14759 85 V/D 176 None 0.0937 None gnomAD-4.0.0 2.40064E-06
14760 86 K/E 177 None 0.4179 None gnomAD-4.0.0 6.84556E-07
14760 86 K/R 177 rs2059635881 0.4179 None gnomAD-4.0.0 1.20032E-06