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 90
P S F L V K P G R Q Q A I P D S T V E F K A I L K G T P P F K I K W F K D D V E L V S G P K C F I G L E G S T S F L N L Y S V D A S K T G Q Y T C H V T N D V G S D S C T T M L L V T E P P K F V K K L E A S K I V K A G D S S R L E C K I A G S P E I R V V W F R N E H E L P A S D K Y R M T F I D S V A V I Q M N N L S T E D S G D F I C E A Q N P A G S T S C S T K V I V K
- - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - P K F V K K L E A S K I V K A G D S S R L E C K I A G S P E I R V V W F R N E H E L P A S D K Y R M T F I D S V A V I Q M N N L S T E D S G D F I C E A Q N P A G S T S C S T K V I V -

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
6667 1 P/L 1 rs2079519176 0.1315 None gnomAD-4.0.0 6.94337E-07
6667 1 P/Q 1 None 0.1315 None gnomAD-4.0.0 6.94337E-07
6667 1 P/R 1 None 0.1315 None gnomAD-4.0.0 6.94337E-07
6667 1 P/S 1 rs771421787 0.1315 None gnomAD-2.1.1 8.68E-06
6667 1 P/T 1 rs771421787 0.1315 None gnomAD-3.1.2 6.57E-06
6667 1 P/T 1 rs771421787 0.1315 None gnomAD-4.0.0 6.57419E-06
6669 3 F/S 3 None 0.1852 None gnomAD-4.0.0 1.63511E-06
6670 4 V/A 4 None 0.5256 None gnomAD-4.0.0 2.07413E-06
6670 4 V/I 4 rs749601124 0.5256 None gnomAD-2.1.1 4.26E-06
6670 4 V/I 4 rs749601124 0.5256 None gnomAD-4.0.0 1.38357E-06
6672 6 K/I 7 None 0.6130 None gnomAD-4.0.0 1.62345E-06
6674 8 E/Q 9 None 0.5013 None gnomAD-4.0.0 1.20032E-06
6675 9 A/D 11 None 0.6473 None gnomAD-4.0.0 6.89045E-07
6675 9 A/V 11 rs778363589 0.6473 None gnomAD-2.1.1 4.14E-06
6675 9 A/V 11 rs778363589 0.6473 None gnomAD-4.0.0 6.89045E-07
6676 10 S/F 13 rs746565627 0.4728 None gnomAD-2.1.1 1.09E-05
6676 10 S/F 13 rs746565627 0.4728 None gnomAD-3.1.2 6.57E-06
6676 10 S/F 13 rs746565627 0.4728 None gnomAD-4.0.0 1.43138E-05
6676 10 S/Y 13 rs746565627 0.4728 None gnomAD-3.1.2 6.57E-06
6676 10 S/Y 13 rs746565627 0.4728 None gnomAD-4.0.0 2.48935E-06
6679 13 V/E 17 None 0.1929 None gnomAD-4.0.0 1.20032E-06
6679 13 V/L 17 None 0.1929 None gnomAD-4.0.0 6.86256E-07
6681 15 A/E 23 None 0.3266 None gnomAD-4.0.0 6.85891E-07
6681 15 A/T 23 rs779405672 0.3266 None gnomAD-2.1.1 1.22E-05
6681 15 A/T 23 rs779405672 0.3266 None gnomAD-3.1.2 6.57E-06
6681 15 A/T 23 rs779405672 0.3266 None gnomAD-4.0.0 6.83249E-06
6681 15 A/V 23 rs2079510366 0.3266 None gnomAD-4.0.0 2.05767E-06
6682 16 G/C 24 rs1455272126 0.3265 None gnomAD-2.1.1 4.06E-06
6682 16 G/C 24 rs1455272126 0.3265 None gnomAD-4.0.0 1.59923E-06
6682 16 G/D 24 None 0.3265 None gnomAD-4.0.0 6.85637E-07
6682 16 G/V 24 rs534432929 0.3265 None gnomAD-2.1.1 2.84E-05
6682 16 G/V 24 rs534432929 0.3265 None gnomAD-3.1.2 1.32E-05
6682 16 G/V 24 rs534432929 0.3265 None 1000 genomes 1.99681E-04
6682 16 G/V 24 rs534432929 0.3265 None gnomAD-4.0.0 1.73838E-05
6683 17 D/E 25 None 0.4488 None gnomAD-4.0.0 1.5972E-06
6684 18 S/Y 26 None 0.4089 None gnomAD-4.0.0 1.59571E-06
6686 20 R/G 29 None 0.3706 None gnomAD-4.0.0 6.84814E-07
6686 20 R/Q 29 rs202022304 0.3706 None gnomAD-2.1.1 2.51E-05
6686 20 R/Q 29 rs202022304 0.3706 None gnomAD-3.1.2 3.95E-05
6686 20 R/Q 29 rs202022304 0.3706 None 1000 genomes 1.99681E-04
6686 20 R/Q 29 rs202022304 0.3706 None gnomAD-4.0.0 1.36438E-05
6687 21 L/V 30 rs2079507159 0.1660 None gnomAD-4.0.0 1.36953E-06
6688 22 E/A 31 rs1035063547 0.4067 None gnomAD-2.1.1 8.07E-06
6688 22 E/A 31 rs1035063547 0.4067 None gnomAD-3.1.2 1.97E-05
6688 22 E/A 31 rs1035063547 0.4067 None gnomAD-4.0.0 6.41213E-06
6690 24 K/E 34 None 0.4141 None gnomAD-4.0.0 1.20032E-06
6691 25 I/T 35 None 0.1055 None gnomAD-4.0.0 1.20032E-06
6691 25 I/V 35 rs1429994006 0.1055 None gnomAD-3.1.2 6.57E-06
6691 25 I/V 35 rs1429994006 0.1055 None gnomAD-4.0.0 4.05997E-06
6692 26 A/S 38 rs757056558 0.2909 None gnomAD-4.0.0 6.84548E-07
6692 26 A/T 38 rs757056558 0.2909 None gnomAD-2.1.1 1.21E-05
6692 26 A/T 38 rs757056558 0.2909 None gnomAD-4.0.0 8.21458E-06
6693 27 G/V 40 None 0.2926 None gnomAD-4.0.0 1.59303E-06
6694 28 S/F 41 rs774576049 0.2642 None gnomAD-2.1.1 4.03E-06
6694 28 S/Y 41 None 0.2642 None gnomAD-4.0.0 4.10716E-06
6695 29 P/L 42 None 0.3801 None gnomAD-4.0.0 1.59292E-06
6695 29 P/S 42 rs1278595517 0.3801 None gnomAD-2.1.1 4.03E-06
6695 29 P/S 42 rs1278595517 0.3801 None gnomAD-4.0.0 1.59304E-06
6696 30 E/A 43 rs764124148 0.9798 None gnomAD-2.1.1 4.03E-06
6696 30 E/A 43 rs764124148 0.9798 None gnomAD-4.0.0 1.5928E-06
6696 30 E/G 43 rs764124148 0.9798 None gnomAD-2.1.1 4.03E-06
6696 30 E/G 43 rs764124148 0.9798 None gnomAD-4.0.0 3.18561E-06
6698 32 R/K 45 None 0.5975 None gnomAD-4.0.0 1.20032E-06
6699 33 V/A 46 rs907862282 0.2172 None gnomAD-2.1.1 1.21E-05
6699 33 V/A 46 rs907862282 0.2172 None gnomAD-4.0.0 2.73795E-06
6699 33 V/D 46 rs907862282 0.2172 None gnomAD-2.1.1 3.19E-05
6699 33 V/D 46 rs907862282 0.2172 None gnomAD-3.1.2 1.98E-05
6699 33 V/D 46 rs907862282 0.2172 None gnomAD-4.0.0 3.72015E-06
6699 33 V/I 46 None 0.2172 None gnomAD-4.0.0 1.59282E-06
6700 34 V/A 47 rs367635778 0.2162 None gnomAD-3.1.2 2.63E-05
6700 34 V/A 47 rs367635778 0.2162 None gnomAD-4.0.0 3.7196E-06
6700 34 V/L 47 rs72648957 0.2162 None gnomAD-4.0.0 1.5928E-06
6701 35 W/C 48 None 0.1425 None gnomAD-4.0.0 1.59267E-06
6703 37 R/L 50 None 0.2694 None gnomAD-4.0.0 6.84488E-07
6703 37 R/Q 50 rs546821182 0.2694 None gnomAD-2.1.1 4.65E-05
6703 37 R/Q 50 rs546821182 0.2694 None gnomAD-3.1.2 1.44689E-04
6703 37 R/Q 50 rs546821182 0.2694 None 1000 genomes 1.99681E-04
6703 37 R/Q 50 rs546821182 0.2694 None gnomAD-4.0.0 3.40956E-05
6706 40 H/Q 55 None 0.7381 None gnomAD-4.0.0 1.20032E-06
6707 41 E/K 56 rs2079497465 0.4998 None gnomAD-4.0.0 1.59256E-06
6709 43 P/S 59 None 0.6590 None gnomAD-4.0.0 3.18517E-06
6712 46 D/E 111 None 0.8865 None gnomAD-4.0.0 1.20032E-06
6713 47 K/N 115 rs375668907 0.2259 None gnomAD-2.1.1 8.05E-06
6713 47 K/N 115 rs375668907 0.2259 None gnomAD-3.1.2 1.97E-05
6713 47 K/N 115 rs375668907 0.2259 None gnomAD-4.0.0 1.5498E-05
6713 47 K/T 115 rs1410340266 0.2259 None gnomAD-2.1.1 4.03E-06
6713 47 K/T 115 rs1410340266 0.2259 None gnomAD-4.0.0 3.18491E-06
6714 48 Y/C 121 rs774722320 0.2035 None gnomAD-2.1.1 4.03E-06
6714 48 Y/C 121 rs774722320 0.2035 None gnomAD-4.0.0 2.05329E-06
6716 50 M/I 123 rs1157627734 0.2487 None gnomAD-2.1.1 8.05E-06
6716 50 M/I 123 rs1157627734 0.2487 None gnomAD-4.0.0 4.10675E-06
6716 50 M/K 123 rs28626194 0.2487 None gnomAD-2.1.1 1.8411E-03
6716 50 M/K 123 rs28626194 0.2487 None gnomAD-3.1.2 5.79323E-03
6716 50 M/K 123 rs28626194 0.2487 None 1000 genomes 4.39297E-03
6716 50 M/K 123 rs28626194 0.2487 None gnomAD-4.0.0 1.0544E-03
6716 50 M/R 123 rs28626194 0.2487 None gnomAD-2.1.1 8.05E-06
6716 50 M/R 123 rs28626194 0.2487 None 1000 genomes 3.99361E-04
6716 50 M/R 123 rs28626194 0.2487 None gnomAD-4.0.0 1.8596E-06
6717 51 T/I 125 None 0.5164 None gnomAD-4.0.0 1.20032E-06
6717 51 T/S 125 rs1468330606 0.5164 None gnomAD-2.1.1 8.05E-06
6717 51 T/S 125 rs1468330606 0.5164 None gnomAD-4.0.0 4.10663E-06
6718 52 F/L 127 None 0.3026 None gnomAD-4.0.0 1.20033E-06
6719 53 I/N 130 rs770377168 0.6901 None gnomAD-4.0.0 2.05334E-06
6719 53 I/T 130 rs770377168 0.6901 None gnomAD-2.1.1 3.93E-05
6719 53 I/T 130 rs770377168 0.6901 None gnomAD-3.1.2 1.97E-05
6719 53 I/T 130 rs770377168 0.6901 None gnomAD-4.0.0 1.48778E-05
6719 53 I/V 130 None 0.6901 None gnomAD-4.0.0 1.59253E-06
6720 54 D/V 131 rs1181953856 0.8917 None gnomAD-2.1.1 4.03E-06
6720 54 D/V 131 rs1181953856 0.8917 None gnomAD-4.0.0 1.59247E-06
6721 55 S/L 134 None 0.3182 None gnomAD-4.0.0 6.84445E-07
6724 58 V/F 137 rs140143513 0.1442 None gnomAD-4.0.0 6.84458E-07
6724 58 V/I 137 rs140143513 0.1442 None gnomAD-2.1.1 1.79E-05
6724 58 V/I 137 rs140143513 0.1442 None gnomAD-3.1.2 4.6E-05
6724 58 V/I 137 rs140143513 0.1442 None 1000 genomes 1.99681E-04
6724 58 V/I 137 rs140143513 0.1442 None gnomAD-4.0.0 1.23981E-05
6725 59 I/M 138 rs146627500 0.0670 None gnomAD-2.1.1 3.41552E-03
6725 59 I/M 138 rs146627500 0.0670 None gnomAD-3.1.2 1.74876E-03
6725 59 I/M 138 rs146627500 0.0670 None 1000 genomes 5.99042E-03
6725 59 I/M 138 rs146627500 0.0670 None gnomAD-4.0.0 2.17133E-03
6725 59 I/V 138 rs1241938140 0.0670 None gnomAD-3.1.2 6.57E-06
6725 59 I/V 138 rs1241938140 0.0670 None gnomAD-4.0.0 6.57367E-06
6726 60 Q/R 139 rs1159916010 0.4700 None gnomAD-3.1.2 6.57E-06
6726 60 Q/R 139 rs1159916010 0.4700 None gnomAD-4.0.0 6.5735E-06
6727 61 M/L 140 None 0.0942 None gnomAD-4.0.0 1.36888E-06
6728 62 N/D 141 rs969621252 0.3267 None gnomAD-2.1.1 8.06E-06
6728 62 N/D 141 rs969621252 0.3267 None gnomAD-3.1.2 1.31E-05
6728 62 N/D 141 rs969621252 0.3267 None gnomAD-4.0.0 1.11581E-05
6728 62 N/H 141 rs969621252 0.3267 None gnomAD-2.1.1 4.03E-06
6728 62 N/H 141 rs969621252 0.3267 None gnomAD-4.0.0 4.79108E-06
6728 62 N/K 141 rs745322652 0.3267 None gnomAD-4.0.0 6.84452E-07
6729 63 N/D 143 rs794729619 0.7458 None gnomAD-2.1.1 4.03E-06
6729 63 N/D 143 rs794729619 0.7458 None gnomAD-3.1.2 6.57E-06
6729 63 N/D 143 rs794729619 0.7458 None gnomAD-4.0.0 1.85971E-06
6729 63 N/H 143 rs794729619 0.7458 None gnomAD-3.1.2 6.57E-06
6729 63 N/H 143 rs794729619 0.7458 None gnomAD-4.0.0 1.23981E-06
6729 63 N/S 143 rs1337506969 0.7458 None gnomAD-3.1.2 6.57E-06
6729 63 N/S 143 rs1337506969 0.7458 None gnomAD-4.0.0 6.57428E-06
6733 67 E/D 148 rs374881285 0.6484 None gnomAD-2.1.1 4.03E-06
6734 68 D/E 149 rs2079483133 0.1709 None gnomAD-4.0.0 1.3701E-06
6735 69 S/G 151 None 0.2316 None gnomAD-4.0.0 1.59942E-06
6737 71 D/A 153 rs1280168103 0.4358 None gnomAD-2.1.1 4.06E-06
6737 71 D/A 153 rs1280168103 0.4358 None gnomAD-3.1.2 1.31E-05
6737 71 D/A 153 rs1280168103 0.4358 None gnomAD-4.0.0 2.48988E-06
6737 71 D/V 153 None 0.4358 None gnomAD-4.0.0 1.37525E-06
6740 74 C/R 156 rs1232772786 0.0738 None gnomAD-2.1.1 4.07E-06
6740 74 C/R 156 rs1232772786 0.0738 None gnomAD-3.1.2 6.57E-06
6740 74 C/R 156 rs1232772786 0.0738 None gnomAD-4.0.0 2.49075E-06
6740 74 C/Y 156 rs1414995502 0.0738 None gnomAD-2.1.1 3.19E-05
6740 74 C/Y 156 rs1414995502 0.0738 None gnomAD-3.1.2 6.57E-06
6740 74 C/Y 156 rs1414995502 0.0738 None gnomAD-4.0.0 2.58983E-06
6741 75 E/G 157 rs1380825036 0.3273 None gnomAD-2.1.1 3.19E-05
6741 75 E/G 157 rs1380825036 0.3273 None gnomAD-3.1.2 6.57E-06
6741 75 E/G 157 rs1380825036 0.3273 None gnomAD-4.0.0 6.5735E-06
6742 76 A/S 158 rs2079479232 0.0924 None gnomAD-3.1.2 6.57E-06
6742 76 A/S 158 rs2079479232 0.0924 None gnomAD-4.0.0 2.59887E-06
6742 76 A/V 158 rs545490977 0.0924 None gnomAD-3.1.2 6.58E-06
6742 76 A/V 158 rs545490977 0.0924 None 1000 genomes 1.99681E-04
6743 77 Q/H 159 rs1354673910 0.4279 None gnomAD-2.1.1 4.08E-06
6743 77 Q/H 159 rs1354673910 0.4279 None gnomAD-4.0.0 5.51483E-06
6743 77 Q/R 159 rs794729620 0.4279 None gnomAD-4.0.0 1.37835E-06
6745 79 P/S 162 rs756864644 0.6987 None gnomAD-2.1.1 2.87E-05
6745 79 P/S 162 rs756864644 0.6987 None gnomAD-4.0.0 1.45056E-05
6745 79 P/T 162 None 0.6987 None gnomAD-4.0.0 6.90741E-07
6746 80 A/S 163 rs202108224 0.2690 None gnomAD-2.1.1 4.11E-06
6746 80 A/S 163 rs202108224 0.2690 None gnomAD-4.0.0 1.3843E-06
6746 80 A/T 163 rs202108224 0.2690 None gnomAD-2.1.1 3.27921E-04
6746 80 A/T 163 rs202108224 0.2690 None gnomAD-3.1.2 7.23265E-04
6746 80 A/T 163 rs202108224 0.2690 None 1000 genomes 1.99681E-04
6746 80 A/T 163 rs202108224 0.2690 None gnomAD-4.0.0 1.459E-04
6749 83 T/R 166 rs2079475430 0.2440 None gnomAD-3.1.2 6.57E-06
6749 83 T/R 166 rs2079475430 0.2440 None gnomAD-4.0.0 1.88295E-06
6750 84 S/N 168 rs1560744172 0.4051 None gnomAD-2.1.1 4.15E-06
6750 84 S/N 168 rs1560744172 0.4051 None gnomAD-4.0.0 1.65009E-06
6752 86 S/I 171 None 0.4215 None gnomAD-4.0.0 1.65984E-06
6753 87 T/A 172 None 0.1236 None gnomAD-4.0.0 1.39316E-06
6753 87 T/S 172 rs1465298575 0.1236 None gnomAD-2.1.1 3.19E-05
6753 87 T/S 172 rs1465298575 0.1236 None gnomAD-3.1.2 6.57E-06
6753 87 T/S 172 rs1465298575 0.1236 None gnomAD-4.0.0 3.14912E-06
6754 88 K/E 173 rs397517494 0.4678 None gnomAD-4.0.0 4.91921E-06
6755 89 V/A 174 rs2079471482 0.1282 None gnomAD-4.0.0 1.43747E-06
6755 89 V/F 174 rs876657599 0.1282 None gnomAD-3.1.2 6.58E-06
6755 89 V/F 174 rs876657599 0.1282 None gnomAD-4.0.0 2.71075E-06
6755 89 V/I 174 None 0.1282 None gnomAD-2.1.1 4.29E-06
6755 89 V/I 174 None 0.1282 None gnomAD-3.1.2 6.58E-06
6755 89 V/I 174 None 0.1282 None gnomAD-4.0.0 6.57583E-06
6755 89 V/L 174 rs876657599 0.1282 None gnomAD-2.1.1 4.29E-06
6755 89 V/L 174 rs876657599 0.1282 None gnomAD-4.0.0 1.70727E-06
6756 90 I/K 175 None 0.3523 None gnomAD-4.0.0 1.81613E-06
6756 90 I/M 175 None 0.3523 None gnomAD-4.0.0 7.2273E-07
6756 90 I/V 175 rs767498851 0.3523 None gnomAD-2.1.1 4.57E-06
6756 90 I/V 175 rs767498851 0.3523 None gnomAD-4.0.0 1.82085E-06