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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
2797 3 I/S 3 rs1561222466 0.2283 None gnomAD-4.0.0 6.84065E-07
2797 3 I/T 3 rs1561222466 0.2283 None gnomAD-4.0.0 6.84065E-07
2798 4 I/L 4 None 0.5235 None gnomAD-4.0.0 1.20032E-06
2798 4 I/T 4 rs751135365 0.5235 None gnomAD-2.1.1 3.99E-06
2798 4 I/T 4 rs751135365 0.5235 None gnomAD-4.0.0 1.36813E-06
2799 5 K/I 5 None 0.3818 None gnomAD-4.0.0 6.84062E-07
2799 5 K/Q 5 None 0.3818 None gnomAD-4.0.0 1.59047E-06
2799 5 K/R 5 None 0.3818 None gnomAD-4.0.0 6.84062E-07
2800 6 K/R 7 None 0.6547 None gnomAD-4.0.0 1.59048E-06
2801 7 P/Q 8 None 0.1747 None gnomAD-4.0.0 1.59049E-06
2802 8 K/E 9 rs1294814423 0.8755 None gnomAD-2.1.1 3.99E-06
2802 8 K/E 9 rs1294814423 0.8755 None gnomAD-4.0.0 1.59049E-06
2803 9 D/N 11 rs1457989871 0.4190 None gnomAD-2.1.1 3.99E-06
2803 9 D/N 11 rs1457989871 0.4190 None gnomAD-4.0.0 1.20032E-06
2806 12 A/V 16 None 0.1725 None gnomAD-4.0.0 1.20032E-06
2808 14 E/K 23 rs2154342769 0.5212 None gnomAD-4.0.0 1.59048E-06
2809 15 N/K 24 rs762595856 0.6548 None gnomAD-2.1.1 3.99E-06
2809 15 N/K 24 rs762595856 0.6548 None gnomAD-4.0.0 1.59048E-06
2810 16 A/G 25 rs1431193511 0.2359 None gnomAD-2.1.1 3.99E-06
2810 16 A/G 25 rs1431193511 0.2359 None gnomAD-4.0.0 3.18097E-06
2810 16 A/V 25 None 0.2359 None gnomAD-4.0.0 3.18097E-06
2811 17 T/A 26 rs1574566372 0.4650 None gnomAD-4.0.0 1.59047E-06
2812 18 V/I 28 None 0.2052 None gnomAD-4.0.0 1.36812E-06
2812 18 V/L 28 rs146636599 0.2052 None gnomAD-2.1.1 9.56E-05
2812 18 V/L 28 rs146636599 0.2052 None gnomAD-3.1.2 1.44575E-04
2812 18 V/L 28 rs146636599 0.2052 None gnomAD-4.0.0 4.39862E-05
2816 22 V/I 33 None 0.1092 None gnomAD-4.0.0 1.20032E-06
2820 26 H/R 41 rs794729581 0.3128 None gnomAD-2.1.1 3.18E-05
2820 26 H/R 41 rs794729581 0.3128 None gnomAD-3.1.2 1.97E-05
2820 26 H/R 41 rs794729581 0.3128 None gnomAD-4.0.0 6.81517E-06
2821 27 D/E 42 None 0.4130 None gnomAD-4.0.0 1.59048E-06
2821 27 D/Y 42 None 0.4130 None gnomAD-4.0.0 1.59049E-06
2822 28 T/I 43 None 0.8429 None gnomAD-4.0.0 1.36814E-06
2823 29 V/F 44 rs33917087 0.2488 None gnomAD-2.1.1 1.45513E-02
2823 29 V/F 44 rs33917087 0.2488 None gnomAD-3.1.2 1.55706E-02
2823 29 V/F 44 rs33917087 0.2488 None 1000 genomes 7.58786E-03
2823 29 V/F 44 rs33917087 0.2488 None gnomAD-4.0.0 1.85661E-02
2825 31 V/I 46 rs776670775 0.2488 None gnomAD-2.1.1 3.98E-06
2825 31 V/I 46 rs776670775 0.2488 None gnomAD-4.0.0 6.84067E-07
2825 31 V/L 46 None 0.2488 None gnomAD-4.0.0 2.73627E-06
2827 33 W/C 48 None 0.1382 None gnomAD-4.0.0 1.20032E-06
2827 33 W/L 48 None 0.1382 None gnomAD-4.0.0 2.40064E-06
2829 35 H/L 50 rs1272480712 0.1803 None gnomAD-2.1.1 3.98E-06
2829 35 H/L 50 rs1272480712 0.1803 None gnomAD-4.0.0 1.02609E-05
2829 35 H/R 50 None 0.1803 None gnomAD-4.0.0 6.84063E-07
2830 36 K/N 51 rs768672643 0.4945 None gnomAD-2.1.1 3.18E-05
2831 37 S/N 52 rs2306636 0.7921 None gnomAD-2.1.1 7.91051E-02
2831 37 S/N 52 rs2306636 0.7921 None gnomAD-3.1.2 5.16731E-02
2831 37 S/N 52 rs2306636 0.7921 None 1000 genomes 8.127E-02
2831 37 S/N 52 rs2306636 0.7921 None gnomAD-4.0.0 5.47099E-02
2832 38 V/L 55 rs375549179 0.6088 None gnomAD-2.1.1 1.42E-05
2832 38 V/L 55 rs375549179 0.6088 None gnomAD-3.1.2 3.94E-05
2832 38 V/L 55 rs375549179 0.6088 None gnomAD-4.0.0 1.34446E-04
2833 39 E/G 56 None 0.3109 None gnomAD-4.0.0 1.20032E-06
2836 42 P/L 70 rs1310170063 0.6256 None gnomAD-2.1.1 3.98E-06
2836 42 P/L 70 rs1310170063 0.6256 None gnomAD-4.0.0 1.59046E-06
2836 42 P/R 70 rs1310170063 0.6256 None gnomAD-4.0.0 3.18092E-06
2836 42 P/T 70 rs772547332 0.6256 None gnomAD-2.1.1 7.08E-06
2837 43 S/C 73 rs202024134 0.2819 None gnomAD-2.1.1 4.78E-05
2837 43 S/C 73 rs202024134 0.2819 None gnomAD-3.1.2 1.97E-05
2837 43 S/C 73 rs202024134 0.2819 None gnomAD-4.0.0 4.22571E-05
2837 43 S/G 73 rs202024134 0.2819 None gnomAD-2.1.1 3.98E-06
2837 43 S/G 73 rs202024134 0.2819 None gnomAD-4.0.0 3.18094E-06
2837 43 S/R 73 rs1166608062 0.2819 None gnomAD-3.1.2 6.57E-06
2837 43 S/R 73 rs1166608062 0.2819 None gnomAD-4.0.0 6.19566E-06
2840 46 H/R 121 None 0.3112 None gnomAD-4.0.0 1.20032E-06
2841 47 R/K 122 rs779603870 0.5635 None gnomAD-2.1.1 3.98E-06
2841 47 R/K 122 rs779603870 0.5635 None gnomAD-4.0.0 1.36812E-06
2842 48 L/P 123 rs771546584 0.3431 None gnomAD-2.1.1 3.18E-05
2842 48 L/P 123 rs771546584 0.3431 None gnomAD-3.1.2 1.97E-05
2842 48 L/P 123 rs771546584 0.3431 None gnomAD-4.0.0 8.67324E-06
2843 49 V/G 125 None 0.3732 None gnomAD-4.0.0 1.59046E-06
2844 50 S/L 127 rs2091265064 0.5121 None gnomAD-3.1.2 6.57E-06
2844 50 S/L 127 rs2091265064 0.5121 None gnomAD-4.0.0 6.57315E-06
2846 52 R/K 131 rs1658158334 0.7873 None gnomAD-3.1.2 6.57E-06
2846 52 R/K 131 rs1658158334 0.7873 None gnomAD-4.0.0 2.02991E-06
2847 53 K/E 134 rs794729582 0.2276 None gnomAD-2.1.1 3.98E-06
2847 53 K/E 134 rs794729582 0.2276 None gnomAD-4.0.0 2.73624E-06
2848 54 V/L 135 None 0.2386 None gnomAD-4.0.0 1.59046E-06
2849 55 H/N 136 None 0.1713 None gnomAD-4.0.0 1.59046E-06
2849 55 H/Q 136 rs2091263013 0.1713 None gnomAD-4.0.0 1.59045E-06
2850 56 K/R 137 rs1396734796 0.2954 None gnomAD-2.1.1 3.98E-06
2850 56 K/R 137 rs1396734796 0.2954 None gnomAD-4.0.0 1.59045E-06
2852 58 M/I 139 rs1464875201 0.3957 None gnomAD-2.1.1 7.96E-06
2852 58 M/I 139 rs1464875201 0.3957 None gnomAD-3.1.2 6.57E-06
2852 58 M/I 139 rs1464875201 0.3957 None gnomAD-4.0.0 2.56108E-06
2852 58 M/K 139 None 0.3957 None gnomAD-4.0.0 2.40064E-06
2852 58 M/V 139 rs1382675661 0.3957 None gnomAD-2.1.1 3.18E-05
2852 58 M/V 139 rs1382675661 0.3957 None gnomAD-3.1.2 6.57E-06
2852 58 M/V 139 rs1382675661 0.3957 None gnomAD-4.0.0 2.0298E-06
2853 59 L/V 140 rs1379690495 0.1248 None gnomAD-2.1.1 3.98E-06
2853 59 L/V 140 rs1379690495 0.1248 None gnomAD-4.0.0 1.59047E-06
2854 60 Q/H 141 None 0.5849 None gnomAD-4.0.0 6.84063E-07
2854 60 Q/R 141 rs750346528 0.5849 None gnomAD-4.0.0 1.59047E-06
2856 62 I/V 144 rs1387078141 0.1015 None gnomAD-2.1.1 3.18E-05
2856 62 I/V 144 rs1387078141 0.1015 None gnomAD-3.1.2 6.57E-06
2856 62 I/V 144 rs1387078141 0.1015 None gnomAD-4.0.0 5.12232E-06
2857 63 S/C 145 rs1003498795 0.1985 None gnomAD-3.1.2 6.57E-06
2857 63 S/C 145 rs1003498795 0.1985 None gnomAD-4.0.0 1.23913E-06
2857 63 S/F 145 rs1003498795 0.1985 None gnomAD-4.0.0 1.36813E-06
2857 63 S/Y 145 None 0.1985 None gnomAD-4.0.0 4.78845E-06
2858 64 P/L 146 rs370094744 0.5498 None gnomAD-2.1.1 1.42E-05
2858 64 P/L 146 rs370094744 0.5498 None gnomAD-3.1.2 2.63E-05
2858 64 P/L 146 rs370094744 0.5498 None gnomAD-4.0.0 7.435E-06
2858 64 P/R 146 rs370094744 0.5498 None gnomAD-4.0.0 6.84067E-07
2859 65 S/A 148 None 0.4827 None gnomAD-4.0.0 2.40065E-06
2860 66 D/H 149 rs2091257509 0.2120 None gnomAD-3.1.2 1.31E-05
2860 66 D/H 149 rs2091257509 0.2120 None gnomAD-4.0.0 3.04486E-06
2861 67 A/S 151 rs1383547916 0.3068 None gnomAD-3.1.2 1.31E-05
2861 67 A/S 151 rs1383547916 0.3068 None gnomAD-4.0.0 4.05965E-06
2862 68 G/R 152 None 0.2771 None gnomAD-4.0.0 1.59048E-06
2865 71 T/I 155 rs2091254998 0.1773 None gnomAD-4.0.0 2.05219E-06
2865 71 T/R 155 None 0.1773 None gnomAD-4.0.0 6.84064E-07
2866 72 A/T 156 rs147174853 0.0950 None gnomAD-2.1.1 1.59E-05
2866 72 A/T 156 rs147174853 0.0950 None gnomAD-3.1.2 1.97E-05
2866 72 A/T 156 rs147174853 0.0950 None 1000 genomes 1.99681E-04
2866 72 A/T 156 rs147174853 0.0950 None gnomAD-4.0.0 3.71718E-06
2867 73 V/M 157 None 0.2467 None gnomAD-4.0.0 1.20032E-06
2868 74 V/A 158 rs765207321 0.1710 None gnomAD-2.1.1 3.98E-06
2868 74 V/A 158 rs765207321 0.1710 None gnomAD-4.0.0 3.18094E-06
2869 75 G/R 164 rs764173950 0.5285 None gnomAD-2.1.1 2.48E-05
2869 75 G/R 164 rs764173950 0.5285 None gnomAD-3.1.2 1.31E-05
2869 75 G/R 164 rs764173950 0.5285 None gnomAD-4.0.0 8.0546E-06
2869 75 G/V 164 None 0.5285 None gnomAD-4.0.0 1.59046E-06
2870 76 Q/K 165 None 0.9816 None gnomAD-4.0.0 1.59047E-06
2870 76 Q/L 165 rs372008728 0.9816 None gnomAD-2.1.1 7.96E-06
2870 76 Q/L 165 rs372008728 0.9816 None gnomAD-3.1.2 6.57E-06
2870 76 Q/L 165 rs372008728 0.9816 None gnomAD-4.0.0 2.47824E-06
2871 77 L/F 166 None 0.4647 None gnomAD-4.0.0 1.59046E-06
2871 77 L/M 166 None 0.4647 None gnomAD-4.0.0 1.59046E-06
2873 79 C/G 169 None 0.1506 None gnomAD-4.0.0 2.05218E-06
2875 81 A/T 172 rs2091251469 0.1008 None gnomAD-4.0.0 1.20032E-06
2876 82 K/E 173 None 0.4552 None gnomAD-4.0.0 6.84061E-07
2876 82 K/Q 173 None 0.4552 None gnomAD-4.0.0 6.84061E-07
2877 83 L/R 174 None 0.1258 None gnomAD-4.0.0 1.20032E-06
2878 84 F/I 175 rs2091250841 0.5045 None gnomAD-3.1.2 6.57E-06
2878 84 F/I 175 rs2091250841 0.5045 None gnomAD-4.0.0 2.56115E-06
2878 84 F/L 175 None 0.5045 None gnomAD-4.0.0 1.59047E-06
2878 84 F/S 175 rs2091250535 0.5045 None gnomAD-4.0.0 1.36813E-06
2879 85 V/A 177 None 0.3020 None gnomAD-4.0.0 1.59047E-06