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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
2969 1 I/V 1 rs764394936 0.1223 None gnomAD-2.1.1 9.97E-05
2969 1 I/V 1 rs764394936 0.1223 None gnomAD-3.1.2 1.97E-05
2969 1 I/V 1 rs764394936 0.1223 None gnomAD-4.0.0 4.35647E-05
2970 2 M/I 2 None 0.5476 None gnomAD-4.0.0 1.20032E-06
2970 2 M/T 2 None 0.5476 None gnomAD-4.0.0 1.59137E-06
2972 4 T/A 4 None 0.4154 None gnomAD-4.0.0 2.05265E-06
2972 4 T/I 4 rs1244469362 0.4154 None gnomAD-4.0.0 2.05265E-06
2972 4 T/S 4 rs2091002766 0.4154 None gnomAD-3.1.2 6.57E-06
2972 4 T/S 4 rs2091002766 0.4154 None gnomAD-4.0.0 6.57056E-06
2973 5 S/F 5 rs1422918590 0.3246 None gnomAD-2.1.1 3.99E-06
2973 5 S/F 5 rs1422918590 0.3246 None gnomAD-4.0.0 6.36505E-06
2974 6 M/T 7 rs899464143 0.3995 None gnomAD-2.1.1 7.97E-06
2974 6 M/T 7 rs899464143 0.3995 None gnomAD-4.0.0 7.52596E-06
2974 6 M/V 7 rs993689796 0.3995 None gnomAD-4.0.0 1.20032E-06
2975 7 L/M 8 rs1445649834 0.1288 None gnomAD-2.1.1 3.99E-06
2977 9 D/N 11 None 0.3826 None gnomAD-4.0.0 1.59098E-06
2979 11 N/S 14 rs765890815 0.7616 None gnomAD-2.1.1 7.97E-06
2979 11 N/S 14 rs765890815 0.7616 None gnomAD-4.0.0 3.18176E-06
2980 12 A/T 16 rs72647885 0.1603 None gnomAD-2.1.1 5.06553E-04
2980 12 A/T 16 rs72647885 0.1603 None gnomAD-3.1.2 1.25668E-03
2980 12 A/T 16 rs72647885 0.1603 None 1000 genomes 1.59744E-03
2980 12 A/T 16 rs72647885 0.1603 None gnomAD-4.0.0 2.78227E-04
2981 13 E/K 18 None 0.3697 None gnomAD-4.0.0 6.84132E-07
2982 14 E/G 23 rs2090998936 0.4958 None gnomAD-4.0.0 2.40065E-06
2983 15 K/R 24 rs1387550627 0.6433 None gnomAD-3.1.2 6.57E-06
2983 15 K/R 24 rs1387550627 0.6433 None gnomAD-4.0.0 6.56909E-06
2984 16 D/N 25 rs2090998347 0.2685 None gnomAD-3.1.2 6.57E-06
2984 16 D/N 25 rs2090998347 0.2685 None gnomAD-4.0.0 3.09815E-06
2984 16 D/Y 25 rs2090998347 0.2685 None gnomAD-4.0.0 4.10473E-06
2985 17 T/S 26 rs727503684 0.3445 None gnomAD-2.1.1 3.98E-06
2985 17 T/S 26 rs727503684 0.3445 None gnomAD-3.1.2 6.57E-06
2985 17 T/S 26 rs727503684 0.3445 None gnomAD-4.0.0 2.03003E-06
2986 18 I/T 28 rs561206261 0.1020 None gnomAD-2.1.1 3.98E-06
2986 18 I/T 28 rs561206261 0.1020 None gnomAD-3.1.2 1.31E-05
2986 18 I/T 28 rs561206261 0.1020 None 1000 genomes 1.99681E-04
2986 18 I/T 28 rs561206261 0.1020 None gnomAD-4.0.0 3.09773E-06
2986 18 I/V 28 None 0.1020 None gnomAD-4.0.0 1.59074E-06
2987 19 T/A 29 None 0.2722 None gnomAD-4.0.0 1.59072E-06
2987 19 T/I 29 rs1246906229 0.2722 None gnomAD-2.1.1 3.98E-06
2987 19 T/I 29 rs1246906229 0.2722 None gnomAD-3.1.2 1.31E-05
2987 19 T/I 29 rs1246906229 0.2722 None gnomAD-4.0.0 3.04492E-06
2987 19 T/S 29 rs1294263680 0.2722 None gnomAD-2.1.1 3.98E-06
2987 19 T/S 29 rs1294263680 0.2722 None gnomAD-4.0.0 4.77215E-06
2988 20 F/S 30 None 0.1025 None gnomAD-4.0.0 2.05234E-06
2989 21 E/A 31 rs1383280638 0.4045 None gnomAD-2.1.1 3.98E-06
2989 21 E/A 31 rs1383280638 0.4045 None gnomAD-3.1.2 6.57E-06
2989 21 E/A 31 rs1383280638 0.4045 None gnomAD-4.0.0 2.56127E-06
2989 21 E/K 31 None 0.4045 None gnomAD-4.0.0 6.84106E-07
2990 22 V/M 33 rs746946974 0.0847 None gnomAD-2.1.1 2.39E-05
2990 22 V/M 33 rs746946974 0.0847 None gnomAD-4.0.0 3.42052E-06
2993 25 N/S 38 rs772335542 0.1834 None gnomAD-2.1.1 3.98E-06
2993 25 N/S 38 rs772335542 0.1834 None gnomAD-4.0.0 6.84097E-06
2994 26 Y/C 41 None 0.2651 None gnomAD-4.0.0 6.84093E-07
2994 26 Y/H 41 rs1288991244 0.2651 None gnomAD-2.1.1 3.98E-06
2994 26 Y/H 41 rs1288991244 0.2651 None gnomAD-4.0.0 4.77193E-06
2994 26 Y/N 41 None 0.2651 None gnomAD-4.0.0 3.18129E-06
2994 26 Y/S 41 rs745929875 0.2651 None gnomAD-2.1.1 3.98E-06
2994 26 Y/S 41 rs745929875 0.2651 None gnomAD-4.0.0 2.05228E-06
2995 27 E/D 42 None 0.4341 None gnomAD-4.0.0 6.84098E-07
2996 28 G/D 43 None 0.4726 None gnomAD-2.1.1 3.98E-06
2996 28 G/D 43 None 0.4726 None gnomAD-4.0.0 6.84097E-07
2996 28 G/S 43 None 0.4726 None gnomAD-4.0.0 1.20032E-06
2996 28 G/V 43 rs779053650 0.4726 None gnomAD-3.1.2 6.57E-06
2996 28 G/V 43 rs779053650 0.4726 None gnomAD-4.0.0 3.09801E-06
2997 29 I/F 44 rs879242806 0.1472 None gnomAD-3.1.2 6.57E-06
2997 29 I/F 44 rs879242806 0.1472 None gnomAD-4.0.0 1.23915E-06
2997 29 I/M 44 None 0.1472 None gnomAD-4.0.0 6.84095E-07
2997 29 I/V 44 None 0.1472 None gnomAD-4.0.0 9.57734E-06
2998 30 S/T 45 rs374490159 0.4865 None gnomAD-2.1.1 3.98E-06
2998 30 S/T 45 rs374490159 0.4865 None gnomAD-3.1.2 6.57E-06
2998 30 S/T 45 rs374490159 0.4865 None gnomAD-4.0.0 1.85877E-06
2998 30 S/Y 45 None 0.4865 None gnomAD-4.0.0 1.59066E-06
2999 31 Y/C 46 None 0.3021 None gnomAD-4.0.0 1.59063E-06
3000 32 K/R 47 None 0.4022 None gnomAD-4.0.0 1.59063E-06
3002 34 L/F 49 rs1390008829 0.1690 None gnomAD-2.1.1 3.98E-06
3002 34 L/F 49 rs1390008829 0.1690 None gnomAD-4.0.0 1.59063E-06
3003 35 K/Q 50 None 0.2286 None gnomAD-4.0.0 1.20032E-06
3005 37 G/A 52 None 0.3920 None gnomAD-4.0.0 6.84091E-07
3005 37 G/D 52 rs2090986560 0.3920 None gnomAD-4.0.0 4.78864E-06
3006 38 V/M 55 rs778118930 0.6862 None gnomAD-2.1.1 1.59E-05
3006 38 V/M 55 rs778118930 0.6862 None gnomAD-4.0.0 6.84091E-06
3008 40 I/V 58 rs756415356 0.1838 None gnomAD-2.1.1 3.98E-06
3008 40 I/V 58 rs756415356 0.1838 None gnomAD-4.0.0 1.59061E-06
3010 42 S/P 70 None 0.4964 None gnomAD-4.0.0 1.5906E-06
3011 43 T/I 73 rs753265092 0.4100 None gnomAD-2.1.1 7.96E-06
3011 43 T/I 73 rs753265092 0.4100 None gnomAD-4.0.0 3.18122E-06
3012 44 D/G 111 rs2090980591 0.7530 None gnomAD-3.1.2 1.31E-05
3012 44 D/G 111 rs2090980591 0.7530 None gnomAD-4.0.0 2.47834E-06
3012 44 D/N 111 None 0.7530 None gnomAD-4.0.0 1.5906E-06
3013 45 K/N 115 None 0.2239 None gnomAD-4.0.0 6.84088E-07
3016 48 M/K 123 rs1223583950 0.2092 None gnomAD-3.1.2 6.57E-06
3016 48 M/K 123 rs1223583950 0.2092 None gnomAD-4.0.0 6.57237E-06
3016 48 M/R 123 rs1223583950 0.2092 None gnomAD-2.1.1 3.98E-06
3016 48 M/R 123 rs1223583950 0.2092 None gnomAD-4.0.0 1.59059E-06
3017 49 R/I 125 rs372303620 0.6296 None gnomAD-4.0.0 1.36817E-06
3017 49 R/K 125 rs372303620 0.6296 None gnomAD-2.1.1 1.77E-05
3017 49 R/K 125 rs372303620 0.6296 None gnomAD-3.1.2 3.29E-05
3017 49 R/K 125 rs372303620 0.6296 None gnomAD-4.0.0 8.05506E-06
3018 50 T/I 127 rs761555504 0.3960 None gnomAD-2.1.1 3.98E-06
3018 50 T/I 127 rs761555504 0.3960 None gnomAD-4.0.0 3.18116E-06
3018 50 T/N 127 rs761555504 0.3960 None gnomAD-2.1.1 7.96E-06
3018 50 T/N 127 rs761555504 0.3960 None gnomAD-4.0.0 3.18117E-06
3019 51 K/R 130 None 0.5953 None gnomAD-4.0.0 1.59058E-06
3020 52 K/N 131 rs2090976989 0.5345 None gnomAD-4.0.0 1.5906E-06
3021 53 L/F 134 None 0.2365 None gnomAD-4.0.0 1.5906E-06
3022 54 T/I 135 None 0.2344 None gnomAD-4.0.0 1.36817E-06
3022 54 T/P 135 None 0.2344 None gnomAD-4.0.0 3.60396E-06
3023 55 H/R 136 None 0.1301 None gnomAD-4.0.0 1.59059E-06
3023 55 H/Y 136 rs763992518 0.1301 None gnomAD-2.1.1 2.83E-05
3023 55 H/Y 136 rs763992518 0.1301 None gnomAD-4.0.0 1.43153E-05
3025 57 L/V 138 rs142410663 0.0786 None gnomAD-2.1.1 7.96E-06
3025 57 L/V 138 rs142410663 0.0786 None gnomAD-4.0.0 3.1812E-06
3026 58 N/I 139 rs11900987 0.2096 None gnomAD-2.1.1 5.87166E-04
3026 58 N/I 139 rs11900987 0.2096 None gnomAD-3.1.2 1.82638E-03
3026 58 N/I 139 rs11900987 0.2096 None 1000 genomes 1.59744E-03
3026 58 N/I 139 rs11900987 0.2096 None gnomAD-4.0.0 4.50396E-04
3029 61 N/T 143 rs528892388 0.6426 None gnomAD-2.1.1 3.98E-06
3029 61 N/T 143 rs528892388 0.6426 None gnomAD-4.0.0 2.73634E-06
3030 62 V/I 144 rs895908518 0.0895 None gnomAD-2.1.1 3.98E-06
3030 62 V/I 144 rs895908518 0.0895 None gnomAD-3.1.2 6.57E-06
3030 62 V/I 144 rs895908518 0.0895 None gnomAD-4.0.0 2.47831E-06
3031 63 H/L 145 None 0.3547 None gnomAD-4.0.0 1.5906E-06
3033 65 G/E 148 rs772024586 0.2538 None gnomAD-2.1.1 3.98E-06
3033 65 G/E 148 rs772024586 0.2538 None gnomAD-4.0.0 1.59062E-06
3034 66 D/V 149 None 0.1407 None gnomAD-4.0.0 3.18129E-06
3035 67 A/G 151 None 0.2299 None gnomAD-4.0.0 6.84092E-07
3035 67 A/T 151 rs745745046 0.2299 None gnomAD-2.1.1 7.96E-06
3035 67 A/T 151 rs745745046 0.2299 None gnomAD-4.0.0 1.59061E-06
3035 67 A/V 151 None 0.2299 None gnomAD-4.0.0 2.05228E-06
3039 71 T/I 155 rs774523194 0.1618 None gnomAD-2.1.1 1.99E-05
3039 71 T/I 155 rs774523194 0.1618 None gnomAD-3.1.2 3.29E-05
3039 71 T/I 155 rs774523194 0.1618 None gnomAD-4.0.0 1.28069E-05
3039 71 T/N 155 None 0.1618 None gnomAD-2.1.1 3.98E-06
3039 71 T/S 155 rs774523194 0.1618 None gnomAD-2.1.1 3.98E-06
3039 71 T/S 155 rs774523194 0.1618 None gnomAD-4.0.0 1.59066E-06
3041 73 V/A 157 None 0.2220 None gnomAD-2.1.1 1.59E-05
3041 73 V/A 157 None 0.2220 None gnomAD-4.0.0 1.27253E-05
3041 73 V/L 157 None 0.2220 None gnomAD-4.0.0 1.59064E-06
3042 74 A/D 158 None 0.1100 None gnomAD-4.0.0 6.84096E-07
3042 74 A/S 158 rs756542210 0.1100 None gnomAD-2.1.1 3.18E-05
3042 74 A/S 158 rs756542210 0.1100 None gnomAD-3.1.2 6.57E-06
3042 74 A/S 158 rs756542210 0.1100 None gnomAD-4.0.0 1.2391E-05
3042 74 A/T 158 None 0.1100 None gnomAD-4.0.0 1.36819E-06
3042 74 A/V 158 None 0.1100 None gnomAD-4.0.0 6.84096E-07
3045 77 A/S 166 None 0.1496 None gnomAD-4.0.0 6.84156E-07
3045 77 A/T 166 rs755527049 0.1496 None gnomAD-2.1.1 7.98E-06
3045 77 A/T 166 rs755527049 0.1496 None gnomAD-3.1.2 6.57E-06
3045 77 A/T 166 rs755527049 0.1496 None gnomAD-4.0.0 4.95734E-06
3047 79 S/T 169 rs946142615 0.1381 None gnomAD-2.1.1 3.99E-06
3047 79 S/T 169 rs946142615 0.1381 None gnomAD-4.0.0 8.20963E-06
3048 80 T/A 171 rs74773630 0.3890 None gnomAD-3.1.2 6.57E-06
3048 80 T/A 171 rs74773630 0.3890 None gnomAD-4.0.0 3.84454E-06
3048 80 T/P 171 rs74773630 0.3890 None gnomAD-4.0.0 4.68102E-04
3049 81 A/G 172 None 0.0963 None gnomAD-4.0.0 1.20032E-06
3051 83 L/V 174 None 0.0839 None gnomAD-4.0.0 1.59075E-06
3052 84 Y/H 175 rs763833161 0.4708 None gnomAD-2.1.1 3.58E-05
3052 84 Y/H 175 rs763833161 0.4708 None gnomAD-4.0.0 1.64183E-05
3054 86 E/K 177 rs397517779 0.6913 None gnomAD-2.1.1 3.98E-06
3054 86 E/K 177 rs397517779 0.6913 None gnomAD-4.0.0 4.77204E-06
3054 86 E/Q 177 None 0.6913 None gnomAD-4.0.0 3.18136E-06