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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
30133 2 L/V 2 None 0.2958 None gnomAD-4.0.0 1.59263E-06
30135 4 D/A 4 None 0.9407 None gnomAD-4.0.0 1.36906E-06
30135 4 D/Y 4 rs1345842095 0.9407 None gnomAD-3.1.2 6.57E-06
30135 4 D/Y 4 rs1345842095 0.9407 None gnomAD-4.0.0 2.47984E-06
30137 6 P/L 7 None 0.7071 None gnomAD-4.0.0 1.20032E-06
30137 6 P/S 7 rs727505150 0.7071 None gnomAD-4.0.0 1.36941E-06
30138 7 G/R 8 rs1225356759 0.5144 None gnomAD-2.1.1 3.18E-05
30138 7 G/R 8 rs1225356759 0.5144 None gnomAD-3.1.2 1.97E-05
30138 7 G/R 8 rs1225356759 0.5144 None gnomAD-4.0.0 6.41534E-06
30141 10 V/I 13 None 0.2594 None gnomAD-4.0.0 1.37028E-06
30142 11 T/A 14 None 0.7179 None gnomAD-4.0.0 2.05658E-06
30142 11 T/I 14 rs754759596 0.7179 None gnomAD-3.1.2 6.57E-06
30142 11 T/I 14 rs754759596 0.7179 None gnomAD-4.0.0 6.57125E-06
30142 11 T/N 14 None 0.7179 None gnomAD-4.0.0 6.85568E-07
30142 11 T/S 14 rs754759596 0.7179 None gnomAD-2.1.1 4.03E-06
30142 11 T/S 14 rs754759596 0.7179 None gnomAD-4.0.0 6.85568E-07
30143 12 V/L 16 rs1287481084 0.3075 None gnomAD-2.1.1 4.04E-06
30143 12 V/L 16 rs1287481084 0.3075 None gnomAD-4.0.0 6.85653E-07
30145 14 I/N 23 rs751359750 0.5962 None gnomAD-2.1.1 4.04E-06
30145 14 I/N 23 rs751359750 0.5962 None gnomAD-4.0.0 1.37205E-06
30145 14 I/T 23 rs751359750 0.5962 None gnomAD-2.1.1 1.61E-05
30145 14 I/T 23 rs751359750 0.5962 None gnomAD-3.1.2 1.31E-05
30145 14 I/T 23 rs751359750 0.5962 None gnomAD-4.0.0 1.3666E-05
30146 15 G/E 24 rs758618786 0.2555 None gnomAD-2.1.1 4.04E-06
30146 15 G/R 24 rs766581267 0.2555 None gnomAD-2.1.1 4.04E-06
30146 15 G/R 24 rs766581267 0.2555 None gnomAD-4.0.0 6.17608E-06
30147 16 H/Q 25 rs72648242 0.5964 None gnomAD-2.1.1 1.62E-05
30147 16 H/Q 25 rs72648242 0.5964 None gnomAD-3.1.2 1.31E-05
30147 16 H/Q 25 rs72648242 0.5964 None gnomAD-4.0.0 1.28951E-05
30147 16 H/Y 25 None 0.5964 None gnomAD-4.0.0 1.60242E-06
30148 17 N/S 26 rs1699818097 0.5738 None gnomAD-4.0.0 3.20853E-06
30149 18 V/M 28 rs1699816128 0.2000 None gnomAD-4.0.0 1.60543E-06
30150 19 H/P 29 None 0.5799 None gnomAD-4.0.0 1.60908E-06
30150 19 H/Q 29 None 0.5799 None gnomAD-4.0.0 6.87602E-07
30150 19 H/Y 29 rs1166895783 0.5799 None gnomAD-2.1.1 4.05E-06
30150 19 H/Y 29 rs1166895783 0.5799 None gnomAD-4.0.0 1.60877E-06
30151 20 L/F 30 rs750520740 0.2355 None gnomAD-2.1.1 4.05E-06
30151 20 L/F 30 rs750520740 0.2355 None gnomAD-4.0.0 3.22724E-06
30151 20 L/P 30 rs568322187 0.2355 None gnomAD-2.1.1 1.44E-05
30151 20 L/P 30 rs568322187 0.2355 None gnomAD-3.1.2 4.6E-05
30151 20 L/P 30 rs568322187 0.2355 None gnomAD-4.0.0 6.16875E-05
30154 23 P/L 34 None 0.3248 None gnomAD-4.0.0 1.20032E-06
30154 23 P/R 34 None 0.3248 None gnomAD-4.0.0 1.20032E-06
30154 23 P/S 34 None 0.3248 None gnomAD-4.0.0 1.61884E-06
30155 24 Y/C 35 rs918516226 0.1695 None gnomAD-2.1.1 4.09E-06
30155 24 Y/C 35 rs918516226 0.1695 None gnomAD-3.1.2 6.57E-06
30155 24 Y/C 35 rs918516226 0.1695 None gnomAD-4.0.0 1.87219E-06
30155 24 Y/H 35 None 0.1695 None gnomAD-4.0.0 2.40066E-06
30156 25 K/E 38 rs762340648 0.4259 None gnomAD-2.1.1 4.11E-06
30156 25 K/E 38 rs762340648 0.4259 None gnomAD-3.1.2 6.57E-06
30156 25 K/E 38 rs762340648 0.4259 None gnomAD-4.0.0 2.60206E-06
30159 28 P/H 42 rs1699807023 0.4245 None gnomAD-3.1.2 6.57E-06
30159 28 P/H 42 rs1699807023 0.4245 None gnomAD-4.0.0 6.57436E-06
30161 30 P/S 44 None 0.1510 None gnomAD-4.0.0 1.63395E-06
30163 32 I/V 46 rs1445875669 0.2424 None gnomAD-4.0.0 1.20032E-06
30165 34 W/C 48 rs761010373 0.1796 None gnomAD-2.1.1 4.24E-06
30165 34 W/C 48 rs761010373 0.1796 None gnomAD-3.1.2 6.57E-06
30165 34 W/C 48 rs761010373 0.1796 None gnomAD-4.0.0 6.57151E-06
30165 34 W/S 48 None 0.1796 None gnomAD-4.0.0 2.08219E-06
30166 35 L/P 49 None 0.2345 None gnomAD-4.0.0 1.64581E-06
30168 37 D/G 51 rs1244536669 0.5066 None gnomAD-3.1.2 1.31E-05
30168 37 D/G 51 rs1244536669 0.5066 None gnomAD-4.0.0 1.31387E-05
30169 38 G/D 52 rs775893072 0.4032 None gnomAD-2.1.1 3.41E-05
30169 38 G/D 52 rs775893072 0.4032 None gnomAD-4.0.0 9.03258E-06
30169 38 G/V 52 None 0.4032 None gnomAD-4.0.0 6.94814E-07
30171 40 P/L 56 rs2154151253 0.6483 None gnomAD-4.0.0 3.30137E-06
30171 40 P/T 56 None 0.6483 None gnomAD-4.0.0 6.95148E-07
30172 41 L/M 58 rs1392178250 0.1968 None gnomAD-2.1.1 3.18E-05
30172 41 L/P 58 None 0.1968 None gnomAD-4.0.0 1.39005E-06
30172 41 L/R 58 None 0.1968 None gnomAD-4.0.0 6.95025E-07
30175 44 S/G 73 rs201060254 0.2885 None gnomAD-2.1.1 2.15E-05
30175 44 S/G 73 rs201060254 0.2885 None gnomAD-4.0.0 1.15489E-05
30175 44 S/R 73 rs1220880668 0.2885 None gnomAD-2.1.1 7.58E-06
30175 44 S/R 73 rs1220880668 0.2885 None gnomAD-3.1.2 6.57E-06
30175 44 S/R 73 rs1220880668 0.2885 None gnomAD-4.0.0 2.6377E-06
30175 44 S/T 73 None 0.2885 None gnomAD-4.0.0 1.64977E-06
30177 46 F/C 115 rs772875882 0.2786 None gnomAD-2.1.1 4.28E-06
30177 46 F/C 115 rs772875882 0.2786 None gnomAD-4.0.0 8.2216E-06
30177 46 F/L 115 rs748918212 0.2786 None gnomAD-2.1.1 1.28E-05
30177 46 F/L 115 rs748918212 0.2786 None gnomAD-4.0.0 5.55105E-06
30178 47 V/L 121 None 0.1586 None gnomAD-4.0.0 1.64371E-06
30179 48 R/C 122 rs769360937 0.6840 None gnomAD-2.1.1 3.77E-05
30179 48 R/C 122 rs769360937 0.6840 None gnomAD-3.1.2 3.29E-05
30179 48 R/C 122 rs769360937 0.6840 None gnomAD-4.0.0 3.26224E-05
30179 48 R/G 122 rs769360937 0.6840 None gnomAD-2.1.1 4.28E-06
30179 48 R/G 122 rs769360937 0.6840 None gnomAD-3.1.2 1.31E-05
30179 48 R/G 122 rs769360937 0.6840 None gnomAD-4.0.0 2.3212E-05
30179 48 R/H 122 rs149567378 0.6840 None gnomAD-2.1.1 3.2551E-03
30179 48 R/H 122 rs149567378 0.6840 None gnomAD-3.1.2 1.8407E-03
30179 48 R/H 122 rs149567378 0.6840 None 1000 genomes 6.1901E-03
30179 48 R/H 122 rs149567378 0.6840 None gnomAD-4.0.0 2.16914E-03
30179 48 R/P 122 rs149567378 0.6840 None gnomAD-2.1.1 4.32E-06
30179 48 R/P 122 rs149567378 0.6840 None gnomAD-4.0.0 1.38834E-06
30180 49 F/L 123 None 0.2534 None gnomAD-4.0.0 1.20032E-06
30182 51 K/I 127 None 0.5702 None gnomAD-4.0.0 1.20032E-06
30184 53 E/V 131 rs754965003 0.8482 None gnomAD-2.1.1 8.56E-06
30184 53 E/V 131 rs754965003 0.8482 None gnomAD-4.0.0 4.89221E-06
30188 57 T/I 137 rs1456715081 0.1926 None gnomAD-3.1.2 6.57E-06
30188 57 T/I 137 rs1456715081 0.1926 None gnomAD-4.0.0 2.49705E-06
30189 58 L/F 138 None 0.1189 None gnomAD-4.0.0 6.88953E-07
30191 60 I/T 140 None 0.1100 None gnomAD-4.0.0 2.06318E-06
30191 60 I/V 140 rs746824077 0.1100 None gnomAD-2.1.1 1.11E-05
30191 60 I/V 140 rs746824077 0.1100 None gnomAD-3.1.2 6.57E-06
30191 60 I/V 140 rs746824077 0.1100 None gnomAD-4.0.0 3.11628E-06
30193 62 N/H 143 rs1168404090 0.5408 None gnomAD-2.1.1 4.13E-06
30193 62 N/H 143 rs1168404090 0.5408 None gnomAD-3.1.2 6.57E-06
30193 62 N/H 143 rs1168404090 0.5408 None gnomAD-4.0.0 2.48845E-06
30193 62 N/K 143 rs779880537 0.5408 None gnomAD-2.1.1 4.1E-06
30193 62 N/K 143 rs779880537 0.5408 None gnomAD-3.1.2 6.57E-06
30193 62 N/K 143 rs779880537 0.5408 None gnomAD-4.0.0 2.57445E-06
30194 63 A/S 144 rs879039246 0.1021 None gnomAD-2.1.1 4.09E-06
30194 63 A/S 144 rs879039246 0.1021 None gnomAD-4.0.0 1.6008E-06
30194 63 A/V 144 rs1198317987 0.1021 None gnomAD-2.1.1 4.09E-06
30194 63 A/V 144 rs1198317987 0.1021 None gnomAD-4.0.0 1.60004E-06
30195 64 K/R 145 rs1699777024 0.2796 None gnomAD-4.0.0 2.05684E-06
30196 65 K/T 146 None 0.9125 None gnomAD-4.0.0 1.59921E-06
30197 66 E/G 148 rs531923761 0.5313 None gnomAD-2.1.1 3.24E-05
30197 66 E/G 148 rs531923761 0.5313 None gnomAD-3.1.2 6.57E-06
30197 66 E/G 148 rs531923761 0.5313 None 1000 genomes 1.99681E-04
30197 66 E/G 148 rs531923761 0.5313 None gnomAD-4.0.0 1.02693E-05
30198 67 H/D 149 rs750619537 0.1939 None gnomAD-2.1.1 8.11E-06
30198 67 H/D 149 rs750619537 0.1939 None gnomAD-3.1.2 6.58E-06
30198 67 H/D 149 rs750619537 0.1939 None gnomAD-4.0.0 2.4814E-06
30198 67 H/Q 149 rs765307374 0.1939 None gnomAD-2.1.1 4.05E-06
30198 67 H/Q 149 rs765307374 0.1939 None gnomAD-3.1.2 1.97E-05
30198 67 H/Q 149 rs765307374 0.1939 None gnomAD-4.0.0 1.24051E-05
30198 67 H/R 149 rs1479999162 0.1939 None gnomAD-2.1.1 4.05E-06
30198 67 H/R 149 rs1479999162 0.1939 None gnomAD-4.0.0 4.10941E-06
30199 68 G/E 151 rs757271306 0.2857 None gnomAD-2.1.1 4.05E-06
30199 68 G/E 151 rs757271306 0.2857 None gnomAD-3.1.2 6.57E-06
30199 68 G/E 151 rs757271306 0.2857 None gnomAD-4.0.0 2.02988E-06
30199 68 G/R 151 None 0.2857 None gnomAD-4.0.0 3.18963E-06
30200 69 G/E 152 None 0.2100 None gnomAD-4.0.0 1.20033E-06
30201 70 K/N 153 rs931505367 0.4804 None gnomAD-3.1.2 1.31E-05
30201 70 K/N 153 rs931505367 0.4804 None gnomAD-4.0.0 1.31435E-05
30202 71 Y/H 154 rs1319107729 0.1387 None gnomAD-2.1.1 8.08E-06
30202 71 Y/H 154 rs1319107729 0.1387 None gnomAD-4.0.0 4.79191E-06
30203 72 T/S 155 None 0.1507 None gnomAD-2.1.1 3.19E-05
30203 72 T/S 155 None 0.1507 None gnomAD-4.0.0 4.791E-06
30204 73 V/A 156 rs1699759872 0.0873 None gnomAD-4.0.0 6.84399E-07
30204 73 V/I 156 rs898701169 0.0873 None gnomAD-4.0.0 6.84415E-07
30205 74 I/N 157 rs1283032526 0.1543 None gnomAD-2.1.1 4.03E-06
30205 74 I/N 157 rs1283032526 0.1543 None gnomAD-4.0.0 3.18458E-06
30206 75 L/F 158 rs373893122 0.0893 None gnomAD-3.1.2 1.31E-05
30206 75 L/F 158 rs373893122 0.0893 None gnomAD-4.0.0 3.65721E-05
30206 75 L/I 158 None 0.0893 None gnomAD-3.1.2 6.57E-06
30206 75 L/I 158 None 0.0893 None gnomAD-4.0.0 6.57376E-06
30206 75 L/V 158 rs373893122 0.0893 None gnomAD-2.1.1 4.04E-06
30206 75 L/V 158 rs373893122 0.0893 None gnomAD-4.0.0 6.84401E-07
30209 78 A/P 162 None 0.6692 None gnomAD-4.0.0 1.59199E-06
30209 78 A/T 162 None 0.6692 None gnomAD-4.0.0 1.59199E-06
30209 78 A/V 162 None 0.6692 None gnomAD-4.0.0 1.20032E-06
30210 79 V/A 163 rs767880082 0.3701 None gnomAD-2.1.1 4.03E-06
30210 79 V/A 163 rs767880082 0.3701 None gnomAD-3.1.2 6.58E-06
30210 79 V/A 163 rs767880082 0.3701 None gnomAD-4.0.0 4.33874E-06
30210 79 V/L 163 rs753025017 0.3701 None gnomAD-4.0.0 2.05296E-06
30210 79 V/M 163 rs753025017 0.3701 None gnomAD-2.1.1 1.61E-05
30210 79 V/M 163 rs753025017 0.3701 None gnomAD-3.1.2 6.57E-06
30210 79 V/M 163 rs753025017 0.3701 None gnomAD-4.0.0 2.0453E-05
30211 80 C/R 164 rs1329290797 0.2731 None gnomAD-2.1.1 4.03E-06
30211 80 C/R 164 rs1329290797 0.2731 None gnomAD-4.0.0 1.59183E-06
30211 80 C/Y 164 None 0.2731 None gnomAD-4.0.0 2.73727E-06
30212 81 R/T 165 rs762512777 0.5569 None gnomAD-2.1.1 4.03E-06
30212 81 R/T 165 rs762512777 0.5569 None gnomAD-4.0.0 7.20193E-06
30213 82 I/T 166 rs114026724 0.2336 None gnomAD-2.1.1 1.93234E-03
30213 82 I/T 166 rs114026724 0.2336 None gnomAD-3.1.2 5.5565E-03
30213 82 I/T 166 rs114026724 0.2336 None 1000 genomes 6.58946E-03
30213 82 I/T 166 rs114026724 0.2336 None gnomAD-4.0.0 1.03813E-03
30214 83 A/S 168 rs769553778 0.4070 None gnomAD-4.0.0 6.84368E-07
30214 83 A/T 168 rs769553778 0.4070 None gnomAD-2.1.1 4.03E-06
30214 83 A/T 168 rs769553778 0.4070 None gnomAD-4.0.0 1.36874E-06
30214 83 A/V 168 rs1476886786 0.4070 None gnomAD-2.1.1 4.03E-06
30214 83 A/V 168 rs1476886786 0.4070 None gnomAD-4.0.0 2.05317E-06
30217 86 I/T 172 rs776252505 0.1417 None gnomAD-2.1.1 4.03E-06
30217 86 I/T 172 rs776252505 0.1417 None gnomAD-4.0.0 4.77584E-06
30217 86 I/V 172 rs1184438551 0.1417 None gnomAD-3.1.2 6.57E-06
30217 86 I/V 172 rs1184438551 0.1417 None gnomAD-4.0.0 2.43595E-05
30218 87 T/A 173 rs768528782 0.3174 None gnomAD-2.1.1 2.51E-05
30218 87 T/A 173 rs768528782 0.3174 None gnomAD-3.1.2 1.31E-05
30218 87 T/A 173 rs768528782 0.3174 None gnomAD-4.0.0 6.40741E-06
30218 87 T/I 173 rs2154151142 0.3174 None gnomAD-4.0.0 6.84353E-07
30219 88 V/F 177 None 0.1650 None gnomAD-4.0.0 1.36876E-06
30219 88 V/I 177 None 0.1650 None gnomAD-4.0.0 6.84382E-07