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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
104 1 P/S 1 rs752692701 0.1184 None gnomAD-2.1.1 8.09E-06
104 1 P/S 1 rs752692701 0.1184 None gnomAD-4.0.0 8.013E-06
105 2 N/H 2 rs780972429 0.3789 None gnomAD-2.1.1 1.21E-05
105 2 N/H 2 rs780972429 0.3789 None gnomAD-4.0.0 2.74527E-06
105 2 N/K 2 None 0.3789 None gnomAD-4.0.0 6.86165E-07
107 4 V/F 4 None 0.4901 None gnomAD-4.0.0 6.86168E-07
107 4 V/I 4 rs755127321 0.4901 None gnomAD-2.1.1 1.62E-05
107 4 V/I 4 rs755127321 0.4901 None gnomAD-4.0.0 4.11701E-06
108 5 Q/E 5 None 0.2310 None gnomAD-4.0.0 1.60107E-06
108 5 Q/K 5 rs1428387902 0.2310 None gnomAD-3.1.2 6.57E-06
108 5 Q/K 5 rs1428387902 0.2310 None gnomAD-4.0.0 6.5716E-06
108 5 Q/R 5 None 0.2310 None gnomAD-4.0.0 1.20032E-06
109 6 R/Q 7 rs766434493 0.4586 None gnomAD-2.1.1 1.21E-05
109 6 R/Q 7 rs766434493 0.4586 None gnomAD-3.1.2 1.31E-05
109 6 R/Q 7 rs766434493 0.4586 None gnomAD-4.0.0 8.07592E-06
111 8 Q/R 9 None 0.6691 None gnomAD-4.0.0 6.85677E-07
112 9 S/C 11 None 0.3780 None gnomAD-3.1.2 6.57E-06
112 9 S/C 11 None 0.3780 None gnomAD-4.0.0 2.57113E-06
112 9 S/N 11 None 0.3780 None gnomAD-4.0.0 6.8547E-07
113 10 M/I 13 None 0.1529 None gnomAD-4.0.0 1.59693E-06
113 10 M/T 13 rs2094010012 0.1529 None gnomAD-4.0.0 3.60097E-06
113 10 M/V 13 rs1060500430 0.1529 None gnomAD-2.1.1 4.02E-06
113 10 M/V 13 rs1060500430 0.1529 None gnomAD-4.0.0 3.19452E-06
114 11 T/I 14 rs750606005 0.2837 None gnomAD-3.1.2 6.57E-06
114 11 T/I 14 rs750606005 0.2837 None gnomAD-4.0.0 6.57073E-06
114 11 T/N 14 rs750606005 0.2837 None gnomAD-2.1.1 1.07E-05
114 11 T/N 14 rs750606005 0.2837 None gnomAD-3.1.2 6.57E-06
114 11 T/N 14 rs750606005 0.2837 None gnomAD-4.0.0 2.56822E-06
115 12 V/M 16 rs564777385 0.1038 None gnomAD-2.1.1 3.57E-05
115 12 V/M 16 rs564777385 0.1038 None gnomAD-3.1.2 3.29E-05
115 12 V/M 16 rs564777385 0.1038 None 1000 genomes 3.99361E-04
115 12 V/M 16 rs564777385 0.1038 None gnomAD-4.0.0 1.36526E-05
116 13 R/T 18 rs569775318 0.2671 None gnomAD-2.1.1 4.01E-06
116 13 R/T 18 rs569775318 0.2671 None gnomAD-3.1.2 2.63E-05
116 13 R/T 18 rs569775318 0.2671 None 1000 genomes 1.99681E-04
116 13 R/T 18 rs569775318 0.2671 None gnomAD-4.0.0 2.97707E-05
117 14 Q/L 23 rs2094009394 0.3634 None gnomAD-4.0.0 1.59457E-06
119 16 S/T 25 rs371981798 0.0834 None gnomAD-2.1.1 4E-06
119 16 S/T 25 rs371981798 0.0834 None gnomAD-3.1.2 6.57E-06
119 16 S/T 25 rs371981798 0.0834 None gnomAD-4.0.0 2.48068E-06
122 19 R/S 29 None 0.2539 None gnomAD-4.0.0 1.59266E-06
123 20 L/F 30 rs890453511 0.2026 None gnomAD-4.0.0 2.05324E-06
124 21 Q/R 31 rs1307913669 0.2710 None gnomAD-2.1.1 3.99E-06
124 21 Q/R 31 rs1307913669 0.2710 None gnomAD-4.0.0 1.59211E-06
125 22 V/L 33 rs368101663 0.0866 None gnomAD-2.1.1 7.09E-06
125 22 V/L 33 rs368101663 0.0866 None gnomAD-3.1.2 1.31E-05
125 22 V/L 33 rs368101663 0.0866 None gnomAD-4.0.0 1.31413E-05
125 22 V/M 33 None 0.0866 None gnomAD-4.0.0 1.59222E-06
127 24 V/M 35 rs749010768 0.1147 None gnomAD-2.1.1 3.98E-06
127 24 V/M 35 rs749010768 0.1147 None gnomAD-4.0.0 4.1051E-06
128 25 T/N 38 rs769628564 0.3116 None gnomAD-4.0.0 1.36826E-06
128 25 T/S 38 rs769628564 0.3116 None gnomAD-2.1.1 3.98E-06
128 25 T/S 38 rs769628564 0.3116 None gnomAD-4.0.0 6.8413E-07
129 26 G/E 40 None 0.1313 None gnomAD-4.0.0 1.20032E-06
129 26 G/R 40 rs727503708 0.1313 None gnomAD-4.0.0 1.59097E-06
130 27 I/V 41 rs926251115 0.2631 None gnomAD-3.1.2 6.57E-06
130 27 I/V 41 rs926251115 0.2631 None gnomAD-4.0.0 6.57142E-06
131 28 P/L 42 rs781001961 0.2997 None gnomAD-2.1.1 3.98E-06
131 28 P/L 42 rs781001961 0.2997 None gnomAD-3.1.2 1.97E-05
131 28 P/L 42 rs781001961 0.2997 None gnomAD-4.0.0 1.97114E-05
131 28 P/S 42 rs747867752 0.2997 None gnomAD-2.1.1 1.19E-05
131 28 P/S 42 rs747867752 0.2997 None gnomAD-3.1.2 6.57E-06
131 28 P/S 42 rs747867752 0.2997 None gnomAD-4.0.0 6.19567E-06
132 29 T/A 43 rs1337018303 0.4013 None gnomAD-4.0.0 1.59065E-06
133 30 P/A 44 rs556390708 0.1174 None gnomAD-3.1.2 6.57E-06
133 30 P/A 44 rs556390708 0.1174 None gnomAD-4.0.0 6.57082E-06
133 30 P/L 44 None 0.1174 None gnomAD-4.0.0 1.59062E-06
133 30 P/S 44 rs556390708 0.1174 None gnomAD-3.1.2 6.57E-06
133 30 P/S 44 rs556390708 0.1174 None 1000 genomes 1.99681E-04
133 30 P/S 44 rs556390708 0.1174 None gnomAD-4.0.0 6.56573E-06
133 30 P/T 44 None 0.1174 None gnomAD-4.0.0 2.40064E-06
134 31 V/G 45 rs754896104 0.2879 None gnomAD-2.1.1 7.96E-06
134 31 V/G 45 rs754896104 0.2879 None gnomAD-4.0.0 2.73632E-06
134 31 V/L 45 None 0.2879 None gnomAD-4.0.0 6.84088E-07
135 32 V/E 46 rs1332868582 0.1267 None gnomAD-3.1.2 6.57E-06
135 32 V/E 46 rs1332868582 0.1267 None gnomAD-4.0.0 1.85875E-06
135 32 V/M 46 None 0.1267 None gnomAD-4.0.0 1.59059E-06
137 34 F/I 48 None 0.1347 None gnomAD-4.0.0 1.5905E-06
137 34 F/L 48 rs1482023535 0.1347 None gnomAD-2.1.1 3.98E-06
137 34 F/L 48 rs1482023535 0.1347 None gnomAD-4.0.0 1.5905E-06
138 35 Y/C 49 rs1561513682 0.1705 None gnomAD-2.1.1 3.98E-06
138 35 Y/C 49 rs1561513682 0.1705 None gnomAD-4.0.0 1.5905E-06
139 36 R/Q 50 rs780003580 0.1957 None gnomAD-2.1.1 2.39E-05
139 36 R/Q 50 rs780003580 0.1957 None gnomAD-4.0.0 1.36814E-05
139 36 R/W 50 rs752970602 0.1957 None gnomAD-2.1.1 8.49E-05
139 36 R/W 50 rs752970602 0.1957 None gnomAD-3.1.2 4.6E-05
139 36 R/W 50 rs752970602 0.1957 None gnomAD-4.0.0 1.06568E-04
141 38 G/E 52 rs750730828 0.3850 None gnomAD-2.1.1 2.83E-05
141 38 G/E 52 rs750730828 0.3850 None gnomAD-3.1.2 2.63E-05
141 38 G/E 52 rs750730828 0.3850 None gnomAD-4.0.0 1.61088E-05
141 38 G/R 52 rs758547822 0.3850 None gnomAD-2.1.1 3.98E-06
141 38 G/R 52 rs758547822 0.3850 None gnomAD-4.0.0 1.59049E-06
142 39 A/T 55 rs765532193 0.3057 None gnomAD-2.1.1 3.98E-06
142 39 A/T 55 rs765532193 0.3057 None gnomAD-3.1.2 1.31E-05
142 39 A/T 55 rs765532193 0.3057 None gnomAD-4.0.0 3.84156E-06
143 40 E/K 56 rs754182768 0.3756 None gnomAD-2.1.1 3.58E-05
143 40 E/K 56 rs754182768 0.3756 None gnomAD-3.1.2 1.97E-05
143 40 E/K 56 rs754182768 0.3756 None gnomAD-4.0.0 3.71746E-05
143 40 E/V 56 None 0.3756 None gnomAD-4.0.0 1.20032E-06
145 42 Q/K 59 None 0.6088 None gnomAD-4.0.0 1.59047E-06
146 43 S/N 70 rs1029708061 0.5026 None gnomAD-2.1.1 3.98E-06
146 43 S/N 70 rs1029708061 0.5026 None gnomAD-4.0.0 3.4203E-06
146 43 S/R 70 None 0.5026 None gnomAD-4.0.0 3.42031E-06
147 44 S/F 73 None 0.2805 None gnomAD-4.0.0 1.20032E-06
149 46 D/N 115 rs1465558432 0.2907 None gnomAD-2.1.1 1.19E-05
149 46 D/N 115 rs1465558432 0.2907 None gnomAD-4.0.0 5.47248E-06
150 47 F/L 121 None 0.1894 None gnomAD-4.0.0 5.47247E-06
151 48 Q/H 122 rs975437384 0.4062 None gnomAD-3.1.2 6.57E-06
151 48 Q/H 122 rs975437384 0.4062 None gnomAD-4.0.0 6.57056E-06
152 49 I/T 123 rs1178553128 0.2417 None gnomAD-2.1.1 3.98E-06
152 49 I/T 123 rs1178553128 0.2417 None gnomAD-4.0.0 2.73623E-06
154 51 Q/K 127 None 0.3066 None gnomAD-4.0.0 1.59044E-06
155 52 E/Q 130 rs1429805491 0.6344 None gnomAD-2.1.1 3.98E-06
155 52 E/Q 130 rs1429805491 0.6344 None gnomAD-4.0.0 1.59045E-06
156 53 G/S 131 None 0.3339 None gnomAD-4.0.0 1.20032E-06
157 54 D/G 134 None 0.3260 None gnomAD-4.0.0 1.20032E-06
157 54 D/N 134 rs1471570172 0.3260 None gnomAD-2.1.1 3.98E-06
157 54 D/N 134 rs1471570172 0.3260 None gnomAD-3.1.2 6.57E-06
157 54 D/N 134 rs1471570172 0.3260 None gnomAD-4.0.0 4.33674E-06
158 55 L/F 135 rs1490704308 0.2510 None gnomAD-2.1.1 3.18E-05
158 55 L/F 135 rs1490704308 0.2510 None gnomAD-3.1.2 6.57E-06
158 55 L/F 135 rs1490704308 0.2510 None gnomAD-4.0.0 1.85869E-06
158 55 L/V 135 None 0.2510 None gnomAD-4.0.0 6.84056E-07
159 56 Y/C 136 rs765935940 0.1351 None gnomAD-2.1.1 7.95E-06
159 56 Y/C 136 rs765935940 0.1351 None gnomAD-4.0.0 2.73623E-06
160 57 S/C 137 None 0.1242 None gnomAD-4.0.0 1.20032E-06
160 57 S/G 137 rs1482623810 0.1242 None gnomAD-2.1.1 3.98E-06
160 57 S/N 137 None 0.1242 None gnomAD-4.0.0 1.20032E-06
161 58 L/S 138 None 0.1039 None gnomAD-4.0.0 1.20032E-06
162 59 L/Q 139 rs145438758 0.1672 None gnomAD-2.1.1 3.54E-05
162 59 L/Q 139 rs145438758 0.1672 None gnomAD-3.1.2 3.94E-05
162 59 L/Q 139 rs145438758 0.1672 None 1000 genomes 1.99681E-04
162 59 L/Q 139 rs145438758 0.1672 None gnomAD-4.0.0 9.29267E-06
162 59 L/R 139 rs145438758 0.1672 None gnomAD-2.1.1 6.37E-05
162 59 L/R 139 rs145438758 0.1672 None gnomAD-3.1.2 2.63E-05
162 59 L/R 139 rs145438758 0.1672 None gnomAD-4.0.0 2.62826E-05
162 59 L/V 139 rs762430512 0.1672 None gnomAD-2.1.1 3.98E-06
162 59 L/V 139 rs762430512 0.1672 None gnomAD-4.0.0 1.59044E-06
163 60 I/S 140 None 0.0809 None gnomAD-4.0.0 1.20032E-06
163 60 I/V 140 rs2094004196 0.0809 None gnomAD-4.0.0 1.36812E-06
164 61 A/V 141 rs140166195 0.2015 None gnomAD-2.1.1 7.95E-06
164 61 A/V 141 rs140166195 0.2015 None gnomAD-4.0.0 1.59045E-06
167 64 Y/F 145 rs1331857304 0.1885 None gnomAD-2.1.1 3.98E-06
167 64 Y/F 145 rs1331857304 0.1885 None gnomAD-3.1.2 1.31E-05
167 64 Y/F 145 rs1331857304 0.1885 None gnomAD-4.0.0 3.84167E-06
167 64 Y/H 145 rs1226873128 0.1885 None gnomAD-2.1.1 1.59E-05
167 64 Y/H 145 rs1226873128 0.1885 None gnomAD-3.1.2 6.57E-06
167 64 Y/H 145 rs1226873128 0.1885 None gnomAD-4.0.0 1.30108E-05
168 65 P/L 146 None 0.2487 None gnomAD-4.0.0 4.77133E-06
169 66 E/K 148 None 0.4172 None gnomAD-4.0.0 1.59046E-06
170 67 D/G 149 None 0.1431 None gnomAD-4.0.0 2.40075E-06
172 69 G/E 152 None 0.1441 None gnomAD-4.0.0 1.20032E-06
176 73 V/A 156 None 0.0765 None gnomAD-4.0.0 1.59045E-06
176 73 V/I 156 None 0.0765 None gnomAD-4.0.0 6.84061E-07
176 73 V/L 156 rs941179323 0.0765 None gnomAD-3.1.2 3.29E-05
176 73 V/L 156 rs941179323 0.0765 None gnomAD-4.0.0 6.84061E-07
177 74 N/S 157 None 0.2261 None gnomAD-4.0.0 1.20032E-06
178 75 A/D 158 None 0.0809 DCM
LVNC
Literature None
178 75 A/S 158 None 0.0809 None gnomAD-4.0.0 1.59045E-06
178 75 A/V 158 rs1304644881 0.0809 None gnomAD-3.1.2 6.57E-06
178 75 A/V 158 rs1304644881 0.0809 None gnomAD-4.0.0 8.05436E-06
179 76 T/A 159 rs1453734474 0.2150 None gnomAD-2.1.1 3.98E-06
179 76 T/A 159 rs1453734474 0.2150 None gnomAD-4.0.0 2.73623E-06
180 77 N/S 161 rs568119356 0.0851 None gnomAD-2.1.1 2.39E-05
180 77 N/S 161 rs568119356 0.0851 None gnomAD-3.1.2 1.97E-05
180 77 N/S 161 rs568119356 0.0851 None 1000 genomes 3.99361E-04
180 77 N/S 161 rs568119356 0.0851 None gnomAD-4.0.0 1.23903E-05
181 78 S/N 162 rs72647843 0.5004 None gnomAD-2.1.1 5.7996E-03
181 78 S/N 162 rs72647843 0.5004 None gnomAD-3.1.2 1.64213E-02
181 78 S/N 162 rs72647843 0.5004 None 1000 genomes 1.81709E-02
181 78 S/N 162 rs72647843 0.5004 None gnomAD-4.0.0 3.19547E-03
181 78 S/R 162 None 0.5004 None gnomAD-4.0.0 6.84065E-07
181 78 S/T 162 None 0.5004 None gnomAD-4.0.0 6.8406E-07
182 79 V/A 163 rs779093531 0.3483 None gnomAD-2.1.1 7.96E-06
182 79 V/A 163 rs779093531 0.3483 None gnomAD-3.1.2 6.57E-06
182 79 V/A 163 rs779093531 0.3483 None gnomAD-4.0.0 6.19593E-06
182 79 V/G 163 None 0.3483 None gnomAD-4.0.0 6.84062E-07
182 79 V/I 163 rs370941860 0.3483 None gnomAD-2.1.1 1.59E-05
182 79 V/I 163 rs370941860 0.3483 None gnomAD-3.1.2 1.97E-05
182 79 V/I 163 rs370941860 0.3483 None gnomAD-4.0.0 1.05326E-05
183 80 G/R 164 rs757439753 0.1905 None gnomAD-2.1.1 1.19E-05
183 80 G/R 164 rs757439753 0.1905 None gnomAD-3.1.2 6.57E-06
183 80 G/R 164 rs757439753 0.1905 None gnomAD-4.0.0 1.11522E-05
185 82 A/S 166 rs2094001955 0.1110 None gnomAD-3.1.2 6.57E-06
185 82 A/S 166 rs2094001955 0.1110 None gnomAD-4.0.0 6.57013E-06
185 82 A/V 166 None 0.1110 None gnomAD-4.0.0 1.59047E-06
186 83 T/A 168 rs1486250871 0.3294 None gnomAD-3.1.2 6.57E-06
186 83 T/A 168 rs1486250871 0.3294 None gnomAD-4.0.0 6.5697E-06
186 83 T/S 168 rs1184900499 0.3294 None gnomAD-4.0.0 1.59047E-06
187 84 S/L 169 rs754029303 0.0817 None gnomAD-2.1.1 1.06E-05
187 84 S/L 169 rs754029303 0.0817 None gnomAD-3.1.2 6.57E-06
187 84 S/L 169 rs754029303 0.0817 None gnomAD-4.0.0 8.05453E-06
188 85 T/A 171 rs1207248463 0.3406 None gnomAD-2.1.1 3.98E-06
188 85 T/A 171 rs1207248463 0.3406 None gnomAD-4.0.0 1.36813E-06
188 85 T/I 171 rs1470901624 0.3406 None gnomAD-3.1.2 6.57E-06
188 85 T/I 171 rs1470901624 0.3406 None gnomAD-4.0.0 2.47829E-06
189 86 A/G 172 rs1261657168 0.1117 None gnomAD-2.1.1 7.96E-06
189 86 A/G 172 rs1261657168 0.1117 None gnomAD-4.0.0 4.78847E-06
189 86 A/S 172 rs794729610 0.1117 None gnomAD-3.1.2 6.57E-06
189 86 A/S 172 rs794729610 0.1117 None gnomAD-4.0.0 6.57056E-06
190 87 E/D 173 rs753196873 0.2061 None gnomAD-2.1.1 7.96E-06
190 87 E/D 173 rs753196873 0.2061 None gnomAD-3.1.2 5.91E-05
190 87 E/D 173 rs753196873 0.2061 None gnomAD-4.0.0 1.36305E-05
190 87 E/Q 173 None 0.2061 None gnomAD-4.0.0 1.59053E-06
192 89 L/M 175 None 0.4143 None gnomAD-4.0.0 6.84072E-07
192 89 L/R 175 rs1375853157 0.4143 None gnomAD-3.1.2 6.57E-06
192 89 L/R 175 rs1375853157 0.4143 None gnomAD-4.0.0 2.56104E-06
193 90 V/F 177 None 0.1068 None gnomAD-4.0.0 1.20032E-06