UniProt ID :
P49768
Protein :
Presenilin-1
Gene :
PSEN1
Pathway :
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Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
35 | R → Q | Low | Medium | -- | Low |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
79 | A → V | Low | High | -- | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
82 | V → L | Low | High | -- | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
83 | I → T | Low | High | -- | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
85 | L → P | Low | High | -- | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
89 | V → L | Low | High | -- | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
92 | C → S | Low | High | -- | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
94 | V → M | Low | High | -- | Low |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
96 | V → F | Low | High | -- | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
97 | V → L | Low | High | -- | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
105 | F → L | Low | High | -- | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
113 | L → P | Low | High | -- | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
115 | Y → C | Low | High | -- | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
115 | Y → H | Low | High | -- | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
116 | T → I | Low | High | -- | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
116 | T → N | Low | High | -- | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
117 | P → L | Low | High | -- | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
117 | P → S | Low | High | -- | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
120 | E → D | Low | High | -- | Low |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
120 | E → K | Low | High | -- | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
134 | L → R | Low | High | -- | Low |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
135 | N → D | Low | High | -- | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
139 | M → I | Low | High | -- | Low |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
139 | M → K | Low | High | -- | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
139 | M → T | Low | High | -- | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
139 | M → V | Low | High | -- | Low |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
142 | V → F | Low | High | -- | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
143 | I → F | Low | High | -- | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
143 | I → T | Low | High | -- | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
146 | M → I | Low | High | -- | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
146 | M → L | Low | High | -- | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
146 | M → V | Low | High | -- | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
147 | T → I | Low | High | -- | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
153 | L → V | Low | High | -- | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
154 | Y → C | Low | High | -- | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
154 | Y → N | Low | High | -- | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
156 | Y → FTY | Low | No Family | -- | -- |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
159 | Y → F | Low | High | -- | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
163 | H → R | Low | High | -- | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
163 | H → Y | Low | High | -- | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
165 | W → C | Low | High | -- | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
166 | L → P | Low | High | -- | -- |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
168 | Missing | -- | No Family | -- | -- |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
169 | S → L | Low | High | -- | -- |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
169 | S → P | Low | High | -- | -- |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
170 | S → F | Low | High | -- | -- |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
171 | L → P | Low | High | -- | -- |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
173 | L → W | Low | High | -- | -- |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
174 | L → M | Low | High | -- | -- |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
177 | F → L | Low | High | -- | -- |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
35 | R → Q | Low | Medium | Low | Low |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
79 | A → V | Low | High | Medium | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
82 | V → L | Low | High | Medium | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
83 | I → T | Low | High | Medium | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
85 | L → P | Low | High | Medium | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
89 | V → L | Low | High | Medium | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
92 | C → S | Low | High | Medium | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
94 | V → M | Low | High | Low | Low |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
96 | V → F | Low | High | High | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
97 | V → L | Low | High | Medium | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
105 | F → L | Low | High | Low | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
113 | L → P | Low | High | Medium | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
115 | Y → C | Low | High | High | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
115 | Y → H | Low | High | High | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
116 | T → I | Low | High | Medium | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
116 | T → N | Low | High | Medium | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
117 | P → L | Low | High | Medium | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
117 | P → S | Low | High | Medium | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
120 | E → D | Low | High | Medium | Low |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
120 | E → K | Low | High | Medium | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
134 | L → R | Low | High | Medium | Low |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
135 | N → D | Low | High | Medium | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
139 | M → I | Low | High | Low | Low |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
139 | M → K | Low | High | Medium | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
139 | M → T | Low | High | Medium | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
139 | M → V | Low | High | Low | Low |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
142 | V → F | Low | High | Medium | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
143 | I → F | Low | High | Medium | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
143 | I → T | Low | High | Medium | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
146 | M → I | Low | High | Medium | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
146 | M → L | Low | High | Medium | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
146 | M → V | Low | High | Low | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
147 | T → I | Low | High | Medium | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
153 | L → V | Low | High | Medium | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
154 | Y → C | Low | High | High | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
154 | Y → N | Low | High | High | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
159 | Y → F | Low | High | Medium | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
163 | H → R | Low | High | Low | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
163 | H → Y | Low | High | Low | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
165 | W → C | Low | High | High | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
166 | L → P | Low | High | Medium | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
169 | S → L | Low | High | High | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
169 | S → P | Low | High | High | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
170 | S → F | Low | High | Medium | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
171 | L → P | Low | High | Medium | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
173 | L → W | Low | High | Medium | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
174 | L → M | Low | High | High | Low |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
177 | F → L | Low | High | Low | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
177 | F → S | Low | High | Medium | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
178 | S → P | Low | High | Medium | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
183 | G → V | Low | High | Low | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
184 | E → D | Low | High | Medium | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
205 | F → L | Low | High | Medium | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
206 | G → A | Low | High | Low | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
206 | G → D | Low | High | Medium | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
206 | G → S | Low | High | Medium | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
209 | G → E | Low | High | Medium | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
209 | G → R | Low | High | High | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
209 | G → V | Low | High | High | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
213 | I → L | Low | High | Medium | Low |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
213 | I → T | Low | High | Medium | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
214 | H → Y | Low | High | Medium | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
217 | G → R | Low | High | Medium | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
219 | L → P | Low | High | Medium | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
222 | Q → R | Low | High | Medium | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
229 | I → F | Low | High | Medium | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
231 | A → T | Low | High | Medium | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
231 | A → V | Low | High | Low | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
233 | M → L | Low | High | Low | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
233 | M → T | Low | High | Low | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
235 | L → P | Low | High | Medium | High |
Position | Description | Servers |
---|
PolyPhen-2 | Panther | MutationAssessor | Provean |
235 | L → R | Low | High | Medium | High |