Q8WWF3
Gene name |
SSMEM1 (C7orf45) |
Protein name |
Serine-rich single-pass membrane protein 1 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:136263 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q8WWF3
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8WWF3-F1 | Predicted | AlphaFoldDB |
210 variants for Q8WWF3
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs756675106 CA4483023 |
3 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750500555 CA4483022 |
3 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs749707311 CA4483025 |
4 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA4483026 rs749707311 |
4 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA4483027 rs779288452 |
5 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA369288120 rs868126292 |
6 | S>C | No |
ClinGen gnomAD |
|
|
CA166906469 rs868126292 |
6 | S>F | No |
ClinGen gnomAD |
|
|
CA369288128 rs1397641705 |
7 | L>F | No |
ClinGen gnomAD |
|
|
CA4483028 rs746675089 |
8 | F>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 8 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4483030 rs776336519 |
9 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs770643207 CA4483029 |
9 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA369288142 rs770643207 |
9 | W>L | No |
ClinGen ExAC gnomAD |
|
|
rs111931380 CA166906485 |
10 | E>G | No |
ClinGen TOPMed |
|
|
rs111931380 CA369288149 |
10 | E>V | No |
ClinGen TOPMed |
|
|
rs759093657 CA4483031 |
12 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA166906496 rs778451243 |
13 | P>S | No |
ClinGen Ensembl |
|
|
rs186454728 CA4483032 |
14 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs371191805 CA166906502 |
14 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs766775566 CA369288177 |
15 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs766775566 CA369288179 |
15 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA166906503 rs766775566 |
15 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs148378256 CA4483033 |
16 | I>V | No |
ClinGen ESP ExAC TOPMed |
|
|
rs140531337 CA4483034 |
18 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140531337 CA369288222 |
18 | V>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA369288213 rs1229875147 |
18 | V>I | No |
ClinGen gnomAD |
|
|
rs763806644 CA4483035 |
20 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1584710071 CA369288246 |
20 | C>Y | No |
ClinGen Ensembl |
|
|
rs1455695246 CA369288258 |
21 | A>T | No |
ClinGen TOPMed |
|
|
CA369288262 rs1236746023 |
21 | A>V | No |
ClinGen TOPMed |
|
|
rs751298433 CA4483036 |
24 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 26 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1461391100 CA369288347 |
27 | Y>* | No |
ClinGen gnomAD |
|
|
CA4483037 rs762087081 |
27 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369288356 rs1240727416 |
28 | E>A | No |
ClinGen gnomAD |
|
|
rs372434401 CA4483038 |
28 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1193429473 CA369288369 |
29 | C>R | No |
ClinGen gnomAD |
|
|
rs1475269393 CA369288396 |
30 | W>* | No |
ClinGen gnomAD |
|
|
CA369288400 rs1475269393 |
30 | W>C | No |
ClinGen gnomAD |
|
|
rs780147118 CA4483041 |
32 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA166906544 rs968341925 |
33 | D>N | No |
ClinGen Ensembl |
|
|
CA369288454 rs1432006125 |
34 | S>F | No |
ClinGen gnomAD |
|
|
rs377008348 CA4483043 |
35 | C>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA369288458 rs1470344913 |
35 | C>R | No |
ClinGen gnomAD |
|
|
CA4483044 rs779152211 |
37 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs977079440 CA166906550 |
38 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1319192476 CA369288489 |
38 | I>V | No |
ClinGen gnomAD |
|
|
rs1285121537 CA369288536 |
44 | W>C | No |
ClinGen gnomAD |
|
|
CA369288529 rs1306836994 |
44 | W>R | No |
ClinGen TOPMed |
|
|
CA369288542 rs1324275398 |
45 | Y>C | No |
ClinGen gnomAD |
|
|
rs1584710193 CA369288537 |
45 | Y>H | No |
ClinGen Ensembl |
|
| TCGA novel | 46 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 46 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369288564 rs1445717237 |
47 | V>I | No |
ClinGen TOPMed |
|
|
CA4483047 rs759075254 |
48 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1085500 CA4483049 rs764983904 |
49 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 53 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4483050 rs775003462 |
53 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1205390295 CA369288653 |
54 | F>L | No |
ClinGen gnomAD |
|
|
rs1394216169 CA369288763 |
61 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs779494195 CA4483071 |
62 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369289020 rs779494195 |
62 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1486665391 CA369289029 |
63 | S>A | No |
ClinGen TOPMed |
|
|
CA166910171 rs908093876 |
65 | D>N | No |
ClinGen Ensembl |
|
|
CA369289074 rs1266299935 |
66 | K>R | No |
ClinGen TOPMed |
|
|
rs1420962974 CA369289096 |
67 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs748815761 CA4483073 |
71 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA4483074 rs768526884 |
72 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs940965147 CA166910185 |
74 | S>I | No |
ClinGen gnomAD |
|
|
CA369289186 rs940965147 |
74 | S>N | No |
ClinGen gnomAD |
|
|
CA4483078 rs375103737 |
75 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM3674827 CA4483077 rs375103737 |
75 | T>S | prostate [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA369289208 rs1301226936 |
76 | S>A | No |
ClinGen gnomAD |
|
|
rs1584713820 CA369289214 |
76 | S>L | No |
ClinGen Ensembl |
|
|
CA369289222 rs1584713837 |
77 | V>E | No |
ClinGen Ensembl |
|
|
CA4483079 rs760813474 |
78 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1451502645 CA369289685 |
80 | A>V | No |
ClinGen TOPMed |
|
|
rs796391280 CA4483104 |
81 | S>R | No |
ClinGen TOPMed |
|
|
rs1584715557 CA369289706 |
83 | E>G | No |
ClinGen Ensembl |
|
|
rs1469538368 CA369289715 |
85 | S>T | No |
ClinGen TOPMed |
|
|
rs1409447955 CA369289734 |
86 | C>Y | No |
ClinGen gnomAD |
|
|
rs138196558 CA4483108 |
88 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4483107 VAR_029873 rs4728190 |
88 | R>W | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs767735134 CA4483110 |
91 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA369289806 rs1271897343 |
91 | K>R | No |
ClinGen TOPMed |
|
|
rs1169682645 CA369289817 |
92 | D>H | No |
ClinGen gnomAD |
|
|
CA166911828 rs939163043 |
95 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA166911820 rs886231976 |
95 | W>* | No |
ClinGen TOPMed |
|
|
CA4483111 rs757103154 |
98 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369289913 rs754566893 |
99 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA4483112 rs754566893 |
99 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA4483113 rs778403297 |
101 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1313845671 CA369289965 |
102 | K>N | No |
ClinGen gnomAD |
|
|
CA369289989 rs1450063119 |
104 | P>Q | No |
ClinGen gnomAD |
|
|
CA4483115 rs758391833 |
106 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777668329 CA4483116 |
107 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs373212095 CA4483117 |
108 | Q>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1012435334 CA166911866 |
108 | Q>H | No |
ClinGen TOPMed |
|
|
CA166911865 rs373212095 |
108 | Q>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA369290037 rs1316663250 |
108 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs770779506 CA4483118 |
110 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA369290058 rs1263881807 |
112 | V>I | No |
ClinGen gnomAD |
|
|
CA4483121 rs770136220 |
115 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs746103152 CA4483120 |
115 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA4483122 rs376191555 |
116 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA369290108 rs1562907669 |
118 | A>G | No |
ClinGen Ensembl |
|
|
rs1446460169 CA369290135 |
122 | A>G | No |
ClinGen gnomAD |
|
|
rs868320037 CA166911928 |
123 | Y>C | No |
ClinGen TOPMed |
|
|
CA369290136 rs1177033442 |
123 | Y>N | No |
ClinGen gnomAD |
|
|
rs1193793367 CA369290149 |
125 | E>K | No |
ClinGen TOPMed |
|
|
CA369290158 rs762179379 |
126 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA4483127 rs762179379 |
126 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs138051879 COSM1085503 CA4483128 |
128 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4483130 rs759255478 |
128 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4483131 rs759255478 |
128 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA166911974 rs919147087 |
129 | A>P | No |
ClinGen Ensembl |
|
|
CA4483132 rs752255615 |
131 | R>C | No |
ClinGen ExAC gnomAD |
|
|
COSM1330081 rs191908225 CA4483134 |
131 | R>H | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4483133 rs752255615 |
131 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA4483136 rs751525166 |
132 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs751525166 CA4483135 |
132 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1407338350 CA369290216 |
135 | F>L | No |
ClinGen gnomAD |
|
|
rs1284440830 CA369290232 |
136 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA369290229 rs1344219227 |
136 | N>Y | No |
ClinGen TOPMed |
|
|
rs781108049 CA4483137 |
137 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4483139 rs756452743 |
138 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs139029254 CA4483140 |
140 | Q>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4483141 rs749482804 |
142 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs768880751 CA4483142 |
142 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA369290319 rs1356442059 |
143 | H>R | No |
ClinGen TOPMed |
|
|
rs1280768316 CA369290330 |
144 | D>G | No |
ClinGen gnomAD |
|
|
rs1200094246 CA369290337 |
145 | S>R | No |
ClinGen gnomAD |
|
|
rs748693465 CA4483144 |
147 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4483145 rs376077146 |
148 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4483146 rs369782854 |
148 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA166912065 rs878986332 |
153 | E>G | No |
ClinGen Ensembl |
|
|
rs144099660 CA4483150 |
154 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs920570977 CA369290440 |
154 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA4483149 rs144099660 |
154 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763661744 CA4483151 |
157 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369290476 rs763661744 |
157 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 158 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369290516 rs1455293522 |
160 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
CA369290534 rs1441615486 |
161 | S>L | No |
ClinGen TOPMed |
|
|
rs1434929725 CA369290588 CA369290587 |
163 | K>N | No |
ClinGen gnomAD |
|
|
rs757276583 CA4483153 |
163 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs201447540 CA166912119 |
164 | E>D | No |
ClinGen 1000Genomes |
|
|
CA166912118 rs983488980 |
164 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA4483154 rs767334438 |
164 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs750282781 CA4483155 |
165 | S>G | No |
ClinGen ExAC |
|
|
rs76189869 CA4483156 |
167 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA166912139 rs939280722 |
168 | E>G | No |
ClinGen TOPMed |
|
|
CA369290703 rs1285419873 |
169 | H>P | No |
ClinGen TOPMed |
|
|
CA4483157 rs779947672 |
170 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369290721 rs779947672 |
170 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 174 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA166912169 rs894992391 |
174 | D>N | No |
ClinGen TOPMed |
|
|
rs749535953 CA4483159 |
175 | S>T | No |
ClinGen ExAC |
|
|
CA369290851 rs755089361 |
178 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA4483162 rs779119799 |
179 | R>T | No |
ClinGen ExAC |
|
|
CA166912200 rs760797706 |
180 | K>E | No |
ClinGen Ensembl |
|
|
CA4483163 rs748166898 |
180 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA4483164 rs142633639 |
183 | Q>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA166912216 rs766518088 |
186 | R>S | No |
ClinGen Ensembl |
|
|
CA369290993 rs532958163 |
189 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs532958163 CA166912218 |
189 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1315126882 CA369291030 |
192 | Q>P | No |
ClinGen TOPMed |
|
|
rs1418432704 CA369291044 |
193 | M>K | No |
ClinGen TOPMed |
|
|
CA4483166 rs150765653 |
194 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs189237675 CA4483167 |
195 | E>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs189237675 CA166912219 |
195 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs771295690 CA4483168 |
198 | C>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 201 | C>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 205 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs114560708 CA4483169 |
206 | T>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs373382166 CA4483171 |
208 | E>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs373382166 CA4483172 |
208 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4483173 rs761196314 |
209 | W>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761196314 CA369291219 |
209 | W>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1584715992 CA369291231 |
210 | L>W | No |
ClinGen Ensembl |
|
|
rs1216663006 CA369291237 |
211 | A>T | No |
ClinGen TOPMed |
|
|
CA4483174 rs144037821 |
211 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1584716013 CA369291250 |
212 | H>P | No |
ClinGen Ensembl |
|
|
rs200313957 CA166912272 |
212 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1295513244 CA369291266 |
213 | H>Q | No |
ClinGen TOPMed |
|
|
rs1584716030 CA369291270 |
214 | S>P | No |
ClinGen Ensembl |
|
|
rs146470357 CA4483177 |
215 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140752649 CA4483178 |
215 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs755290556 CA4483179 |
216 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA166912282 rs969892562 |
216 | Q>R | No |
ClinGen gnomAD |
|
|
CA369291293 rs1273565896 |
218 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4483181 rs752865833 |
220 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1584716053 CA369291310 |
221 | T>P | No |
ClinGen Ensembl |
|
|
CA4483184 rs149669717 |
222 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1404413432 CA369291317 |
222 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA166912303 rs1053160508 |
223 | P>L | No |
ClinGen Ensembl |
|
|
CA166912314 TCGA novel rs866018205 |
224 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1274904390 CA369291335 |
225 | K>Q | No |
ClinGen gnomAD |
|
|
rs781590501 CA4483186 |
226 | R>I | No |
ClinGen ExAC gnomAD |
|
|
CA166912334 rs267601283 |
231 | E>K | No |
ClinGen Ensembl |
|
|
CA4483187 rs377383665 |
232 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4483188 rs768395125 |
233 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs761477001 CA4483190 |
234 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1408358468 CA369291428 |
238 | N>D | No |
ClinGen gnomAD |
|
|
rs199661470 CA4483191 |
238 | N>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 240 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1338504931 CA369291448 |
240 | K>N | No |
ClinGen gnomAD |
|
|
CA369291453 rs1584716134 |
241 | F>Y | No |
ClinGen Ensembl |
|
|
CA369291462 rs1486785261 |
242 | S>N | No |
ClinGen TOPMed |
|
|
rs1584716170 CA369291499 |
245 | F>C | No |
ClinGen Ensembl |
No associated diseases with Q8WWF3
No regional properties for Q8WWF3
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q8WWF3 | |||
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGDLFSLFWE | VDPPPIPVNC | AIPNQDYECW | KDDSCGTIGS | FLLWYFVIVF | VLMFFSRASV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| WMSEDKKDEG | SGTSTSVRKA | SKETSCKRQS | KDSAWDPSQT | MKKPKQNQLT | PVTNSEVALV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NAYPEQRRAR | RQSQFNEVNQ | NQHDSDTTEY | GSEESNSEAS | SWKESESEHH | PSPDSIKRRK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| MAQRQRNLGS | YQMSERHCLH | CKALRTNEWL | AHHSRQKPSV | TPPMKRDSQE | ESSISDINKK |
| FSKF |