Q8WVP7
PR
Gene name |
LMBR1 (C7orf2, DIF14) |
Protein name |
Limb region 1 protein homolog |
Names |
Differentiation-related gene 14 protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:64327 |
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 Q8WVP7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8WVP7-F1 | Predicted | AlphaFoldDB |
374 variants for Q8WVP7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000291723 rs139646169 CA4588287 RCV002519504 RCV000598270 |
6 | E>K | Inborn genetic diseases Polydactyly of a triphalangeal thumb [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000383646 CA4588277 rs147215221 CA4588278 |
18 | V>L | Polydactyly of a triphalangeal thumb [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs367632078 CA4588272 RCV000331447 |
21 | S>T | Polydactyly of a triphalangeal thumb [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs886062121 RCV000389440 CA10628647 |
80 | F>L | Polydactyly of a triphalangeal thumb [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002523589 CA4588154 rs568570543 RCV000332422 |
117 | N>S | Inborn genetic diseases Polydactyly of a triphalangeal thumb [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA4588096 rs756376000 RCV001163600 |
174 | N>K | Polydactyly of a triphalangeal thumb [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000395510 CA4588093 rs148974610 |
177 | A>T | Polydactyly of a triphalangeal thumb [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs201194692 RCV000359894 CA4588040 RCV001861301 |
222 | Q>P | Polydactyly of a triphalangeal thumb [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_031900 RCV000307548 RCV001535352 rs6957768 CA4588036 |
228 | T>A | Polydactyly of a triphalangeal thumb [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM1087886 rs182641358 CA4587968 RCV000395503 |
257 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium Polydactyly of a triphalangeal thumb [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1816107259 RCV001160228 |
308 | S>L | Polydactyly of a triphalangeal thumb [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10623532 rs886062120 RCV000295917 |
371 | F>V | Polydactyly of a triphalangeal thumb [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA4587749 RCV000373403 rs140722848 |
467 | L>V | Polydactyly of a triphalangeal thumb [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs537237432 CA4588290 |
3 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs752211706 CA4588289 |
3 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs537237432 CA370141315 |
3 | G>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs764840725 CA4588288 |
5 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA370141303 rs764840725 |
5 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs931898966 CA169829421 |
6 | E>V | No |
ClinGen gnomAD |
|
|
CA4588286 rs776745429 |
8 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA4588284 rs760438533 |
9 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773048809 CA4588283 |
9 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772250880 CA4588282 |
10 | R>Q | No |
ClinGen ExAC |
|
|
rs1233785171 CA370141272 |
11 | E>K | No |
ClinGen TOPMed |
|
|
CA4588281 rs748407183 |
12 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA4588280 rs779049387 |
13 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA370141238 rs1185781023 |
15 | H>P | No |
ClinGen gnomAD |
|
|
CA4588279 rs768746253 |
17 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs147215221 CA4588276 |
18 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781612611 CA169829411 |
20 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs781612611 CA4588274 |
20 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4588271 rs764947202 |
22 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA170064685 rs201837108 |
23 | I>V | No |
ClinGen gnomAD |
|
|
CA370206050 rs1345737927 |
24 | C>R | No |
ClinGen gnomAD |
|
|
CA4588243 rs377125442 |
26 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4588242 rs775620717 |
30 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA170064659 rs896000584 |
31 | L>P | No |
ClinGen Ensembl |
|
|
rs143018746 CA4588240 |
32 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370205995 rs1428338206 |
32 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA370205994 rs1428338206 |
32 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
rs777239332 CA370205991 |
33 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777239332 CA4588239 COSM1087891 |
33 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA370205950 rs1392705978 |
39 | I>V | No |
ClinGen gnomAD |
|
|
CA170064647 rs754605993 |
40 | T>R | No |
ClinGen Ensembl |
|
|
rs1433375243 CA370205935 |
41 | R>S | No |
ClinGen gnomAD |
|
|
rs1281775073 CA370205926 |
42 | Y>* | No |
ClinGen gnomAD |
|
|
CA4588236 rs778280366 |
44 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA370205911 rs1487022830 |
45 | K>E | No |
ClinGen gnomAD |
|
|
CA370205867 rs1392587221 |
49 | Q>* | No |
ClinGen gnomAD |
|
|
rs1443071553 CA370205849 |
51 | D>G | No |
ClinGen TOPMed |
|
|
rs1265166684 CA370205844 |
52 | E>Q | No |
ClinGen gnomAD |
|
|
rs987719507 CA170062966 |
53 | D>N | No |
ClinGen Ensembl |
|
|
CA4588203 rs529634450 |
55 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA170062933 rs771481264 |
56 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA170062929 rs954506791 |
59 | I>L | No |
ClinGen TOPMed |
|
|
CA370205798 rs954506791 |
59 | I>V | No |
ClinGen TOPMed |
|
|
COSM1087890 CA4588201 rs765557728 |
60 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1239135194 CA370205774 |
61 | L>W | No |
ClinGen TOPMed |
|
|
RCV000313355 rs886042212 |
61 | L>missing | No |
ClinVar dbSNP |
|
|
rs754746046 CA4588183 |
62 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1168058405 CA579057504 |
63 | L>N* | No |
ClinGen gnomAD |
|
|
rs1346708447 CA370205755 |
64 | S>C | No |
ClinGen gnomAD |
|
|
rs754031706 CA4588182 |
65 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA370205723 rs752539800 |
69 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752539800 CA4588180 |
69 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750507899 CA4588179 |
70 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768196611 CA4588178 |
72 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1416198782 CA370205700 |
73 | G>E | No |
ClinGen gnomAD |
|
|
rs1416198782 CA370205698 |
73 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1586064251 CA370205687 |
75 | V>G | No |
ClinGen Ensembl |
|
|
rs1007147882 CA169827526 |
79 | P>S | No |
ClinGen Ensembl |
|
|
CA4588173 rs369093558 |
80 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1233438390 CA370205650 |
81 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs770537220 CA4588171 |
82 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1278970681 CA370205632 |
84 | S>N | No |
ClinGen gnomAD |
|
|
CA370205635 rs1443573243 |
84 | S>R | No |
ClinGen gnomAD |
|
|
CA370205619 rs1337917129 |
86 | E>K | No |
ClinGen gnomAD |
|
|
rs1355411992 CA370205594 |
89 | L>R | No |
ClinGen gnomAD |
|
|
rs1563464520 CA370205599 |
89 | L>V | No |
ClinGen Ensembl |
|
| TCGA novel | 90 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1329133827 CA370205574 |
92 | P>L | No |
ClinGen TOPMed |
|
|
CA370205571 rs1291917188 |
93 | Q>* | No |
ClinGen gnomAD |
|
|
CA4588167 rs748052405 |
94 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA370205554 rs1359810496 |
95 | Y>C | No |
ClinGen gnomAD |
|
|
CA4588165 rs754763256 |
96 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778862287 CA370205550 |
96 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs778862287 CA4588166 |
96 | Y>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 97 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370205537 rs1402673877 |
98 | Q>E | No |
ClinGen gnomAD |
|
|
rs749078736 CA4588164 |
100 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 104 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4588163 rs536909090 |
106 | H>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1586063512 CA370205481 |
106 | H>R | No |
ClinGen Ensembl |
|
|
CA370205483 rs536909090 |
106 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA370205476 rs369354246 |
107 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369354246 CA4588162 |
107 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1440049838 CA370205432 |
110 | N>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1332215021 CA370205426 |
110 | N>K | No |
ClinGen gnomAD |
|
|
CA4588156 rs764618320 |
110 | N>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 111 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1563381208 CA370205422 |
111 | L>P | No |
ClinGen Ensembl |
|
|
CA370205416 rs1563381155 |
112 | A>G | No |
ClinGen Ensembl |
|
|
rs1447325976 CA370205419 |
112 | A>P | No |
ClinGen gnomAD |
|
| TCGA novel | 116 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 116 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 117 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4588152 rs766091213 |
118 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA370205372 rs1178863589 |
119 | C>F | No |
ClinGen gnomAD |
|
|
rs772797032 CA4588150 |
121 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs771506654 CA4588149 |
122 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs771506654 CA370205352 |
122 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1022908866 CA169823990 |
133 | S>* | No |
ClinGen gnomAD |
|
|
CA370205247 rs1370035308 |
137 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA370205241 rs1291603959 |
138 | G>S | No |
ClinGen gnomAD |
|
|
CA4588143 rs769643837 |
140 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA4588141 rs187256493 |
141 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4588122 rs771159834 |
142 | G>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 142 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4588121 rs747128466 |
142 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs777915846 CA4588120 |
143 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA4588119 rs758355870 |
144 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA4588118 rs201739279 |
144 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200558566 CA169820327 |
145 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1200156705 CA370205181 |
146 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA4588115 COSM1087888 rs754181857 |
146 | R>H | endometrium Variant assessed as Somatic; 0.0001404 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1449557838 CA370205155 |
150 | T>A | No |
ClinGen gnomAD |
|
|
CA370205151 rs1483238603 |
150 | T>I | No |
ClinGen TOPMed |
|
|
rs763674051 CA370205146 CA246799 RCV000179524 |
151 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD NCI-TCGA |
|
rs1263580061 CA370205148 |
151 | L>S | No |
ClinGen Ensembl |
|
|
rs751104463 CA4588112 |
151 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA169820326 rs145045413 |
152 | V>I | No |
ClinGen 1000Genomes gnomAD |
|
|
rs775595886 CA4588110 |
153 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs762502936 CA4588111 |
153 | M>V | No |
ClinGen ExAC gnomAD |
|
|
RCV000087237 CA229177 rs483352752 |
154 | L>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA370205122 rs1180731210 |
156 | L>I | No |
ClinGen gnomAD |
|
|
rs776470632 CA169820325 |
158 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1418410790 CA370205109 |
158 | A>P | No |
ClinGen TOPMed |
|
|
rs1418410790 CA370205110 |
158 | A>T | No |
ClinGen TOPMed |
|
|
rs776470632 CA4588106 |
158 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1198850228 CA370205084 |
162 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1414481090 CA370205063 |
165 | V>A | No |
ClinGen TOPMed |
|
|
CA370205058 rs1244892651 |
166 | W>* | No |
ClinGen gnomAD |
|
|
rs773262138 CA4588104 |
166 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs773262138 CA4588103 |
166 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs1244892651 CA370205056 |
166 | W>L | No |
ClinGen gnomAD |
|
|
CA4588102 rs772174594 |
167 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA370205054 rs1306708103 |
167 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1306708103 CA370205052 |
167 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA4588100 rs779445709 |
170 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1448926584 CA370205030 |
171 | L>F | No |
ClinGen TOPMed |
|
|
rs755466895 CA4588099 |
171 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs1448926584 CA370205032 |
171 | L>V | No |
ClinGen TOPMed |
|
|
rs149171555 CA4588098 |
172 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1585635303 CA370205017 |
173 | D>G | No |
ClinGen Ensembl |
|
|
COSM1739387 CA169820323 rs1027367161 |
175 | D>N | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1276487383 CA370204974 |
179 | M>I | No |
ClinGen TOPMed |
|
|
CA4588092 rs138964269 |
179 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4588091 rs138964269 |
179 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759554435 CA4588090 |
182 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs776377614 CA4588089 |
183 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs758107963 CA4588075 |
185 | L>R | No |
ClinGen ExAC gnomAD |
|
|
TCGA novel rs752463239 CA169820278 |
186 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen Ensembl |
|
rs1379135669 CA370204913 |
187 | E>K | No |
ClinGen gnomAD |
|
|
rs1199542400 CA370204874 |
192 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA169820276 rs980479868 |
197 | I>L | No |
ClinGen TOPMed |
|
|
CA370204836 rs1260874225 COSM382530 |
197 | I>M | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA370204841 rs980479868 |
197 | I>V | No |
ClinGen TOPMed |
|
|
CA169820275 rs573615009 |
200 | M>R | No |
ClinGen gnomAD |
|
|
rs1488328249 CA370204811 |
201 | G>E | No |
ClinGen gnomAD |
|
|
rs1455915226 CA370204804 |
202 | C>Y | No |
ClinGen gnomAD |
|
|
CA4588074 rs752319315 |
204 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA370204786 rs1347623645 |
205 | L>V | No |
ClinGen gnomAD |
|
|
rs1473454383 CA370204755 |
208 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA370204753 rs1368752969 |
208 | C>Y | No |
ClinGen gnomAD |
|
|
rs761544977 CA4588048 |
211 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1456757055 CA370204728 |
212 | G>D | No |
ClinGen gnomAD |
|
|
CA4588046 rs764269813 |
214 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763139081 CA4588045 |
215 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4588044 rs775415352 |
215 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770397280 CA4588043 |
216 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759962331 CA4588042 |
216 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1308864480 CA370204694 |
218 | T>A | No |
ClinGen gnomAD |
|
|
CA370204687 rs1238203816 |
219 | V>M | No |
ClinGen gnomAD |
|
|
rs905115023 CA370204673 |
221 | G>R | No |
ClinGen gnomAD |
|
|
rs905115023 CA169820174 |
221 | G>S | No |
ClinGen gnomAD |
|
|
rs747351668 CA4588039 |
224 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA4588038 rs778762293 |
225 | V>A | No |
ClinGen ExAC TOPMed |
|
|
rs1321499906 CA370204649 |
225 | V>M | No |
ClinGen gnomAD |
|
|
rs1446887359 CA370204628 |
228 | T>I | No |
ClinGen TOPMed |
|
|
COSM1087887 rs1231690861 CA370155688 |
230 | L>I | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs748908835 CA4588017 |
233 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA4588018 rs772415094 |
233 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 236 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1489308734 CA370155587 |
237 | I>T | No |
ClinGen gnomAD |
|
|
CA169436249 rs1054585009 |
238 | Y>* | No |
ClinGen Ensembl |
|
|
CA4588015 rs373717180 |
239 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370561017 CA4588014 |
240 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370155542 rs1437152815 |
240 | I>M | No |
ClinGen gnomAD |
|
|
CA169436243 rs370561017 |
240 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 243 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370155515 rs1311432740 |
243 | E>Q | No |
ClinGen gnomAD |
|
|
CA4588013 rs781155753 |
244 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA4588012 rs757169155 |
245 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs746870245 CA4588011 |
246 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA4588010 rs777431087 |
247 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370155441 rs1341823492 |
249 | R>I | No |
ClinGen gnomAD |
|
|
rs752896240 CA4588008 |
250 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370155436 rs1357019505 |
250 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| rs747964556 | 253 | G>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4587971 rs772036803 |
253 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA370149165 rs1308184273 |
256 | S>P | No |
ClinGen TOPMed |
|
|
CA370149126 rs1477239939 |
259 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs756301279 CA4587965 |
260 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs780385456 CA4587966 |
260 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4587964 rs750492938 |
261 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs906392566 CA169425768 |
262 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1199161805 CA370149069 |
263 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA169425767 rs979711635 |
264 | E>G | No |
ClinGen Ensembl |
|
|
rs757777868 CA4587962 |
265 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 268 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370148953 rs1316549571 |
270 | E>D | No |
ClinGen gnomAD |
|
|
CA4587961 rs751941457 |
270 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs968780146 CA169425761 |
272 | V>I | No |
ClinGen TOPMed |
|
|
CA370148869 rs1228173830 |
274 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1228173830 CA370148866 |
274 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1450259977 CA370148754 |
278 | K>N | No |
ClinGen gnomAD |
|
|
rs1004974552 CA169425730 |
278 | K>R | No |
ClinGen TOPMed |
|
|
CA169425724 rs886430043 |
279 | L>S | No |
ClinGen TOPMed |
|
|
CA4587932 rs377662885 |
282 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146411054 CA4587931 |
282 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA370147084 rs1161089398 |
283 | K>* | No |
ClinGen gnomAD |
|
|
CA370147080 rs1446102696 |
283 | K>R | No |
ClinGen gnomAD |
|
|
rs767080458 CA4587930 |
285 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1284958731 CA370147041 |
286 | S>L | No |
ClinGen TOPMed |
|
|
CA4587929 rs761192153 |
287 | A>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 291 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs542560756 CA4587928 |
292 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4587926 rs143985651 |
293 | V>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA370146959 rs1563225257 |
293 | V>M | No |
ClinGen Ensembl |
|
| TCGA novel | 295 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4587923 rs1554488970 |
296 | A>T | No |
ClinGen Ensembl |
|
|
rs374028046 CA4587920 |
298 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370146891 rs1258629499 |
298 | M>T | No |
ClinGen TOPMed |
|
|
CA169423190 rs940802815 |
299 | V>I | No |
ClinGen TOPMed |
|
|
CA169423184 rs201891297 |
301 | L>I | No |
ClinGen 1000Genomes |
|
|
rs577202525 CA169423179 |
304 | E>K | No |
ClinGen gnomAD |
|
|
rs200717387 CA4587901 |
310 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4587900 rs200717387 |
310 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370145833 rs1414253516 |
313 | A>S | No |
ClinGen gnomAD |
|
|
CA4587899 rs747160160 |
315 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs772082498 CA4587897 |
318 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1034403166 CA169422873 |
324 | T>I | No |
ClinGen TOPMed |
|
|
CA370145667 COSM3950274 rs1486980085 |
325 | A>T | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs779252361 CA4587895 |
328 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs769108492 CA4587894 |
329 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA370145608 rs1563223351 |
329 | G>R | No |
ClinGen Ensembl |
|
|
CA370145589 rs1441618198 |
330 | T>R | No |
ClinGen gnomAD |
|
|
rs772174567 CA4587880 |
332 | G>R | No |
ClinGen ExAC |
|
|
CA370145401 rs1227413131 |
333 | P>R | No |
ClinGen gnomAD |
|
|
CA4587879 rs761853440 |
333 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749725838 COSM1662595 CA4587876 |
335 | I>V | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA370145364 rs1290794070 |
336 | G>E | No |
ClinGen TOPMed |
|
|
CA4587875 rs368074174 |
337 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370145321 rs1386486568 |
339 | S>C | No |
ClinGen TOPMed |
|
|
rs1463636730 CA370145313 |
340 | L>F | No |
ClinGen gnomAD |
|
|
rs1243498576 CA370145290 |
342 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA370145281 rs1314066185 |
342 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs866142641 CA169421987 |
344 | G>C | No |
ClinGen Ensembl |
|
| TCGA novel | 344 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370145209 rs1399908042 |
348 | A>T | No |
ClinGen gnomAD |
|
|
rs970542430 CA169421970 |
349 | A>V | No |
ClinGen gnomAD |
|
|
rs758020170 CA4587871 |
350 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 354 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370145127 rs1243701564 |
354 | L>W | No |
ClinGen TOPMed |
|
|
CA4587845 rs757422910 |
357 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1349171600 CA370145005 |
359 | M>L | No |
ClinGen gnomAD |
|
|
rs1286903647 CA370145001 |
359 | M>T | No |
ClinGen gnomAD |
|
|
rs1420529500 CA370144986 |
360 | V>M | No |
ClinGen TOPMed |
|
|
CA370144958 rs1364369738 |
362 | S>C | No |
ClinGen gnomAD |
|
|
CA370144945 rs1479193867 |
363 | V>A | No |
ClinGen gnomAD |
|
|
COSM1256532 CA4587841 rs775900111 |
365 | G>S | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA4587838 rs777140790 |
366 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA370144892 rs1486392589 |
367 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1207335628 CA370144898 |
367 | Y>H | No |
ClinGen gnomAD |
|
|
COSM1087884 rs1263101718 CA370144852 |
370 | R>* | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA370144848 rs200345135 |
370 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4587837 rs200345135 COSM356233 |
370 | R>Q | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA370144775 rs1324972936 |
374 | N>K | No |
ClinGen gnomAD |
|
|
CA370144736 rs1357184794 |
377 | P>A | No |
ClinGen TOPMed |
|
|
rs747778186 CA4587834 |
378 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1053431838 CA169421830 |
379 | K>E | No |
ClinGen Ensembl |
|
|
rs774015482 CA4587833 |
379 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs937686615 CA169421827 |
380 | D>G | No |
ClinGen Ensembl |
|
|
rs1335794635 CA370144620 |
382 | T>I | No |
ClinGen gnomAD |
|
|
rs569074168 CA4587832 |
383 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 383 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4587831 rs748813721 |
384 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780026772 CA4587830 |
386 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 387 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370144373 rs1181683607 |
387 | I>V | No |
ClinGen gnomAD |
|
|
CA370144324 rs1275235971 |
389 | G>E | No |
ClinGen gnomAD |
|
|
rs781063724 CA4587807 |
393 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA370144273 rs745824343 |
393 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4587808 rs745824343 |
393 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781063724 CA370144267 |
393 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs376693224 CA169421110 |
394 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs770670942 CA4587806 |
394 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs777912895 CA4587804 |
395 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs758641280 CA4587803 |
396 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA4587802 rs752911856 |
399 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs779158841 CA4587801 |
400 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 402 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1364634105 CA370144103 |
403 | V>G | No |
ClinGen gnomAD |
|
|
rs371100043 CA169421071 |
405 | S>L | No |
ClinGen ESP gnomAD |
|
|
rs746844459 CA4587787 |
410 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1289867336 CA370152574 |
411 | T>A | No |
ClinGen Ensembl |
|
|
CA370152569 rs1410884767 |
411 | T>S | No |
ClinGen gnomAD |
|
|
rs1480177112 CA370152532 |
414 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 414 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1427310353 CA370152521 |
415 | L>P | No |
ClinGen gnomAD |
|
|
rs1354880396 CA370152508 |
416 | L>P | No |
ClinGen TOPMed |
|
|
CA4587782 rs755161471 |
418 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA169438691 rs11540622 |
421 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780494539 CA4587780 |
421 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA4587778 rs750834412 |
423 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs767943841 CA4587777 |
424 | W>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752383962 CA370152291 |
429 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752383962 CA4587775 |
429 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs969934431 CA169438675 |
430 | I>V | No |
ClinGen gnomAD |
|
|
CA169438658 rs35641841 |
431 | V>G | No |
ClinGen Ensembl |
|
|
rs1022907818 CA169438673 |
431 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA370152267 rs1022907818 |
431 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs764846509 CA4587774 |
433 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4587773 rs145270950 |
435 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs377036782 CA4587772 |
436 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370152192 rs1404472932 |
436 | L>S | No |
ClinGen gnomAD |
|
|
CA370152179 rs1357442970 COSM3381869 |
437 | L>F | pancreas [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1433841037 CA370152140 |
440 | I>V | No |
ClinGen gnomAD |
|
|
rs1037308313 CA169438640 |
442 | T>A | No |
ClinGen Ensembl |
|
|
rs765738640 CA4587771 |
443 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA169438622 rs545988376 |
444 | L>M | No |
ClinGen Ensembl |
|
|
rs1184978850 CA370152083 |
444 | L>S | No |
ClinGen gnomAD |
|
|
rs1184978850 CA370152081 |
444 | L>W | No |
ClinGen gnomAD |
|
|
rs1476486178 CA370152069 |
445 | C>G | No |
ClinGen gnomAD |
|
|
rs1249696156 CA370152029 |
447 | V>F | No |
ClinGen gnomAD |
|
|
CA169438618 rs1004969335 |
448 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA370152017 rs1460825955 |
448 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1261163203 CA370151992 |
450 | F>L | No |
ClinGen gnomAD |
|
|
COSM1087883 rs760685039 CA4587770 |
453 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA4587769 rs772985105 |
454 | V>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 455 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 457 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772033218 CA4587768 |
458 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA4587767 rs747934626 |
459 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA370151820 rs1169651902 |
460 | K>E | No |
ClinGen TOPMed |
|
|
CA370151812 rs1363580624 |
460 | K>R | No |
ClinGen gnomAD |
|
|
rs1444445309 CA370150781 |
464 | L>F | No |
ClinGen gnomAD |
|
|
CA4587750 rs773251383 |
465 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA169436576 rs140722848 |
467 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA370150692 rs1423820835 |
468 | H>P | No |
ClinGen gnomAD |
|
|
rs1166595321 CA370150662 |
469 | L>* | No |
ClinGen gnomAD |
|
|
rs369873566 CA4587747 |
470 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4587746 rs759960113 |
471 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759960113 CA370150643 |
471 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370150631 rs1175045460 |
471 | N>S | No |
ClinGen gnomAD |
|
|
rs867219160 CA169436568 |
472 | T>I | No |
ClinGen TOPMed |
|
|
rs749544877 CA4587745 |
476 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA370150489 rs1451945196 |
478 | T>R | No |
ClinGen TOPMed |
|
|
rs775532053 CA4587743 |
479 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1489697960 CA370150394 |
481 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1316902866 CA370150264 |
487 | Q>R | No |
ClinGen gnomAD |
|
|
CA370150239 rs1302395381 |
489 | A>S | No |
ClinGen TOPMed |
|
|
CA370150220 rs1305487209 |
490 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA370150216 rs1305487209 |
490 | L>R | No |
ClinGen TOPMed gnomAD |
5 associated diseases with Q8WVP7
[MIM: 174500]: Preaxial polydactyly 2 (PPD2)
Polydactyly consists of duplication of the distal phalanx. The thumb in PPD2 is usually opposable and possesses a normal metacarpal. {ECO:0000269|PubMed:12837695}. Note=The disease is caused by variants affecting the gene represented in this entry. Disease-causing mutations are located in intron 5 of LMBR1. The mutations do not alter normal LMBR1 expression and function, but disrupt a long-range, cis-regulatory element of SHH expression contained in LMBR1 intron 5, known as ZPA regulatory sequence (ZRS). {ECO:0000269|PubMed:12837695}.
[MIM: 200500]: Acheiropody (ACHP)
Very rare condition characterized by bilateral congenital amputations of the hands and feet. The specific malformative phenotype consists of a complete amputation of the distal epiphysis of the humerus, amputation of the tibial diaphysis and aplasia of the radius, ulna, fibula and of all the bones of the hands and feet. {ECO:0000269|PubMed:11090342}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 186200]: Syndactyly 4 (SDTY4)
A form of syndactyly, a congenital anomaly of the hand or foot marked by persistence of the webbing between adjacent digits that are more or less completely attached. SDTY4 is characterized by complete bilateral syndactyly (involving all digits 1 to 5). A frequent association with polydactyly (with six metacarpals and six digits) has been reported. Feet are affected occasionally. {ECO:0000269|PubMed:18417549, ECO:0000269|PubMed:24456159}. Note=The disease is caused by variants affecting the gene represented in this entry. Disease-causing mutations consists of duplications (89-589 kb) involving the ZPA regulatory sequence (ZRS), a SHH long-range cis-regulatory element, located in LMBR1 intron 5. The mutations do not alter normal LMBR1 expression and function, but affect SHH limb expression. {ECO:0000269|PubMed:24456159}.
[MIM: 188740]: Hypoplasia or aplasia of tibia with polydactyly (THYP)
An autosomal dominant disease characterized by hypoplastic or absent tibia, and polydactyly. {ECO:0000269|PubMed:19847792, ECO:0000269|PubMed:24777739, ECO:0000269|PubMed:24965254}. Note=The disease is caused by variants affecting the gene represented in this entry. Disease-causing mutations are located in intron 5 of LMBR1. The mutations do not alter normal LMBR1 expression and function, but disrupt a long-range, cis-regulatory element of SHH expression contained in LMBR1 intron 5. {ECO:0000269|PubMed:19847792, ECO:0000269|PubMed:24777739, ECO:0000269|PubMed:24965254}.
[MIM: 135750]: Laurin-Sandrow syndrome (LSS)
A rare autosomal dominant disorder characterized by polysyndactyly of hands and/or feet, mirror image duplication of the feet, nasal defects, and loss of identity between fibula and tibia. Some patients do not have nasal abnormalities (segmental Laurin-Sandrow syndrome). {ECO:0000269|PubMed:24456159}. Note=The disease is caused by variants affecting the gene represented in this entry. Disease-causing mutations consists of duplications (16-75 kb) involving the ZPA regulatory sequence (ZRS), a SHH long-range cis-regulatory element, located in LMBR1 intron 5. The mutations do not alter normal LMBR1 expression and function, but affect SHH limb expression. {ECO:0000269|PubMed:24456159}.
Without disease ID
- Polydactyly consists of duplication of the distal phalanx. The thumb in PPD2 is usually opposable and possesses a normal metacarpal. {ECO:0000269|PubMed:12837695}. Note=The disease is caused by variants affecting the gene represented in this entry. Disease-causing mutations are located in intron 5 of LMBR1. The mutations do not alter normal LMBR1 expression and function, but disrupt a long-range, cis-regulatory element of SHH expression contained in LMBR1 intron 5, known as ZPA regulatory sequence (ZRS). {ECO:0000269|PubMed:12837695}.
- Very rare condition characterized by bilateral congenital amputations of the hands and feet. The specific malformative phenotype consists of a complete amputation of the distal epiphysis of the humerus, amputation of the tibial diaphysis and aplasia of the radius, ulna, fibula and of all the bones of the hands and feet. {ECO:0000269|PubMed:11090342}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A form of syndactyly, a congenital anomaly of the hand or foot marked by persistence of the webbing between adjacent digits that are more or less completely attached. SDTY4 is characterized by complete bilateral syndactyly (involving all digits 1 to 5). A frequent association with polydactyly (with six metacarpals and six digits) has been reported. Feet are affected occasionally. {ECO:0000269|PubMed:18417549, ECO:0000269|PubMed:24456159}. Note=The disease is caused by variants affecting the gene represented in this entry. Disease-causing mutations consists of duplications (89-589 kb) involving the ZPA regulatory sequence (ZRS), a SHH long-range cis-regulatory element, located in LMBR1 intron 5. The mutations do not alter normal LMBR1 expression and function, but affect SHH limb expression. {ECO:0000269|PubMed:24456159}.
- An autosomal dominant disease characterized by hypoplastic or absent tibia, and polydactyly. {ECO:0000269|PubMed:19847792, ECO:0000269|PubMed:24777739, ECO:0000269|PubMed:24965254}. Note=The disease is caused by variants affecting the gene represented in this entry. Disease-causing mutations are located in intron 5 of LMBR1. The mutations do not alter normal LMBR1 expression and function, but disrupt a long-range, cis-regulatory element of SHH expression contained in LMBR1 intron 5. {ECO:0000269|PubMed:19847792, ECO:0000269|PubMed:24777739, ECO:0000269|PubMed:24965254}.
- A rare autosomal dominant disorder characterized by polysyndactyly of hands and/or feet, mirror image duplication of the feet, nasal defects, and loss of identity between fibula and tibia. Some patients do not have nasal abnormalities (segmental Laurin-Sandrow syndrome). {ECO:0000269|PubMed:24456159}. Note=The disease is caused by variants affecting the gene represented in this entry. Disease-causing mutations consists of duplications (16-75 kb) involving the ZPA regulatory sequence (ZRS), a SHH long-range cis-regulatory element, located in LMBR1 intron 5. The mutations do not alter normal LMBR1 expression and function, but affect SHH limb expression. {ECO:0000269|PubMed:24456159}.
No regional properties for Q8WVP7
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q8WVP7 | |||
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| integral component of plasma membrane | The component of the plasma 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. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| transmembrane signaling receptor activity | Combining with an extracellular or intracellular signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity or state as part of signal transduction. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| embryonic digit morphogenesis | The process, occurring in the embryo, by which the anatomical structures of the digit are generated and organized. A digit is one of the terminal divisions of an appendage, such as a finger or toe. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9JIT0 | Lmbr1 | Limb region 1 protein | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEGQDEVSAR | EQHFHSQVRE | STICFLLFAI | LYVVSYFIIT | RYKRKSDEQE | DEDAIVNRIS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LFLSTFTLAV | SAGAVLLLPF | SIISNEILLS | FPQNYYIQWL | NGSLIHGLWN | LASLFSNLCL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FVLMPFAFFF | LESEGFAGLK | KGIRARILET | LVMLLLLALL | ILGIVWVASA | LIDNDAASME |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SLYDLWEFYL | PYLYSCISLM | GCLLLLLCTP | VGLSRMFTVM | GQLLVKPTIL | EDLDEQIYII |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TLEEEALQRR | LNGLSSSVEY | NIMELEQELE | NVKTLKTKLE | RRKKASAWER | NLVYPAVMVL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LLIETSISVL | LVACNILCLL | VDETAMPKGT | RGPGIGNASL | STFGFVGAAL | EIILIFYLMV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SSVVGFYSLR | FFGNFTPKKD | DTTMTKIIGN | CVSILVLSSA | LPVMSRTLGI | TRFDLLGDFG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| RFNWLGNFYI | VLSYNLLFAI | VTTLCLVRKF | TSAVREELFK | ALGLHKLHLP | NTSRDSETAK |
| PSVNGHQKAL |