Q96G97
PR
Gene name |
BSCL2 |
Protein name |
Seipin |
Names |
Bernardinelli-Seip congenital lipodystrophy type 2 protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:26580 |
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
2 structures for Q96G97
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6DS5 | EM | 380 A | A/B/C/D/E/F/G/H/I/J/K | 2-398 | PDB |
| AF-Q96G97-F1 | Predicted | AlphaFoldDB |
391 variants for Q96G97
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000445522 RCV000702768 RCV002481355 rs1057524897 CA16609260 |
3 | N>H | Monogenic diabetes Congenital generalized lipodystrophy type 2 Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs764226928 CA6053639 RCV001060434 |
6 | P>L | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001216682 rs2083513120 |
8 | P>A | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002350387 RCV000524860 CA6053633 rs770641122 |
19 | V>I | Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs772832629 RCV002489675 CA6053631 RCV001062121 |
22 | G>D | Congenital generalized lipodystrophy type 2 Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000803805 CA6053629 rs780387759 |
25 | R>P | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs756668260 CA6053627 RCV001061580 RCV002418520 |
26 | R>S | Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000817789 CA223641624 rs568354548 |
31 | F>L | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA6053624 RCV002418047 RCV000235352 RCV002479947 rs147314661 RCV000543721 |
36 | C>F | Congenital generalized lipodystrophy type 2 Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs990055355 RCV001234361 CA16619355 RCV000485905 |
40 | L>H | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000412592 CA16042204 rs1057517657 |
48 | L>F | Congenital generalized lipodystrophy type 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000797497 CA6053619 rs765023622 |
51 | S>F | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1057517658 RCV000412654 |
53 | Y>missing | Congenital generalized lipodystrophy type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002397389 RCV000690113 CA6053617 RCV002485632 rs370905417 |
56 | Y>C | Congenital generalized lipodystrophy type 2 Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001335245 RCV002504525 RCV002547336 rs1349958377 CA380970342 |
59 | T>S | Severe neurodegenerative syndrome with lipodystrophy Charcot-Marie-Tooth disease type 2 Congenital generalized lipodystrophy type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs786205068 RCV000004789 |
64 | S>missing | Congenital generalized lipodystrophy type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1057517659 RCV000412545 |
65 | P>missing | Congenital generalized lipodystrophy type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001215816 rs2083508973 |
66 | V>L | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000754919 rs557044760 CA380970096 |
70 | Y>* | Congenital generalized lipodystrophy type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV002250727 RCV001091625 rs2083508651 |
71 | R>T | Congenital generalized lipodystrophy type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000706077 RCV000727086 CA10584384 rs879253900 |
73 | D>N | Variant assessed as Somatic; 0.0 impact. Charcot-Marie-Tooth disease type 2 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000993054 rs1590881712 RCV001869376 CA380968678 |
76 | S>C | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000993055 rs1590881708 CA380968650 RCV001858766 |
77 | S>F | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1565150951 CA380968635 RCV001107687 RCV000778331 |
78 | T>A | Neuronopathy, distal hereditary motor, type 5A Congenital generalized lipodystrophy type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001080694 RCV002450739 rs149412531 CA6053569 RCV000342082 RCV000280085 RCV000236421 |
86 | V>I | Neuronopathy, distal hereditary motor, type 5A Charcot-Marie-Tooth disease type 2 Congenital generalized lipodystrophy type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000004801 RCV002426488 VAR_022375 RCV001847582 RCV000507071 CA116909 RCV000340485 RCV001813949 RCV000004802 rs137852972 RCV000168078 RCV001270680 |
88 | N>S | Hereditary spastic paraplegia Hereditary spastic paraplegia 17 Neuronopathy, distal hereditary motor, type 5A Neuronopathy, distal hereditary motor, type 5C Charcot-Marie-Tooth disease type 2 Peripheral neuropathy Inborn genetic diseases SPG17 and HMN5C; does not affect protein subcellular location [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000797348 rs1590881633 CA380968396 |
90 | S>A | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000755016 rs137852973 VAR_022376 RCV000235980 CA116912 COSM689857 RCV001813950 RCV000004803 RCV001270681 RCV000547334 |
90 | S>L | lung Neuronopathy, distal hereditary motor, type 5A Hereditary spastic paraplegia 17 Neuronopathy, distal hereditary motor, type 5C Charcot-Marie-Tooth disease type 2 SPG17 and HMN5C; also found in patients with hereditary motor and sensory neuropathy type 2; does not affect the function in lipid storage [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt TOPMed dbSNP |
|
RCV002284966 RCV000536990 rs137852973 CA380968385 RCV001270682 RCV000789082 |
90 | S>W | Charcot-Marie-Tooth disease Hereditary spastic paraplegia 17 Neuronopathy, distal hereditary motor, type 5C Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001310601 rs137930278 RCV001228343 CA6053567 RCV002436884 |
92 | T>A | Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000528034 rs772536764 CA6053565 |
96 | R>C | Variant assessed as Somatic; 0.0 impact. Charcot-Marie-Tooth disease type 2 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000794765 RCV001027498 rs772536764 CA380968289 |
96 | R>S | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000004790 rs786205069 |
101 | M>missing | Congenital generalized lipodystrophy type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1325008761 CA380966210 RCV000536090 |
105 | P>L | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA10582927 rs878855171 RCV000228112 |
105 | P>S | Variant assessed as Somatic; impact. Charcot-Marie-Tooth disease type 2 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000133399 rs587777608 RCV001091624 RCV000004793 |
106 | Y>missing | Severe neurodegenerative syndrome with lipodystrophy Congenital generalized lipodystrophy type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs786205070 RCV000004791 |
106 | Y>missing | Congenital generalized lipodystrophy type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA6053538 rs377609967 RCV001313512 |
107 | R>H | Variant assessed as Somatic; 0.0 impact. Charcot-Marie-Tooth disease type 2 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001218442 rs1945403974 |
108 | V>F | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002496260 RCV000004794 rs786205071 RCV002512772 |
109 | T>missing | Congenital generalized lipodystrophy type 2 Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs760613992 RCV002064614 CA6053532 |
114 | L>V | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA170514 RCV000133398 rs587777607 |
116 | E>* | Severe neurodegenerative syndrome with lipodystrophy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10638913 RCV000386644 RCV000280589 rs886048442 |
118 | P>T | Neuronopathy, distal hereditary motor, type 5A Congenital generalized lipodystrophy type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs137852970 RCV002326662 RCV000004795 CA277922 RCV002298433 |
138 | R>* | Variant assessed as Somatic; 0.0 impact. Neuronopathy, distal hereditary motor, type 5C Congenital generalized lipodystrophy type 2 Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
CA6053525 RCV000548732 RCV000488320 rs771534001 |
138 | R>Q | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA6053517 rs778486956 RCV001331508 COSM1509466 |
146 | S>L | lung Variant assessed as Somatic; 0.0 impact. Hereditary spastic paraplegia 17 [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000697169 RCV002332464 rs1291966839 CA380963539 |
147 | V>A | Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000205008 CA349177 rs544020840 |
150 | H>R | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA6053495 RCV002327221 RCV001337734 CA6053496 RCV000994648 rs755623017 |
158 | M>I | Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ExAC TOPMed gnomAD ClinVar dbSNP |
|
rs1565144788 CA380963063 RCV000705740 |
163 | V>F | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1131691748 RCV001070223 RCV000494386 |
164 | F>missing | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs747297291 RCV000754918 |
182 | E>DR | Congenital generalized lipodystrophy type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1945345474 RCV001349573 |
184 | Y>H | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001859815 RCV000309083 CA10638912 rs10776 RCV000265700 |
185 | A>S | Neuronopathy, distal hereditary motor, type 5A Charcot-Marie-Tooth disease type 2 Congenital generalized lipodystrophy type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000366070 RCV002347931 RCV000236915 RCV001086940 CA6053484 rs10776 RCV000269156 |
185 | A>T | Neuronopathy, distal hereditary motor, type 5A Congenital generalized lipodystrophy type 2 Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000004805 CA277936 RCV000196081 rs137852975 |
189 | E>* | Congenital generalized lipodystrophy type 2 Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000754917 rs1565144681 |
190 | N>missing | Congenital generalized lipodystrophy type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002493153 RCV000687331 CA6053454 rs769219167 |
194 | P>L | Charcot-Marie-Tooth disease type 2 Congenital generalized lipodystrophy type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1565144468 CA380962315 RCV000761420 RCV001304484 |
195 | T>I | Congenital generalized lipodystrophy type 2 Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA6053453 RCV001323310 rs140896339 RCV002545122 |
198 | A>V | Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002535174 CA6053449 RCV002493330 RCV000730857 rs781217574 |
205 | K>R | Congenital generalized lipodystrophy type 2 Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
CA6053446 RCV001815495 RCV002553768 rs763884653 RCV001054049 |
206 | R>H | Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000516060 CA380962143 rs763884653 |
206 | R>L | Hereditary spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA6053444 rs151018278 RCV000335926 RCV001089069 RCV002365352 RCV000399378 RCV000866662 |
211 | G>R | Neuronopathy, distal hereditary motor, type 5A Charcot-Marie-Tooth disease type 2 Congenital generalized lipodystrophy type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs137852971 RCV000004797 CA277926 VAR_022377 |
212 | A>P | Congenital generalized lipodystrophy type 2 CGL2; increases localization to nuclear envelope; no effect on its interaction with LDAF1; no rescue of aberrant lipid droplet formation in BSCL2-knockdown cells [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP |
|
RCV001851654 RCV000004798 rs758843908 |
213 | Y>missing | Charcot-Marie-Tooth disease type 2 Congenital generalized lipodystrophy type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002261311 CA6053441 RCV001224190 rs759231362 |
215 | R>C | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001836829 RCV000487432 rs1064797076 |
218 | A>missing | Lipodystrophy Congenital generalized lipodystrophy type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003147507 rs190842600 RCV001848974 CA6053438 RCV002367959 COSM1580620 RCV001821649 RCV000554606 RCV000994647 |
218 | A>T | Hereditary spastic paraplegia Charcot-Marie-Tooth disease type 2 Congenital generalized lipodystrophy type 2 haematopoietic_and_lymphoid_tissue Inborn genetic diseases [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM1580619 RCV000401336 CA6053437 RCV000518650 RCV000301053 rs185341934 RCV001174402 RCV000431177 RCV001083807 RCV002365351 |
218 | A>V | Monogenic diabetes Neuronopathy, distal hereditary motor, type 5A Congenital generalized lipodystrophy type 2 Charcot-Marie-Tooth disease type 2 haematopoietic_and_lymphoid_tissue Inborn genetic diseases [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001224970 rs911982128 CA223631215 |
219 | H>Q | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1945335146 RCV001053294 |
223 | L>F | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA6053419 rs760470794 RCV000699480 |
225 | Y>C | Variant assessed as Somatic; 0.0 impact. Charcot-Marie-Tooth disease type 2 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs786204131 RCV000168103 CA334271 |
230 | F>L | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA6053413 RCV000526218 rs141377075 RCV000515840 |
235 | A>T | Hereditary spastic paraplegia Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV000472825 CA6053408 rs758460754 |
244 | T>I | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000755880 RCV003166002 RCV001071687 RCV002493373 CA6053405 rs754683462 |
248 | V>I | Charcot-Marie-Tooth disease type 2 Congenital generalized lipodystrophy type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs916916343 CA223628862 RCV001055720 |
250 | V>M | Variant assessed as Somatic; 0.0 impact. Charcot-Marie-Tooth disease type 2 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000503732 rs1554983076 |
251 | L>missing | Congenital generalized lipodystrophy type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA380959705 rs1470975752 RCV001208960 |
252 | F>C | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001056959 rs369511412 CA6053400 |
255 | M>V | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA380959380 rs1444410995 RCV001174401 |
259 | W>C | Monogenic diabetes [ClinVar] | Yes |
ClinVar dbSNP ClinGen gnomAD |
|
rs367783346 RCV001850441 RCV002411169 RCV002487263 CA6053399 RCV000316610 |
259 | W>L | Charcot-Marie-Tooth disease type 2 Congenital generalized lipodystrophy type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000517808 CA16613435 RCV000471861 rs367783346 |
259 | W>S | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001196242 rs749890533 |
261 | G>missing | Severe neurodegenerative syndrome with lipodystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002502439 RCV001387719 RCV000412601 rs749890533 RCV002473000 |
262 | I>missing | Congenital generalized lipodystrophy type 2 Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000412493 RCV000133397 rs587777606 CA170512 RCV000800475 COSM1355450 |
265 | R>* | Severe neurodegenerative syndrome with lipodystrophy Variant assessed as Somatic; 4.623e-05 impact. large_intestine Charcot-Marie-Tooth disease type 2 Congenital generalized lipodystrophy type 2 [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs771322168 CA6053393 RCV001107587 RCV001107586 RCV001856438 RCV002480477 |
265 | R>Q | Variant assessed as Somatic; 0.0 impact. Neuronopathy, distal hereditary motor, type 5A Charcot-Marie-Tooth disease type 2 Congenital generalized lipodystrophy type 2 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA6053391 RCV001107585 RCV001107584 rs773431994 RCV001327834 |
267 | R>C | Neuronopathy, distal hereditary motor, type 5A Charcot-Marie-Tooth disease type 2 Congenital generalized lipodystrophy type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002422548 RCV000698889 rs201229787 CA6053390 |
267 | R>H | Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001224191 CA6053388 RCV002418777 rs779199750 |
271 | Q>P | Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001324801 rs757850010 CA6053361 |
275 | R>Q | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA223628522 rs144725547 RCV001847239 RCV001324676 RCV002493694 |
277 | R>K | Hereditary spastic paraplegia Variant assessed as Somatic; 0.0 impact. Congenital generalized lipodystrophy type 2 Charcot-Marie-Tooth disease type 2 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001318866 rs1945297760 |
278 | D>E | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001083233 RCV002433863 rs140676897 RCV000766869 RCV000192598 RCV001174400 RCV002467651 CA205518 |
280 | S>F | Severe neurodegenerative syndrome with lipodystrophy Monogenic diabetes Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs202072835 RCV000792857 CA380958197 |
281 | R>L | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002494664 CA6053356 rs202072835 RCV002444925 RCV000232016 |
281 | R>Q | Variant assessed as Somatic; 0.0 impact. Congenital generalized lipodystrophy type 2 Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1565143263 CA380958157 RCV000691320 |
282 | K>N | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002444827 RCV000205813 CA349931 rs749917957 |
286 | R>Q | Variant assessed as Somatic; 0.0 impact. Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
RCV001064393 rs1424325463 RCV002489685 |
302 | T>S | Charcot-Marie-Tooth disease type 2 Congenital generalized lipodystrophy type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001087807 RCV000271246 RCV000328674 RCV001847821 rs144245125 RCV000657059 RCV001001623 CA248240 RCV002444724 |
303 | P>L | Hereditary spastic paraplegia Neurologic Disorders/Seipinopathy Charcot-Marie-Tooth disease type 2 Inborn genetic diseases Congenital generalized lipodystrophy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1554982914 RCV000544751 |
306 | D>missing | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs778455259 RCV001327914 RCV001847241 CA6053323 |
310 | D>H | Hereditary spastic paraplegia Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
RCV000699605 CA380956857 rs778455259 |
310 | D>Y | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
RCV001848815 RCV002374810 RCV000464780 CA6053319 rs149907021 RCV001091623 RCV002489080 |
318 | S>L | Hereditary spastic paraplegia Variant assessed as Somatic; 0.0 impact. Congenital generalized lipodystrophy type 2 Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002487853 rs779682500 CA6053304 RCV000823295 |
323 | Q>R | Charcot-Marie-Tooth disease type 2 Congenital generalized lipodystrophy type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs778931376 RCV000624133 CA380955613 |
334 | P>L | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002384011 CA6053298 RCV000519487 rs778931376 RCV001235356 |
334 | P>R | Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000688210 RCV002493159 RCV001106916 rs767463971 CA6053292 RCV001106915 |
337 | G>E | Neuronopathy, distal hereditary motor, type 5A Charcot-Marie-Tooth disease type 2 Congenital generalized lipodystrophy type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001229525 RCV002429147 RCV001106918 CA6053294 RCV001106917 rs138964424 RCV000236066 |
337 | G>R | Neuronopathy, distal hereditary motor, type 5A Charcot-Marie-Tooth disease type 2 Congenital generalized lipodystrophy type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002468078 RCV001174399 RCV002345950 rs556562410 RCV000862805 |
340 | E>missing | Monogenic diabetes Congenital generalized lipodystrophy type 2 Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
CA380955057 rs1590868109 RCV000817177 RCV002487805 |
351 | S>F | Congenital generalized lipodystrophy type 2 Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000653841 CA380954754 rs1554982825 |
362 | N>D | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001082147 RCV000664139 rs145649423 RCV001847675 CA200862 RCV000300263 RCV000357438 RCV002498501 RCV000116504 RCV002426660 RCV000174173 |
363 | L>P | Hereditary spastic paraplegia Monogenic diabetes Neuronopathy, distal hereditary motor, type 5A Congenital generalized lipodystrophy type 2 Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs369732238 RCV002488949 RCV001335243 RCV002451026 RCV001848785 RCV000441284 RCV000653947 CA6053261 |
364 | P>S | Hereditary spastic paraplegia Severe neurodegenerative syndrome with lipodystrophy Congenital generalized lipodystrophy type 2 Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA6053260 RCV000234334 rs377310581 |
366 | P>S | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000686002 rs141657385 RCV000763757 RCV001849047 CA6053259 |
369 | A>V | Hereditary spastic paraplegia Congenital generalized lipodystrophy type 2 Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
CA6053258 rs199584887 RCV001223580 RCV002480738 |
370 | S>A | Charcot-Marie-Tooth disease type 2 Congenital generalized lipodystrophy type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP |
|
rs199787351 CA6053254 RCV000216520 RCV002519749 |
373 | A>P | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1473465067 CA380954442 RCV001206636 |
374 | P>L | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA223627834 rs779952369 RCV001295386 |
387 | G>A | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000460819 RCV002266964 rs1060503382 CA16613434 RCV001836825 RCV002323748 |
388 | A>S | Charcot-Marie-Tooth disease type 2 BSCL2-related Developmental and epileptic encephalopathy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs779154593 RCV001218067 |
390 | R>missing | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs138515091 RCV001335244 CA6053243 RCV001388949 |
390 | R>* | Severe neurodegenerative syndrome with lipodystrophy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001086117 RCV000724332 CA239675 RCV001847805 RCV000445495 rs149466797 RCV002326952 |
392 | R>H | Hereditary spastic paraplegia Monogenic diabetes Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1945272396 RCV001207301 |
394 | T>I | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001036263 rs775890636 CA6053238 |
395 | C>Y | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1383233874 CA380970836 |
2 | V>I | No |
ClinGen TOPMed |
|
|
CA223641786 rs907887190 |
3 | N>S | No |
ClinGen gnomAD |
|
|
CA380970820 rs1590885321 |
4 | D>A | No |
ClinGen Ensembl |
|
|
rs1309932860 CA380970814 |
5 | P>L | No |
ClinGen TOPMed |
|
|
CA6053640 rs140762669 |
5 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 7 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 8 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs11558433 CA223641739 |
10 | L>S | No |
ClinGen Ensembl |
|
|
CA6053636 rs759201886 |
11 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6053635 rs759201886 |
11 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6053634 rs776497908 |
12 | W>L | No |
ClinGen ExAC gnomAD |
|
|
rs867357580 CA223641709 |
13 | A>V | No |
ClinGen Ensembl |
|
|
rs1247598665 CA380970724 |
20 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA380970704 rs1296501254 |
23 | R>H | No |
ClinGen gnomAD |
|
|
CA6053630 rs771754989 |
25 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA6053628 rs780387759 |
25 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380970692 rs1428360757 |
26 | R>G | No |
ClinGen Ensembl |
|
|
rs1435707776 CA380970686 |
27 | L>M | No |
ClinGen gnomAD |
|
|
RCV000236351 CA10584385 rs879253928 |
27 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA223641629 rs953445189 |
30 | Q>H | No |
ClinGen TOPMed |
|
|
CA380970647 rs1590885165 |
33 | V>G | No |
ClinGen Ensembl |
|
|
CA380970638 rs1471053490 |
35 | F>L | No |
ClinGen TOPMed |
|
|
CA380970621 rs1459362408 |
37 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs751840132 CA6053623 |
39 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs957295826 CA223641595 |
43 | W>* | No |
ClinGen TOPMed |
|
|
rs764139253 CA6053622 |
43 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA380970531 rs1478630954 |
46 | V>I | No |
ClinGen gnomAD |
|
|
CA6053620 rs148132646 |
49 | Y>C | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 49 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380970435 rs1218475333 |
53 | Y>C | No |
ClinGen gnomAD |
|
|
rs1283328888 CA380970419 |
54 | Y>C | No |
ClinGen TOPMed |
|
|
CA380970405 rs1472757944 |
55 | S>F | No |
ClinGen gnomAD |
|
|
CA380970400 rs370905417 |
56 | Y>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA380970355 rs1285182823 |
58 | P>S | No |
ClinGen gnomAD |
|
|
CA380970337 rs1349958377 |
59 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1308826157 CA380970334 |
59 | T>I | No |
ClinGen gnomAD |
|
|
rs1349958377 CA380970340 |
59 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA6053615 rs760380687 |
60 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6053614 rs773037659 |
62 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6053612 rs761180242 |
65 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA380970209 rs1565152641 |
65 | P>H | No |
ClinGen Ensembl |
|
|
CA380970188 rs1471285147 |
66 | V>A | No |
ClinGen gnomAD |
|
|
CA6053609 rs770133194 |
68 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6053608 rs746458422 |
69 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs781527096 CA6053606 |
70 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA679075253 rs1316605177 |
74 | C>* | No |
ClinGen Ensembl |
|
|
rs750176844 CA6053575 |
78 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767486914 CA6053574 |
79 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA380968606 rs1186442562 |
79 | T>S | No |
ClinGen gnomAD |
|
|
rs751277966 CA6053571 |
84 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1554985014 CA380968484 RCV000520209 |
85 | P>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA223638997 rs1003234218 |
87 | A>D | No |
ClinGen Ensembl |
|
|
RCV000521639 CA380968412 rs1378410413 |
89 | V>I | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA6053566 rs773548699 |
93 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380968323 rs1385618286 |
94 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs748287282 CA6053564 |
96 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768780378 CA6053562 |
98 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6053563 rs774590929 |
98 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs775698241 CA6053542 |
99 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA6053543 rs749589212 |
99 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1565146073 CA380966333 |
100 | L>M | No |
ClinGen Ensembl |
|
| TCGA novel | 100 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6053541 rs371113921 |
102 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778171363 CA223633316 |
103 | G>E | No |
ClinGen Ensembl |
|
|
CA380966188 rs1565146036 |
106 | Y>F | No |
ClinGen Ensembl |
|
|
rs781147014 COSM929793 CA6053539 |
107 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA6053537 rs377609967 |
107 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA380966123 rs1170357754 |
109 | T>I | No |
ClinGen TOPMed |
|
|
CA223633254 rs772476337 |
111 | E>K | No |
ClinGen Ensembl |
|
|
rs752392333 CA6053534 |
112 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 112 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1435695135 CA380966035 |
113 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs886048442 CA223633227 |
118 | P>A | No |
ClinGen TOPMed |
|
|
CA6053530 rs768008962 |
119 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs374507554 CA6053529 |
121 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6053528 rs751948915 |
122 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA223633207 rs904506245 |
128 | V>L | No |
ClinGen TOPMed |
|
|
CA380965538 rs1222691278 |
132 | C>S | No |
ClinGen gnomAD |
|
|
rs1346333364 CA380965371 |
136 | G>V | No |
ClinGen TOPMed |
|
|
rs759642646 COSM1604918 CA6053524 |
140 | I>V | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA6053522 rs770894326 |
142 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs746973203 CA6053521 |
143 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380965132 rs1401291119 |
144 | S>L | No |
ClinGen gnomAD |
|
|
CA380965094 rs1388984096 |
145 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs747968134 CA6053518 |
146 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA223631716 rs987465261 |
147 | V>L | No |
ClinGen Ensembl |
|
|
CA380963552 rs987465261 RCV000517737 |
147 | V>M | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
COSM929791 rs1271994945 CA380963368 |
152 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA380963322 rs1590871096 |
154 | D>A | No |
ClinGen Ensembl |
|
|
CA380963330 rs1214983112 |
154 | D>H | No |
ClinGen gnomAD |
|
| TCGA novel | 157 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778378228 CA6053492 |
166 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs758991179 CA6053491 |
167 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA380962890 rs1479808453 |
170 | F>S | No |
ClinGen gnomAD |
|
|
rs1227717705 CA380962830 |
173 | A>V | No |
ClinGen TOPMed |
|
|
CA380962810 rs1423615035 |
175 | Q>E | No |
ClinGen gnomAD |
|
|
rs1022725320 CA223631668 |
176 | K>R | No |
ClinGen Ensembl |
|
|
rs1176342816 CA380962737 |
178 | L>M | No |
ClinGen gnomAD |
|
|
CA380962652 rs1590871033 |
181 | V>G | No |
ClinGen Ensembl |
|
|
rs765752109 CA6053489 |
182 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA223631638 rs754043914 |
184 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6053486 rs754043914 |
184 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380962574 rs1590871001 |
185 | A>G | No |
ClinGen Ensembl |
|
|
rs756196182 CA223631619 |
187 | Y>H | No |
ClinGen Ensembl |
|
|
CA223631597 rs200644629 |
190 | N>K | No |
ClinGen 1000Genomes |
|
|
rs761806607 CA6053482 |
191 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
RCV000441325 CA16606265 rs1057523660 |
193 | V>E | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA6053455 rs779513433 |
193 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA380962245 rs1295988761 |
200 | I>T | No |
ClinGen gnomAD |
|
|
rs751664305 CA6053448 |
206 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs751664305 CA6053447 |
206 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA223631230 rs939879170 |
209 | L>V | No |
ClinGen TOPMed |
|
|
rs1386884650 CA380962044 |
213 | Y>C | No |
ClinGen gnomAD |
|
|
CA6053442 rs1163758338 |
213 | Y>H | No |
ClinGen TOPMed |
|
|
COSM429464 rs142608646 CA6053440 |
215 | R>H | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs142608646 CA6053439 |
215 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1262421817 CA380962009 |
216 | I>V | No |
ClinGen gnomAD |
|
|
rs1361972082 CA380961961 |
219 | H>Y | No |
ClinGen gnomAD |
|
|
CA6053435 rs749862649 |
221 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380961929 rs749862649 |
221 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380961922 rs1245383379 |
222 | G>R | No |
ClinGen TOPMed |
|
|
CA380960364 rs1282057631 |
225 | Y>* | No |
ClinGen gnomAD |
|
|
rs772582974 CA6053418 |
226 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1054299613 CA223628942 |
227 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1390537161 RCV000722475 CA380960248 |
231 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
CA380960250 rs1390537161 |
231 | P>Q | No |
ClinGen gnomAD |
|
|
rs935812889 CA223628919 |
231 | P>T | No |
ClinGen TOPMed |
|
|
rs776027981 CA6053415 |
232 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs770308765 CA6053414 |
233 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1468142891 CA380960220 |
233 | T>S | No |
ClinGen gnomAD |
|
|
CA6053411 rs776986432 |
237 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1363166528 CA380960147 |
237 | I>V | No |
ClinGen gnomAD |
|
|
rs1181403099 CA380960119 |
238 | G>D | No |
ClinGen gnomAD |
|
|
CA380960074 rs1202216594 |
241 | S>G | No |
ClinGen gnomAD |
|
|
CA223628873 rs1041843205 |
243 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA6053407 rs758460754 |
244 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1590869450 CA380959975 |
244 | T>P | No |
ClinGen Ensembl |
|
|
CA380959959 rs1201010143 |
245 | F>L | No |
ClinGen TOPMed |
|
|
CA380959913 rs1443555999 |
246 | L>F | No |
ClinGen TOPMed |
|
|
CA380959899 rs1183638687 |
247 | S>G | No |
ClinGen TOPMed |
|
|
rs754969234 CA6053404 |
248 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1467129976 CA380959807 |
249 | I>T | No |
ClinGen TOPMed |
|
|
CA6053403 rs753679234 |
249 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380959739 rs1452054909 |
251 | L>F | No |
ClinGen TOPMed |
|
|
rs1158119987 CA380959495 |
256 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA380959425 rs1470617367 |
258 | V>L | No |
ClinGen gnomAD |
|
|
CA380959373 rs1444410995 |
259 | W>* | No |
ClinGen gnomAD |
|
|
CA380959364 rs1244214467 |
260 | G>R | No |
ClinGen gnomAD |
|
|
CA380959365 rs1244214467 |
260 | G>W | No |
ClinGen gnomAD |
|
|
rs760106114 CA6053395 |
261 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760106114 CA6053397 |
261 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760106114 CA6053396 |
261 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380959313 rs1281492913 |
261 | G>V | No |
ClinGen gnomAD |
|
| rs749890533 | 262 | I>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380959304 rs1204075773 |
262 | I>L | No |
ClinGen gnomAD |
|
|
CA380959296 rs1204075773 |
262 | I>V | No |
ClinGen gnomAD |
|
|
rs771322168 CA380959108 |
265 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1315591596 CA380959080 |
266 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs748190546 CA6053389 |
268 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1272152120 CA380958712 |
272 | V>I | No |
ClinGen gnomAD |
|
|
CA223628542 rs1042097052 |
273 | N>S | No |
ClinGen Ensembl |
|
|
rs1203334219 CA380958578 |
274 | I>M | No |
ClinGen gnomAD |
|
|
CA277932 rs137852974 |
275 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1223053833 CA380958451 |
277 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs144725547 CA6053359 |
277 | R>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761151329 CA6053358 |
278 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA380958391 rs1222755300 |
278 | D>H | No |
ClinGen TOPMed |
|
| TCGA novel | 279 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380958303 rs1440384464 |
279 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs767820877 CA6053357 |
281 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380958161 rs1452035866 |
282 | K>M | No |
ClinGen TOPMed |
|
| TCGA novel | 283 | E>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774675617 CA6053355 |
285 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA6053353 rs763070770 |
286 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs775718358 CA6053352 |
288 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1232066170 CA380957867 |
289 | S>F | No |
ClinGen gnomAD |
|
|
rs769769807 CA6053351 |
289 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1231158110 CA380957842 |
290 | A>T | No |
ClinGen TOPMed |
|
|
rs1273909538 CA380957771 |
291 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs781022347 CA6053349 |
293 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA223628271 rs1000536287 |
294 | G>A | No |
ClinGen TOPMed |
|
|
rs1421244974 CA380957232 |
300 | E>* | No |
ClinGen gnomAD |
|
|
CA380957211 rs1259959283 |
300 | E>D | No |
ClinGen TOPMed |
|
|
CA6053328 rs776379711 |
302 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA380957148 rs1424325463 |
302 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA223628241 rs1010643563 |
303 | P>S | No |
ClinGen Ensembl |
|
|
rs149990643 CA6053326 |
304 | Q>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA380957063 rs1219103324 |
305 | S>A | No |
ClinGen gnomAD |
|
|
CA6053325 rs771698323 |
305 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs747846786 CA6053324 |
307 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1423281883 CA380956940 |
308 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
rs374170281 CA223628210 |
313 | S>N | No |
ClinGen TOPMed |
|
|
rs368900617 CA6053322 |
316 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA380956609 rs1379959398 |
317 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA380956603 rs1379959398 |
317 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1294077057 CA380956615 |
317 | P>T | No |
ClinGen gnomAD |
|
|
CA6053320 rs757846034 |
318 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772516974 CA6053318 |
319 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1458232816 CA380956461 |
321 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA380955955 rs1156279901 |
323 | Q>H | No |
ClinGen TOPMed |
|
|
CA380955942 rs1359521825 |
324 | L>P | No |
ClinGen TOPMed |
|
|
CA6053302 rs141518903 |
326 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA380955878 rs141518903 |
326 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA380955843 rs1195655527 |
327 | E>K | No |
ClinGen gnomAD |
|
|
CA380955679 rs1199909791 |
332 | Q>* | No |
ClinGen gnomAD |
|
|
rs753131873 CA6053299 |
332 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 333 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1590868332 CA380955638 |
333 | Q>R | No |
ClinGen Ensembl |
|
|
rs755290954 CA6053297 |
335 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755290954 CA380955590 |
335 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1283926084 CA380955584 |
336 | S>G | No |
ClinGen TOPMed |
|
| TCGA novel | 337 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767463971 CA6053293 |
337 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1333743966 CA380955485 |
339 | E>K | No |
ClinGen gnomAD |
|
|
rs1190940122 CA380955425 |
341 | L>Q | No |
ClinGen TOPMed |
|
|
CA380955397 rs1173283308 |
342 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 342 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA223628069 rs925294616 |
343 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs774201363 CA6053289 |
345 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1181465202 CA380955291 |
346 | S>N | No |
ClinGen gnomAD |
|
|
rs1187561826 CA380955126 |
348 | G>D | No |
ClinGen gnomAD |
|
|
CA6053267 rs759063057 |
354 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 354 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380954914 rs1354030991 |
356 | A>V | No |
ClinGen gnomAD |
|
|
rs772442281 CA6053265 |
358 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA380954825 COSM3687775 rs1266361176 |
359 | T>M | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs779114853 CA6053263 |
360 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA6053262 rs769023011 |
361 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA380954746 rs1450251165 |
362 | N>I | No |
ClinGen gnomAD |
|
|
CA380954744 rs1450251165 |
362 | N>T | No |
ClinGen gnomAD |
|
|
rs1197237474 CA380954725 |
363 | L>V | No |
ClinGen TOPMed |
|
|
rs1004545791 CA223627960 |
365 | A>V | No |
ClinGen TOPMed |
|
|
CA380954688 rs377310581 |
366 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA380954648 rs1590868030 |
367 | A>P | No |
ClinGen Ensembl |
|
|
rs1052004305 CA223627939 |
369 | A>S | No |
ClinGen TOPMed |
|
|
CA223627925 rs1045933 |
370 | S>F | No |
ClinGen Ensembl |
|
|
rs199584887 CA6053255 |
370 | S>P | No |
ClinGen ESP ExAC TOPMed |
|
|
rs751558047 CA6053253 |
373 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs199787351 CA380954514 |
373 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs751558047 CA380954493 |
373 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs763972632 CA380954474 |
374 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA6053250 rs763972632 |
374 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA223627913 rs1045944 |
377 | E>K | No |
ClinGen Ensembl |
|
|
rs876661160 RCV000219997 CA10577428 |
378 | T>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1488410118 CA380954230 |
380 | G>S | No |
ClinGen gnomAD |
|
|
rs1323940047 CA380954155 |
381 | S>N | No |
ClinGen TOPMed |
|
|
CA6053248 rs752558297 |
381 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA223627878 rs3185964 |
382 | S>F | No |
ClinGen TOPMed |
|
|
CA380953977 rs1235176988 |
383 | E>G | No |
ClinGen TOPMed |
|
|
rs1200019034 CA380953981 |
383 | E>K | No |
ClinGen TOPMed |
|
|
CA380953948 rs1565142385 |
384 | P>S | No |
ClinGen Ensembl |
|
|
rs1337416976 CA380953903 |
385 | A>T | No |
ClinGen gnomAD |
|
|
CA380953777 rs779952369 |
387 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs143017094 CA16605954 RCV000426452 |
390 | R>L | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs143017094 CA6053242 |
390 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1590867860 CA380953703 |
391 | Q>R | No |
ClinGen Ensembl |
|
|
rs769048111 RCV000994646 CA6053240 |
393 | P>S | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
| TCGA novel | 395 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380953499 rs775890636 |
395 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs3186041 CA380953445 |
396 | S>C | No |
ClinGen gnomAD |
|
|
rs3186041 CA223627824 |
396 | S>F | No |
ClinGen gnomAD |
|
|
CA6053236 rs746128300 |
397 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs769997563 CA6053237 |
397 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA223627804 rs112311529 |
399 | S>R | No |
ClinGen Ensembl |
4 associated diseases with Q96G97
[MIM: 269700]: Congenital generalized lipodystrophy 2 (CGL2)
An autosomal recessive disorder characterized by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes. {ECO:0000269|PubMed:11479539, ECO:0000269|PubMed:27879284, ECO:0000269|PubMed:30901948}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 270685]: Spastic paraplegia 17, autosomal dominant (SPG17)
A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG17 is characterized by prominent amyotrophy of the hand muscles, the presence of mild to severe pyramidal tract signs and spastic paraplegia. SPG17 is a motor neuron disease overlapping with distal spinal muscular atrophy type 5. {ECO:0000269|PubMed:14981520, ECO:0000269|PubMed:17663003, ECO:0000269|PubMed:18585921, ECO:0000269|PubMed:24604904}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 619112]: Neuronopathy, distal hereditary motor, 5C (HMN5C)
A form of distal hereditary motor neuronopathy, a heterogeneous group of neuromuscular diseases caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. HMN5C is characterized by distal muscular atrophy primarily affecting the upper limbs. Lower limb involvement may occur at the same time or later. Clinical features are highly variable even within families, and include poor fine hand motor skills, difficulty walking, foot deformities, spasticity and hyperreflexia. Some HMN5C patients show axonal peripheral neuropathy and distal sensory impairment. HMN5C inheritance is autosomal dominant with incomplete penetrance. {ECO:0000269|PubMed:14981520, ECO:0000269|PubMed:17663003}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 615924]: Encephalopathy, progressive, with or without lipodystrophy (PELD)
A neurodegenerative disease characterized by developmental regression of motor and cognitive skills in the first years of life, often leading to death in the first decade, hyperactive behavior, seizures, tremor and ataxic gait. Patients may show a mild or typical lipodystrophic appearance. {ECO:0000269|PubMed:23564749}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive disorder characterized by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes. {ECO:0000269|PubMed:11479539, ECO:0000269|PubMed:27879284, ECO:0000269|PubMed:30901948}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG17 is characterized by prominent amyotrophy of the hand muscles, the presence of mild to severe pyramidal tract signs and spastic paraplegia. SPG17 is a motor neuron disease overlapping with distal spinal muscular atrophy type 5. {ECO:0000269|PubMed:14981520, ECO:0000269|PubMed:17663003, ECO:0000269|PubMed:18585921, ECO:0000269|PubMed:24604904}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A form of distal hereditary motor neuronopathy, a heterogeneous group of neuromuscular diseases caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. HMN5C is characterized by distal muscular atrophy primarily affecting the upper limbs. Lower limb involvement may occur at the same time or later. Clinical features are highly variable even within families, and include poor fine hand motor skills, difficulty walking, foot deformities, spasticity and hyperreflexia. Some HMN5C patients show axonal peripheral neuropathy and distal sensory impairment. HMN5C inheritance is autosomal dominant with incomplete penetrance. {ECO:0000269|PubMed:14981520, ECO:0000269|PubMed:17663003}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A neurodegenerative disease characterized by developmental regression of motor and cognitive skills in the first years of life, often leading to death in the first decade, hyperactive behavior, seizures, tremor and ataxic gait. Patients may show a mild or typical lipodystrophic appearance. {ECO:0000269|PubMed:23564749}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for Q96G97
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Homocysteine-binding domain | 8 - 309 | IPR003726 |
Functions
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| integral component of endoplasmic reticulum membrane | The component of the endoplasmic reticulum 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. |
| lipid droplet | An intracellular non-membrane-bounded organelle comprising a matrix of coalesced lipids surrounded by a phospholipid monolayer. May include associated proteins. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| phospholipid binding | Binding to a phospholipid, a class of lipids containing phosphoric acid as a mono- or diester. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| fat cell differentiation | The process in which a relatively unspecialized cell acquires specialized features of an adipocyte, an animal connective tissue cell specialized for the synthesis and storage of fat. |
| lipid catabolic process | The chemical reactions and pathways resulting in the breakdown of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. |
| lipid droplet formation | A process that results in the assembly, arrangement of constituent parts of a lipid droplet. |
| lipid droplet organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a lipid particle. |
| lipid storage | The accumulation and maintenance in cells or tissues of lipids, compounds soluble in organic solvents but insoluble or sparingly soluble in aqueous solvents. Lipid reserves can be accumulated during early developmental stages for mobilization and utilization at later stages of development. |
| negative regulation of lipid catabolic process | Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of lipids. |
| positive regulation of cold-induced thermogenesis | Any process that activates or increases the frequency, rate or extent of cold-induced thermogenesis. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MVNDPPVPAL | LWAQEVGQVL | AGRARRLLLQ | FGVLFCTILL | LLWVSVFLYG | SFYYSYMPTV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SHLSPVHFYY | RTDCDSSTTS | LCSFPVANVS | LTKGGRDRVL | MYGQPYRVTL | ELELPESPVN |
| 130 | 140 | 150 | 160 | 170 | 180 |
| QDLGMFLVTI | SCYTRGGRII | STSSRSVMLH | YRSDLLQMLD | TLVFSSLLLF | GFAEQKQLLE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VELYADYREN | SYVPTTGAII | EIHSKRIQLY | GAYLRIHAHF | TGLRYLLYNF | PMTCAFIGVA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SNFTFLSVIV | LFSYMQWVWG | GIWPRHRFSL | QVNIRKRDNS | RKEVQRRISA | HQPGPEGQEE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| STPQSDVTED | GESPEDPSGT | EGQLSEEEKP | DQQPLSGEEE | LEPEASDGSG | SWEDAALLTE |
| 370 | 380 | 390 | |||
| ANLPAPAPAS | ASAPVLETLG | SSEPAGGALR | QRPTCSSS |