P23415
PR
Gene name |
GLRA1 |
Protein name |
Glycine receptor subunit alpha-1 |
Names |
Glycine receptor 48 kDa subunit, Glycine receptor strychnine-binding subunit |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2741 |
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
10 structures for P23415
384 variants for P23415
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1754962750 RCV001220786 |
1 | M>V | Hereditary hyperekplexia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001350343 rs778643926 CA3523819 |
2 | Y>H | Hereditary hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA3523817 RCV001312427 rs753680915 |
4 | F>V | Hereditary hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001225417 CA3523815 rs373114110 |
5 | N>K | Hereditary hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1296531416 CA361900000 RCV002497780 RCV001229339 COSM1064665 |
8 | R>* | Hyperekplexia 1 Hereditary hyperekplexia Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
CA3523813 RCV001420977 rs74542605 RCV000538050 |
8 | R>P | Hereditary hyperekplexia Hyperekplexia 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA3523811 rs750512870 RCV000811613 |
11 | L>I | Hereditary hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001227121 CA3523810 rs141704405 |
13 | E>D | Hereditary hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA3523807 RCV001215609 RCV002462833 rs769117123 |
15 | I>T | Hereditary hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001054111 RCV001803217 rs1754959178 |
17 | F>L | Hyperekplexia 1 Hereditary hyperekplexia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002231755 rs376426309 RCV000525987 CA3523804 |
17 | F>S | Hereditary hyperekplexia Hyperekplexia 1 Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1554086308 CA361848055 RCV002231757 |
29 | A>S | Hereditary hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA3523777 rs199910297 COSM1739147 RCV001313060 |
30 | R>H | Hereditary hyperekplexia haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs369873008 CA130011814 RCV000695805 |
30 | R>S | Hereditary hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV001473321 CA3523775 rs779993828 RCV000308500 |
32 | A>T | Hyperekplexia 1 Hereditary hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA361848028 rs1254833783 RCV001206883 |
34 | K>R | Hereditary hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001195888 rs1754101255 |
36 | M>V | Hyperekplexia 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3523772 rs766445967 RCV000799592 |
39 | S>L | Hereditary hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001865543 CA3523767 rs759998394 RCV000493956 |
47 | G>R | Hereditary hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1561574547 RCV000695565 CA361847890 |
55 | R>T | Hereditary hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM1542621 CA3523743 rs142888296 RCV000698052 |
67 | V>M | lung Hereditary hyperekplexia Variant assessed as Somatic; 0.0 impact. [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000995557 rs1581645142 CA361846571 |
69 | C>Y | Hyperekplexia 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA3523741 RCV001343650 rs761410250 |
77 | G>C | Hereditary hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002231383 CA361846421 rs1554085896 |
79 | I>T | Hereditary hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA3523722 RCV001853386 rs199547699 VAR_075418 COSM1064664 RCV000490459 |
93 | R>W | Hereditary hyperekplexia Hyperekplexia 1 Variant assessed as Somatic; 0.0 impact. endometrium HKPX1; impairs expression at the cell membrane; requires much higher glycine levels for channel activation [ClinVar, NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs760390019 CA3523719 RCV002231384 |
98 | D>N | Hereditary hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs281864915 RCV001376578 RCV000017445 |
100 | R>missing | Hyperekplexia 1 Hereditary hyperekplexia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1581623910 CA361842079 VAR_075419 |
100 | R>C | HKPX1; abolishes expression at the cell membrane; requires much higher glycine levels for channel activation [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
RCV001376551 CA342950 rs281864914 RCV000031886 COSM1162701 |
100 | R>H | Hyperekplexia 1 Hereditary hyperekplexia pancreas [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP |
|
RCV001228235 rs1310413185 CA361841901 |
109 | D>N | Hereditary hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA361841786 rs1224142581 RCV002233422 |
114 | D>E | Hereditary hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001206641 rs932099226 CA129991716 |
116 | S>T | Hereditary hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA3523706 RCV000537276 rs779234204 RCV002530053 |
131 | E>K | Hereditary hyperekplexia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1581623798 RCV000825525 |
135 | H>missing | Hyperekplexia 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA361841240 RCV000706643 rs561848502 |
150 | R>P | Hyperekplexia 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002229894 rs561848502 COSM299237 CA3523702 RCV000824427 |
150 | R>Q | Hereditary hyperekplexia Hyperekplexia 1 pancreas large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1561560166 CA361841162 RCV001303826 |
157 | S>G | Hereditary hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA3523671 rs746144414 RCV001068208 |
173 | F>L | Hereditary hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs774560550 RCV002235571 CA3523670 |
174 | P>S | Hereditary hyperekplexia Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002233166 rs1341348939 CA361840598 |
175 | M>I | Hereditary hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000017446 rs121918414 RCV001328517 CA257409 |
175 | M>V | Hereditary hyperekplexia Hyperekplexia 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs372452903 RCV002231756 CA129989291 |
179 | T>I | Hereditary hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV001067619 CA3523665 rs780795063 |
181 | I>N | Hereditary hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA361840411 RCV002232626 rs1554083905 |
183 | Q>H | Hereditary hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001219177 rs781570584 RCV002497748 RCV001268800 CA3523647 |
190 | T>M | Hyperekplexia 1 Hereditary hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs202247813 CA270747 RCV000144418 |
198 | W>S | Hyperekplexia 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA361840004 RCV001350727 rs1192986592 |
200 | E>D | Hereditary hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002544653 RCV000639746 CA3523641 rs750242262 |
202 | G>E | Hereditary hyperekplexia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001322153 CA361839983 rs1295407167 |
202 | G>R | Hereditary hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1554083817 RCV001293435 RCV000554793 CA361839957 |
204 | V>M | Hereditary hyperekplexia Hyperekplexia 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001303242 CA361839914 rs1581619756 |
206 | V>G | Hereditary hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA3523637 RCV002233479 rs763939987 |
208 | D>N | Hereditary hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001322967 rs1446144797 CA361839667 |
222 | D>N | Hereditary hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000017447 rs121918415 CA341371 |
230 | Y>* | Hyperekplexia 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000285803 RCV001511994 rs375819582 CA3523605 |
241 | R>Q | Hyperekplexia 1 Hereditary hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs776919102 RCV002233641 COSM1064659 CA3523606 |
241 | R>W | Hereditary hyperekplexia Variant assessed as Somatic; 0.0 impact. endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001852633 CA342953 rs281864916 RCV000031887 |
246 | R>Q | Hereditary hyperekplexia Hyperekplexia 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA3523602 rs751659671 COSM39722 VAR_075420 |
246 | R>W | pancreas large_intestine central_nervous_system HKPX1; abolishes expression at the cell membrane; requires much higher glycine levels for channel activation [Cosmic, UniProt] | Yes |
ClinGen cosmic curated UniProt ExAC dbSNP gnomAD |
| VAR_075421 | 254 | Q>E | HKPX1; strongly increases sensitivity to extracellular glycine; high leak currents in the absence of glycine due to spontaneous channel opening [UniProt] | Yes | UniProt |
| VAR_075422 | 258 | P>S | HKPX1; impairs expression at the cell membrane; requires much higher glycine levels for channel activation [UniProt] | Yes | UniProt |
|
CA341377 RCV000017449 rs121918417 |
259 | S>R | Hyperekplexia 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1554083597 CA361837810 RCV002232624 |
265 | L>F | Hereditary hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA342956 RCV000031888 rs281864917 |
267 | W>C | Hyperekplexia 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs121918409 VAR_000296 CA341361 RCV000017440 |
272 | I>N | Hyperekplexia 1 HKPX1; requires much higher glycine levels for channel activation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000017444 rs121918413 VAR_010112 CA341369 |
278 | P>T | Hyperekplexia 1 HKPX1; requires much higher glycine levels for channel activation and displays an increased rate of desensitization [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001233142 CA129986082 rs900189503 |
279 | A>V | Hereditary hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
VAR_010113 RCV001056831 CA356539 rs281864918 |
280 | R>H | Hereditary hyperekplexia Variant assessed as Somatic; 0.0 impact. HKPX1 [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002235016 CA361837551 rs1581616673 |
282 | G>D | Hereditary hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA361837510 RCV002233418 rs1561556213 |
285 | I>T | Hereditary hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002232625 rs1554083576 CA361837483 |
287 | T>A | Hereditary hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000017448 rs121918416 CA341374 |
288 | V>M | Hyperekplexia 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001237912 rs1314623901 CA361837427 |
291 | M>T | Hereditary hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA341365 CA129986027 VAR_000297 rs121918411 RCV000017442 |
294 | Q>H | Hyperekplexia 1 HKPX1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs267606848 CA257414 RCV000017452 |
295 | S>N | Hyperekplexia 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA361837343 RCV000696689 rs1561556166 |
297 | G>S | Hereditary hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs281864920 RCV000031891 CA342959 |
298 | S>T | Hyperekplexia 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA341357 VAR_000298 rs121918408 RCV000017438 RCV002228030 |
299 | R>L | Hereditary hyperekplexia Hyperekplexia 1 HKPX1; requires much higher glycine levels for channel activation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001818164 CA341359 VAR_000299 RCV001256113 RCV001376594 RCV000017439 rs121918408 |
299 | R>Q | Hereditary hyperekplexia Hyperekplexia 1 HKPX1; decreases unitary channel conductance and requires much higher glycine concentrations for activation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001268225 RCV000017443 VAR_000300 CA341367 rs121918412 |
304 | K>E | Hyperekplexia 1 HKPX1; requires much higher glycine levels for channel activation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs281864921 RCV000031893 RCV002228072 |
306 | S>* | Hereditary hyperekplexia Hyperekplexia 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_000301 RCV000017441 CA341363 RCV001376583 rs121918410 |
307 | Y>C | Hyperekplexia 1 Hereditary hyperekplexia HKPX1; requires much higher glycine levels for channel activation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000031892 rs121918410 CA342962 |
307 | Y>S | Hyperekplexia 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_075423 | 308 | V>M | HKPX1; high leak currents in the absence of glycine due to spontaneous channel opening [UniProt] | Yes | UniProt |
| VAR_075424 | 319 | L>P | HKPX1; impairs expression at the cell membrane; requires much higher glycine levels for channel activation [UniProt] | Yes | UniProt |
|
RCV000760469 RCV000017451 RCV001376595 CA257412 rs121918418 |
324 | S>* | Hereditary hyperekplexia Hyperekplexia 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1468001309 RCV000691362 CA361851531 |
332 | V>I | Variant assessed as Somatic; 4.623e-05 impact. Hereditary hyperekplexia [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
rs1169119477 RCV001358796 CA361851451 RCV000528223 RCV003159810 |
337 | R>Q | Hereditary hyperekplexia Hyperekplexia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs77451630 CA3523555 RCV000814488 |
341 | E>G | Hereditary hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001247572 rs148221542 CA3523554 RCV003166559 |
343 | L>P | Hereditary hyperekplexia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs281864913 RCV001762554 CA356531 RCV000538375 |
344 | R>* | Hereditary hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002241001 CA3523553 rs199618583 |
344 | R>Q | Hereditary hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3523551 RCV001047521 rs147156518 |
347 | R>T | Hereditary hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001309989 rs139213838 |
349 | R>L | Hereditary hyperekplexia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3523548 RCV000531875 RCV001507110 RCV001653692 rs139213838 COSM1435346 RCV002520350 |
349 | R>Q | Hyperekplexia 1 Hereditary hyperekplexia large_intestine Inborn genetic diseases [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002240381 CA130010033 rs752071816 |
349 | R>W | Hereditary hyperekplexia Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001756155 CA3523545 rs764794082 RCV000686165 |
353 | K>R | Hereditary hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001492322 rs1581592732 CA361850402 |
360 | F>L | Hereditary hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1379750212 CA361850367 RCV001314171 |
365 | A>T | Hereditary hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs774175391 RCV001344398 CA3523515 |
366 | G>R | Hereditary hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs748241173 CA3523513 RCV002234362 |
369 | R>C | Hereditary hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs147471585 CA3523511 RCV001221620 |
369 | R>H | Hereditary hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001068979 CA3523510 rs146911085 |
373 | S>A | Hereditary hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV001039432 rs372342365 CA3523509 |
374 | A>D | Hereditary hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001507199 CA342947 RCV000454994 RCV001705618 rs116474260 RCV000031885 |
378 | G>S | Hereditary hyperekplexia Hyperekplexia 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs752407825 RCV002233404 CA3523502 |
389 | S>L | Hereditary hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1581592590 RCV001068362 |
393 | A>D | Hereditary hyperekplexia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs761971337 CA3523497 RCV001056727 |
393 | A>T | Hereditary hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000695479 CA3523495 RCV002532303 rs768970494 |
395 | N>K | Hereditary hyperekplexia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3523494 rs138173310 RCV000700290 |
397 | N>T | Hereditary hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000639749 CA3523493 rs775599403 |
400 | N>D | Hereditary hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001305680 rs775599403 RCV002307724 |
400 | N>Y | Hereditary hyperekplexia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000513929 CA3523488 rs62636581 RCV001507239 RCV001084138 |
402 | P>L | Hyperekplexia 1 Hereditary hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs62636581 RCV001312209 CA3523489 RCV001044575 |
402 | P>R | Hereditary hyperekplexia Hyperekplexia 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001341836 rs1210847781 CA361849986 |
406 | S>P | Hereditary hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs780710712 CA3523484 RCV002234715 |
408 | S>F | Hereditary hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000639745 rs767780037 |
411 | E>missing | Hereditary hyperekplexia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs151276682 RCV001320832 CA130006246 CA130006248 |
412 | M>L | Hereditary hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP |
|
rs199561280 RCV002234698 CA3523480 |
413 | R>L | Hereditary hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001293441 RCV000560505 CA3523479 rs199561280 |
413 | R>Q | Hyperekplexia 1 Hereditary hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001326254 rs1763171970 |
420 | A>T | Hereditary hyperekplexia [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_075425 | 424 | D>A | HKPX1; abolishes expression at the cell membrane [UniProt] | Yes | UniProt |
|
rs1181626947 RCV000656459 CA361849840 |
424 | D>N | Hyperekplexia 1 Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1239753439 CA361849823 RCV002234760 |
426 | I>T | Hereditary hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
VAR_010114 rs281864919 RCV000544789 RCV000358468 COSM1064655 CA356537 |
428 | R>H | Hereditary hyperekplexia Variant assessed as Somatic; 0.0 impact. endometrium HKPX1 [ClinVar, NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001241722 rs778280697 CA3523468 |
429 | I>V | Hereditary hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs747623314 CA3523466 RCV001300975 |
433 | M>T | Hereditary hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001337685 CA3523465 rs780883216 |
439 | N>S | Hereditary hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000701237 CA361849730 RCV001391318 RCV002534390 rs141039714 CA3523464 |
440 | M>I | Hyperekplexia 1 Hereditary hyperekplexia Inborn genetic diseases [ClinVar] | Yes |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD ClinVar dbSNP |
|
rs1284734503 RCV001839015 RCV000639748 CA361849732 |
440 | M>T | Hereditary hyperekplexia Hyperekplexia 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA130006137 rs1050028851 RCV001340358 |
447 | K>Q | Hereditary hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001231966 rs750346568 CA361849602 |
450 | R>C | Hereditary hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs200130685 RCV000639743 VAR_075426 RCV001312216 CA3523459 RCV002298717 |
450 | R>H | Hereditary hyperekplexia Hyperekplexia 1 HKPX1; displays leak currents in the absence of glycine due to spontaneous channel opening [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000277053 CA10621011 rs886060279 |
453 | D>Y | Hyperekplexia 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA3523818 rs757026949 |
2 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA361900023 rs1463917816 |
4 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1205202629 CA361900016 |
5 | N>S | No |
ClinGen gnomAD |
|
|
CA361900011 rs1253894400 |
6 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs74542605 CA129841763 |
8 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs370920306 CA361899996 |
9 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370920306 CA3523812 |
9 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1283906359 CA361899988 |
10 | Y>S | No |
ClinGen TOPMed |
|
|
CA361899975 rs1401506164 |
12 | W>* | No |
ClinGen gnomAD |
|
|
rs1064797316 CA16621830 RCV000487619 |
12 | W>* | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs1561587314 CA361899963 |
14 | T>A | No |
ClinGen Ensembl |
|
|
rs776026097 CA3523805 |
16 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 18 | F>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3523803 rs745317657 |
18 | F>L | No |
ClinGen ExAC gnomAD |
|
| rs1003664889 | 19 | S>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1561587291 CA361899932 |
19 | S>G | No |
ClinGen Ensembl |
|
|
CA361848113 rs1166544672 |
20 | L>F | No |
ClinGen gnomAD |
|
|
rs865940611 CA130011821 |
25 | E>K | No |
ClinGen Ensembl |
|
|
rs1447209138 CA361848071 |
26 | A>V | No |
ClinGen Ensembl |
|
|
rs868629176 CA130011818 |
27 | E>K | No |
ClinGen Ensembl |
|
|
rs199910297 CA361848048 |
30 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs905277442 CA130011811 |
31 | S>A | No |
ClinGen Ensembl |
|
|
CA130011807 rs200171902 |
31 | S>F | No |
ClinGen 1000Genomes |
|
|
CA361848019 rs1214179831 |
35 | P>L | No |
ClinGen gnomAD |
|
|
CA361848009 rs1385501136 |
37 | S>P | No |
ClinGen TOPMed |
|
|
rs1468987717 CA361848001 |
38 | P>S | No |
ClinGen gnomAD |
|
|
CA361847992 rs1280573966 |
40 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 42 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1363447309 CA361847973 |
42 | L>P | No |
ClinGen gnomAD |
|
|
rs1328520178 CA361847961 |
44 | K>* | No |
ClinGen gnomAD |
|
| TCGA novel | 44 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3523768 rs767818727 |
46 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs760494525 CA130011718 |
46 | M>K | No |
ClinGen gnomAD |
|
|
rs760494525 CA361847947 |
46 | M>T | No |
ClinGen gnomAD |
|
|
CA3523766 rs151029950 |
48 | R>K | No |
ClinGen ESP ExAC TOPMed |
|
|
CA361847920 rs1408253842 |
51 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs866405403 CA130011682 |
53 | D>N | No |
ClinGen Ensembl |
|
|
rs1396622824 CA361847888 |
55 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs935562968 CA130011678 |
62 | G>S | No |
ClinGen Ensembl |
|
|
CA130008113 rs562152247 |
63 | P>T | No |
ClinGen Ensembl |
|
|
rs1187167141 CA361846618 |
65 | V>M | No |
ClinGen gnomAD |
|
|
rs200606738 CA361846606 |
66 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1341831236 CA361846584 |
68 | S>R | No |
ClinGen gnomAD |
|
|
CA3523742 rs764704401 |
75 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA361846426 rs1332729065 |
79 | I>V | No |
ClinGen TOPMed |
|
|
rs1283062298 CA361846406 |
80 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs891832784 CA130008078 |
83 | T>N | No |
ClinGen Ensembl |
|
| TCGA novel | 91 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 91 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361842226 rs1165958512 |
93 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1165958512 CA361842223 |
93 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs753405761 CA3523721 |
95 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
RCV000494602 rs1131691474 CA361842185 |
95 | Q>P | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA356534 rs281864912 |
96 | W>C | No |
ClinGen Ensembl |
|
|
rs763726037 CA3523720 |
96 | W>S | No |
ClinGen ExAC gnomAD |
|
|
rs1581623939 CA361842109 |
98 | D>A | No |
ClinGen Ensembl |
|
|
CA129991784 rs199639315 |
98 | D>E | No |
ClinGen TOPMed |
|
|
CA3523718 rs775236352 |
99 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1008065494 CA129991779 |
99 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs374949730 CA3523715 |
104 | N>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA361841932 rs1237940101 |
107 | P>R | No |
ClinGen gnomAD |
|
|
CA3523713 rs781487245 |
110 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA129991722 rs202233543 |
113 | L>P | No |
ClinGen 1000Genomes |
|
| TCGA novel | 113 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775032574 CA3523712 |
116 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA129991712 rs921998828 |
119 | D>H | No |
ClinGen Ensembl |
|
|
CA361841616 rs1246926244 |
124 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 124 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA16603330 RCV000437193 rs1057520186 |
125 | D>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA3523709 rs780446903 |
127 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA361841522 rs1453397764 |
129 | A>D | No |
ClinGen gnomAD |
|
|
rs867853750 CA129991705 |
129 | A>S | No |
ClinGen gnomAD |
|
|
rs867853750 CA361841533 |
129 | A>T | No |
ClinGen gnomAD |
|
|
CA361841495 rs112970419 |
130 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1161477377 CA361841502 |
130 | N>S | No |
ClinGen gnomAD |
|
|
rs1195361809 CA361841408 |
135 | H>Q | No |
ClinGen TOPMed |
|
|
CA129991687 rs960531612 |
136 | F>Y | No |
ClinGen Ensembl |
|
|
CA361841337 rs1248508326 |
141 | T>I | No |
ClinGen TOPMed |
|
|
rs1465993368 CA361841321 |
143 | N>D | No |
ClinGen gnomAD |
|
| TCGA novel | 143 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361841245 rs1484575029 |
149 | S>F | No |
ClinGen gnomAD |
|
|
CA3523703 rs374834686 |
150 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361841198 rs575951950 |
153 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1236460317 CA361841196 |
154 | V>I | No |
ClinGen gnomAD |
|
|
CA129991657 rs371331129 |
158 | I>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA361840878 rs1581620859 |
161 | T>P | No |
ClinGen Ensembl |
|
|
rs773242874 CA129989383 |
163 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA3523673 rs775773817 |
164 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA3523672 rs772183498 |
167 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA361840776 rs1254971923 |
168 | M>R | No |
ClinGen gnomAD |
|
|
rs778190753 CA3523668 |
175 | M>K | No |
ClinGen ExAC |
|
|
rs954150774 CA129989308 |
176 | D>G | No |
ClinGen Ensembl |
|
|
CA129989318 rs866265452 |
176 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1334163638 CA361840544 |
177 | V>A | No |
ClinGen gnomAD |
|
|
CA361840494 rs1393267014 |
180 | C>S | No |
ClinGen TOPMed |
|
|
CA3523666 rs747651454 |
180 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA361840473 rs1328568868 |
181 | I>V | No |
ClinGen gnomAD |
|
|
rs754563002 CA3523664 |
186 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 189 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3523646 rs781570584 |
190 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1307103004 CA361840140 |
192 | N>S | No |
ClinGen TOPMed |
|
|
rs746507373 CA3523644 |
193 | D>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 196 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758183491 CA3523642 |
200 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs980887652 CA129988473 |
203 | A>D | No |
ClinGen Ensembl |
|
|
CA3523639 rs757241278 |
205 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361839907 rs1250830724 |
207 | A>S | No |
ClinGen TOPMed |
|
|
rs1581619707 CA361839806 |
214 | Q>P | No |
ClinGen Ensembl |
|
|
CA361839769 rs1287162062 |
216 | I>T | No |
ClinGen gnomAD |
|
|
rs968464704 CA129988423 |
217 | L>F | No |
ClinGen TOPMed |
|
|
CA3523630 rs773542781 |
219 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs762114136 CA3523628 |
220 | E>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 223 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1581619668 CA361839617 |
225 | Y>H | No |
ClinGen Ensembl |
|
|
rs1462356739 CA361839581 |
227 | T>A | No |
ClinGen TOPMed |
|
|
CA129986213 rs966544194 |
233 | G>A | No |
ClinGen TOPMed |
|
|
rs1057517994 RCV000414290 CA16042510 |
235 | F>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1260024710 CA361838247 |
238 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs762182371 CA3523607 |
240 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM1435349 rs281864916 CA3523601 |
246 | R>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA129986181 rs941253191 |
247 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 248 | M>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 249 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 251 | Y>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 256 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1467252662 CA361837912 |
258 | P>T | No |
ClinGen gnomAD |
|
| TCGA novel | 261 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3523599 rs369800907 |
262 | I>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs369800907 CA129986164 |
262 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA361837780 rs1164544572 |
267 | W>* | No |
ClinGen gnomAD |
|
|
CA361837760 rs1157404403 |
268 | I>N | No |
ClinGen TOPMed |
|
|
rs201471742 CA129986118 |
270 | F>L | No |
ClinGen 1000Genomes |
|
|
rs909241239 CA129986106 |
273 | N>S | No |
ClinGen Ensembl |
|
|
rs1049520548 CA129986102 |
274 | M>T | No |
ClinGen TOPMed |
|
|
CA361837637 rs1474332053 |
276 | A>T | No |
ClinGen gnomAD |
|
|
rs1302223186 CA361837622 |
277 | A>P | No |
ClinGen TOPMed |
|
|
CA129986074 rs139058916 |
280 | R>C | No |
ClinGen ESP TOPMed |
|
|
CA129986056 rs929429107 |
284 | G>R | No |
ClinGen Ensembl |
|
|
CA3523595 rs758404412 |
288 | V>G | No |
ClinGen ExAC gnomAD |
|
|
RCV000482253 CA16618146 rs1064795411 |
290 | T>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1211479548 CA361837386 |
294 | Q>* | No |
ClinGen gnomAD |
|
|
rs373120024 CA129986003 |
297 | G>V | No |
ClinGen ESP |
|
|
rs281864920 CA361837328 |
298 | S>A | No |
ClinGen TOPMed |
|
|
rs757488419 CA3523592 |
299 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs764418830 CA3523590 |
301 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1035768184 CA130010164 |
305 | V>L | No |
ClinGen Ensembl |
|
|
CA361851874 rs1265138737 |
311 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1346802411 CA361851850 |
313 | I>L | No |
ClinGen gnomAD |
|
|
CA130010140 rs867618642 |
314 | W>* | No |
ClinGen Ensembl |
|
|
CA16618145 RCV000486352 rs1064795797 |
316 | A>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs751088792 CA3523566 |
316 | A>S | No |
ClinGen ExAC |
|
|
CA361851753 rs1336349549 |
318 | C>F | No |
ClinGen TOPMed |
|
|
CA361851727 rs1235266841 |
320 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs772672987 CA3523563 |
325 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1381930137 CA361851637 |
325 | A>T | No |
ClinGen gnomAD |
|
|
CA130010092 rs769499149 |
327 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA3523561 rs761583674 |
330 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA3523560 COSM1064657 rs776477331 |
331 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs746998896 CA3523558 |
337 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA130010074 rs892060661 |
339 | H>Q | No |
ClinGen Ensembl |
|
|
CA3523557 rs780066478 |
339 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA130010070 rs200218897 |
341 | E>Q | No |
ClinGen Ensembl |
|
|
CA130010050 rs1049545628 |
345 | F>L | No |
ClinGen Ensembl |
|
|
rs1561545932 CA361851326 |
345 | F>L | No |
ClinGen Ensembl |
|
|
rs1226806237 CA361851295 |
347 | R>G | No |
ClinGen gnomAD |
|
|
CA361851292 rs147156518 |
347 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1398364061 CA361851251 |
350 | R>I | No |
ClinGen gnomAD |
|
|
rs939849216 CA130010019 |
351 | H>L | No |
ClinGen Ensembl |
|
|
CA361851243 rs1403553416 |
351 | H>Y | No |
ClinGen gnomAD |
|
|
CA361851228 rs1397053753 |
352 | H>N | No |
ClinGen TOPMed |
|
|
CA361851208 rs750009312 |
353 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs750009312 CA3523546 |
353 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3523524 rs756783113 |
354 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA3523522 rs527507140 CA3523523 |
354 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs760408535 CA3523521 |
355 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1554081981 CA3523519 |
356 | M>V | No |
ClinGen Ensembl |
|
|
rs1288027459 CA361850409 |
359 | L>P | No |
ClinGen gnomAD |
|
|
rs767322398 CA3523517 |
360 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA361850384 rs1260468986 |
362 | E>D | No |
ClinGen gnomAD |
|
|
CA361850391 rs1357549271 |
362 | E>K | No |
ClinGen gnomAD |
|
|
rs1238701818 CA361850371 |
364 | E>G | No |
ClinGen gnomAD |
|
|
CA3523516 rs759563251 |
365 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA361850344 rs1325145496 |
368 | G>V | No |
ClinGen gnomAD |
|
|
rs147471585 CA3523512 |
369 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA130006426 rs931705728 |
371 | N>T | No |
ClinGen TOPMed |
|
|
rs1156597209 CA361850321 |
372 | F>S | No |
ClinGen gnomAD |
|
|
CA361850296 rs1473689057 |
376 | G>E | No |
ClinGen TOPMed |
|
|
CA361850241 rs1201325522 |
384 | A>V | No |
ClinGen gnomAD |
|
|
rs756691617 CA3523506 |
385 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs753363839 CA3523505 |
386 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs755826887 CA3523503 |
387 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA130006384 rs529962135 |
388 | I>M | No |
ClinGen 1000Genomes |
|
|
rs767291190 CA3523501 |
390 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA361850209 rs1287407797 |
390 | V>L | No |
ClinGen gnomAD |
|
|
rs751445527 CA3523499 |
392 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1581592590 CA361850189 |
393 | A>G | No |
ClinGen Ensembl |
|
|
rs776916010 CA3523496 COSM3393348 |
394 | N>K | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1167474074 CA361850162 |
395 | N>T | No |
ClinGen TOPMed |
|
|
CA361850138 rs1312246907 |
396 | S>I | No |
ClinGen gnomAD |
|
|
rs1409982028 CA361850070 |
400 | N>S | No |
ClinGen TOPMed |
|
|
rs779337812 CA3523491 |
402 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs62636581 CA361850037 |
402 | P>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs779337812 CA361850042 |
402 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779337812 CA3523490 |
402 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1581592489 CA361850016 |
404 | A>P | No |
ClinGen Ensembl |
|
|
rs1264322765 CA361849991 |
405 | P>L | No |
ClinGen gnomAD |
|
|
rs140420721 CA130006274 |
406 | S>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs764768992 CA3523485 |
408 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764768992 CA361849960 |
408 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 410 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1471630110 CA361849935 |
410 | E>Q | No |
ClinGen TOPMed |
|
|
rs1338131195 CA361849924 |
411 | E>Q | No |
ClinGen gnomAD |
|
|
CA361849914 rs1220060322 |
412 | M>I | No |
ClinGen gnomAD |
|
|
rs1275934868 CA361849915 |
412 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
rs151276682 CA3523483 |
412 | M>V | No |
ClinGen ESP ExAC TOPMed |
|
|
CA3523481 rs375152105 |
413 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375152105 CA130006241 |
413 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361849900 rs1360843683 |
415 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA130006212 rs367564392 |
416 | F>I | No |
ClinGen ESP TOPMed |
|
|
rs760703064 CA3523476 |
418 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775717500 CA3523474 |
422 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1037723601 CA130006197 |
422 | K>Q | No |
ClinGen TOPMed |
|
| rs780743511 | 422 | K>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3523471 rs759936512 |
423 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3523470 rs774768185 |
424 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs182383995 CA3523469 |
428 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA361849808 rs769278491 |
429 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA3523467 rs769278491 |
429 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs983418003 CA130006153 |
433 | M>V | No |
ClinGen Ensembl |
|
|
rs960351972 CA130006148 |
434 | A>D | No |
ClinGen TOPMed |
|
|
CA3523463 rs751368776 |
443 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs780043745 CA3523462 |
445 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1467434683 CA361849695 |
445 | I>N | No |
ClinGen gnomAD |
|
|
CA130006136 rs1050028851 |
447 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA361849658 rs1164297673 |
447 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 448 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3523461 rs555222589 |
448 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1416379523 CA361849604 |
449 | V>A | No |
ClinGen gnomAD |
|
|
rs980787428 CA130006119 |
449 | V>I | No |
ClinGen TOPMed |
|
|
CA3523460 rs750346568 |
450 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA361849589 rs1415816176 |
451 | R>K | No |
ClinGen TOPMed |
|
| TCGA novel | 451 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752781486 CA3523456 |
452 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361849569 rs886060279 |
453 | D>N | No |
ClinGen TOPMed |
|
|
CA3523453 rs774573940 |
454 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs759799079 CA3523454 |
454 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3523452 rs146481873 |
455 | H>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3523451 rs773707878 |
455 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1311295379 CA361849474 CA361849478 |
457 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA361849485 rs1326024144 |
457 | Q>R | No |
ClinGen gnomAD |
|
|
rs1295116612 CA361849472 |
458 | Q>R | No |
ClinGen TOPMed |
1 associated diseases with P23415
[MIM: 149400]: Hyperekplexia 1 (HKPX1)
A neurologic disorder characterized by muscular rigidity of central nervous system origin, particularly in the neonatal period, and by an exaggerated startle response to unexpected acoustic or tactile stimuli. {ECO:0000269|PubMed:10514101, ECO:0000269|PubMed:24108130, ECO:0000269|PubMed:25730860, ECO:0000269|PubMed:7611730, ECO:0000269|PubMed:7881416, ECO:0000269|PubMed:7925268, ECO:0000269|PubMed:7981700, ECO:0000269|PubMed:8298642, ECO:0000269|PubMed:8571969, ECO:0000269|PubMed:8733061, ECO:0000269|PubMed:9009272, ECO:0000269|PubMed:9067762, ECO:0000269|PubMed:9920650, ECO:0000269|Ref.18}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A neurologic disorder characterized by muscular rigidity of central nervous system origin, particularly in the neonatal period, and by an exaggerated startle response to unexpected acoustic or tactile stimuli. {ECO:0000269|PubMed:10514101, ECO:0000269|PubMed:24108130, ECO:0000269|PubMed:25730860, ECO:0000269|PubMed:7611730, ECO:0000269|PubMed:7881416, ECO:0000269|PubMed:7925268, ECO:0000269|PubMed:7981700, ECO:0000269|PubMed:8298642, ECO:0000269|PubMed:8571969, ECO:0000269|PubMed:8733061, ECO:0000269|PubMed:9009272, ECO:0000269|PubMed:9067762, ECO:0000269|PubMed:9920650, ECO:0000269|Ref.18}. Note=The disease is caused by variants affecting the gene represented in this entry.
3 regional properties for P23415
Functions
15 GO annotations of cellular component
| Name | Definition |
|---|---|
| anchoring junction | A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix. |
| chloride channel complex | An ion channel complex through which chloride ions pass. |
| dendrite | A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body. |
| external side of plasma membrane | The leaflet of the plasma membrane that faces away from the cytoplasm and any proteins embedded or anchored in it or attached to its surface. |
| glycinergic synapse | A synapse that uses glycine as a neurotransmitter. |
| inhibitory synapse | A synapse in which an action potential in the presynaptic cell reduces the probability of an action potential occurring in the postsynaptic cell. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| 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. |
| intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
| neuron projection | A prolongation or process extending from a nerve cell, e.g. an axon or dendrite. |
| neuronal cell body | The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites. |
| perikaryon | The portion of the cell soma (neuronal cell body) that excludes the nucleus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| postsynaptic membrane | A specialized area of membrane facing the presynaptic membrane on the tip of the nerve ending and separated from it by a minute cleft (the synaptic cleft). Neurotransmitters cross the synaptic cleft and transmit the signal to the postsynaptic membrane. |
| synapse | The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane. |
9 GO annotations of molecular function
| Name | Definition |
|---|---|
| excitatory extracellular ligand-gated ion channel activity | Enables the transmembrane transfer of an ion by a channel that opens when a specific extracellular ligand has been bound by the channel complex or one of its constituent parts, where channel opening contributes to an increase in membrane potential. |
| extracellularly glycine-gated chloride channel activity | Enables the transmembrane transfer of a chloride ion by a channel that opens when glycine is bound by the channel complex or one of its constituent parts on the extracellular side of the plasma membrane. |
| glycine binding | Binding to glycine, aminoethanoic acid. |
| identical protein binding | Binding to an identical protein or proteins. |
| neurotransmitter receptor activity | Combining with a neurotransmitter and transmitting the signal to initiate a change in cell activity. |
| taurine binding | Binding to taurine. |
| 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. |
| transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential | Any transmitter-gated ion channel activity that is involved in regulation of postsynaptic membrane potential. |
| zinc ion binding | Binding to a zinc ion (Zn). |
27 GO annotations of biological process
| Name | Definition |
|---|---|
| acrosome reaction | The discharge, by sperm, of a single, anterior secretory granule following the sperm's attachment to the zona pellucida of the oocyte. The process begins with the fusion of the outer acrosomal membrane with the sperm plasma membrane and ends with the exocytosis of the acrosomal contents into the zona pellucida. |
| adult walking behavior | The behavior of an adult relating to the progression of that organism along the ground by the process of lifting and setting down each leg. |
| cellular response to amino acid stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an amino acid stimulus. An amino acid is a carboxylic acids containing one or more amino groups. |
| cellular response to ethanol | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ethanol stimulus. |
| cellular response to zinc ion | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a zinc ion stimulus. |
| chemical synaptic transmission | The vesicular release of classical neurotransmitter molecules from a presynapse, across a chemical synapse, the subsequent activation of neurotransmitter receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse. |
| chloride transmembrane transport | The process in which chloride is transported across a membrane. |
| chloride transport | The directed movement of chloride into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| inhibitory postsynaptic potential | A process that causes a temporary decrease in postsynaptic membrane potential due to the flow of negatively charged ions into the postsynaptic cell. The flow of ions that causes an IPSP is an inhibitory postsynaptic current (IPSC) and makes it more difficult for the neuron to fire an action potential. |
| ion transmembrane transport | A process in which an ion is transported across a membrane. |
| ion transport | The directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| muscle contraction | A process in which force is generated within muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. |
| negative regulation of transmission of nerve impulse | Any process that stops, prevents, or reduces the frequency, rate or extent of transmission of a nerve impulse, the sequential electrochemical polarization and depolarization that travels across the membrane of a neuron in response to stimulation. |
| nervous system process | A organ system process carried out by any of the organs or tissues of neurological system. |
| neuromuscular process controlling posture | Any process in which an organism voluntarily modulates its posture, the alignment of its anatomical parts. |
| neuronal action potential | An action potential that occurs in a neuron. |
| neuropeptide signaling pathway | A G protein-coupled receptor signaling pathway initiated by a neuropeptide binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process. |
| positive regulation of acrosome reaction | Any process that activates or increases the frequency, rate or extent of the acrosome reaction. |
| regulation of membrane potential | Any process that modulates the establishment or extent of a membrane potential, the electric potential existing across any membrane arising from charges in the membrane itself and from the charges present in the media on either side of the membrane. |
| regulation of respiratory gaseous exchange by nervous system process | A process carried out by the nervous system that is required for the proper control of respiratory gaseous exchange. This process occurs in the respiratory center of the brain in vertebrates. |
| response to alcohol | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an alcohol stimulus. |
| response to amino acid | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an amino acid stimulus. An amino acid is a carboxylic acids containing one or more amino groups. |
| righting reflex | A reflex process in which an animal immediately tries to turn over after being placed in a supine position. |
| 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. |
| startle response | An action or movement due to the application of a sudden unexpected stimulus. |
| synaptic transmission, glycinergic | The vesicular release of glycine from a presynapse, across a chemical synapse, the subsequent activation of glycine receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse. |
| visual perception | The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image. |
23 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9GJS9 | GLRB | Glycine receptor subunit beta | Bos taurus (Bovine) | PR |
| P57695 | GLRA1 | Glycine receptor subunit alpha-1 | Bos taurus (Bovine) | PR |
| Q94900 | GluClalpha | Glutamate-gated chloride channel | Drosophila melanogaster (Fruit fly) | PR |
| P14867 | GABRA1 | Gamma-aminobutyric acid receptor subunit alpha-1 | Homo sapiens (Human) | PR |
| O14764 | GABRD | Gamma-aminobutyric acid receptor subunit delta | Homo sapiens (Human) | PR |
| Q9UN88 | GABRQ | Gamma-aminobutyric acid receptor subunit theta | Homo sapiens (Human) | PR |
| P11230 | CHRNB1 | Acetylcholine receptor subunit beta | Homo sapiens (Human) | PR |
| Q15825 | CHRNA6 | Neuronal acetylcholine receptor subunit alpha-6 | Homo sapiens (Human) | PR |
| Q05901 | CHRNB3 | Neuronal acetylcholine receptor subunit beta-3 | Homo sapiens (Human) | PR |
| P30532 | CHRNA5 | Neuronal acetylcholine receptor subunit alpha-5 | Homo sapiens (Human) | PR |
| P32297 | CHRNA3 | Neuronal acetylcholine receptor subunit alpha-3 | Homo sapiens (Human) | PR |
| P48167 | GLRB | Glycine receptor subunit beta | Homo sapiens (Human) | PR |
| O75311 | GLRA3 | Glycine receptor subunit alpha-3 | Homo sapiens (Human) | PR |
| Q91XP5 | Glra3 | Glycine receptor subunit alpha-3 | Mus musculus (Mouse) | PR |
| P48168 | Glrb | Glycine receptor subunit beta | Mus musculus (Mouse) | PR |
| Q64018 | Glra1 | Glycine receptor subunit alpha-1 | Mus musculus (Mouse) | PR |
| P20781 | Glrb | Glycine receptor subunit beta | Rattus norvegicus (Rat) | PR |
| P24524 | Glra3 | Glycine receptor subunit alpha-3 | Rattus norvegicus (Rat) | PR |
| P07727 | Glra1 | Glycine receptor subunit alpha-1 | Rattus norvegicus (Rat) | PR |
| Q09453 | ggr-1 | Glycine receptor subunit beta-type 4 | Caenorhabditis elegans | PR |
| Q17328 | glc-2 | Glutamate-gated chloride channel subunit beta | Caenorhabditis elegans | PR |
| P41849 | lgc-50 | Ligand-gated ion channel 50 | Caenorhabditis elegans | PR |
| O93430 | glra1 | Glycine receptor subunit alphaZ1 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MYSFNTLRLY | LWETIVFFSL | AASKEAEAAR | SAPKPMSPSD | FLDKLMGRTS | GYDARIRPNF |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KGPPVNVSCN | IFINSFGSIA | ETTMDYRVNI | FLRQQWNDPR | LAYNEYPDDS | LDLDPSMLDS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| IWKPDLFFAN | EKGAHFHEIT | TDNKLLRISR | NGNVLYSIRI | TLTLACPMDL | KNFPMDVQTC |
| 190 | 200 | 210 | 220 | 230 | 240 |
| IMQLESFGYT | MNDLIFEWQE | QGAVQVADGL | TLPQFILKEE | KDLRYCTKHY | NTGKFTCIEA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RFHLERQMGY | YLIQMYIPSL | LIVILSWISF | WINMDAAPAR | VGLGITTVLT | MTTQSSGSRA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SLPKVSYVKA | IDIWMAVCLL | FVFSALLEYA | AVNFVSRQHK | ELLRFRRKRR | HHKSPMLNLF |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QEDEAGEGRF | NFSAYGMGPA | CLQAKDGISV | KGANNSNTTN | PPPAPSKSPE | EMRKLFIQRA |
| 430 | 440 | 450 | |||
| KKIDKISRIG | FPMAFLIFNM | FYWIIYKIVR | REDVHNQ |