Q9UHD8
PR
Gene name |
SEPTIN9 |
Protein name |
Septin-9 |
Names |
MLL septin-like fusion protein MSF-A, MLL septin-like fusion protein, Ovarian/Breast septin, Ov/Br septin, Septin D1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10801 |
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
4 structures for Q9UHD8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4YQF | X-ray | 273 A | A/B | 296-565 | PDB |
| 5CYO | X-ray | 204 A | A/B | 295-568 | PDB |
| 5CYP | X-ray | 289 A | A/B/C/D | 293-566 | PDB |
| AF-Q9UHD8-F1 | Predicted | AlphaFoldDB |
513 variants for Q9UHD8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV003153558 CA8793130 RCV000380185 COSM984833 rs781163314 COSM1153153 |
45 | R>Q | Amyotrophic neuralgia Variant assessed as Somatic; 0.0 impact. endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001355665 RCV001126465 CA8793133 rs549141429 |
49 | T>N | Amyotrophic neuralgia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs886053485 RCV000283466 CA10650298 |
53 | R>Q | Amyotrophic neuralgia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA8793138 rs11537706 RCV000375254 |
68 | V>M | Amyotrophic neuralgia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA401205729 rs760234906 RCV000857023 |
72 | E>D | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000278337 RCV000890282 CA8793162 rs774560543 |
93 | V>L | Amyotrophic neuralgia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA340468 RCV000006221 RCV000516514 rs80338761 VAR_033101 |
106 | R>W | Amyotrophic neuralgia HNA [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs746996757 CA8793174 RCV000335760 |
108 | T>A | Amyotrophic neuralgia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000006222 VAR_033102 CA340470 rs80338762 |
111 | S>F | Amyotrophic neuralgia HNA [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000517277 RCV002481661 RCV002231196 rs1555659856 CA658658712 |
118 | Q>P | Amyotrophic neuralgia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001683309 CA8793206 RCV000406676 rs34587622 RCV000518341 VAR_020668 |
145 | P>L | Amyotrophic neuralgia [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs544797046 RCV000296085 CA8793210 RCV002229959 |
148 | R>W | Amyotrophic neuralgia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000857025 CA8793236 RCV000857024 rs199861986 RCV000406675 RCV003153559 |
180 | A>T | Amyotrophic neuralgia Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease, type I [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV000857026 CA401206517 rs1598317173 |
205 | A>G | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1598317232 RCV000857027 CA401206568 |
213 | P>S | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs200031107 RCV000365616 CA8793269 RCV000890177 RCV001795945 |
237 | R>Q | Amyotrophic neuralgia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000857034 CA401207723 rs536822441 |
251 | D>Y | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001122815 rs762063100 CA8793528 |
268 | R>W | Amyotrophic neuralgia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA270926 RCV000144865 rs587781247 |
289 | R>H | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8793548 RCV002240654 rs367749123 RCV001122816 |
303 | V>M | Amyotrophic neuralgia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000359029 rs201560726 CA8793637 RCV002229873 |
348 | D>N | Amyotrophic neuralgia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002245757 CA8793673 rs199557573 RCV000933682 |
355 | R>W | Amyotrophic neuralgia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1294350608 RCV001256031 RCV001420661 CA401209291 |
407 | R>C | Amyotrophic neuralgia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000857036 CA8793794 rs750807119 |
475 | Q>K | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001002747 rs376712636 RCV001585911 CA8793800 |
487 | V>A | Charcot-Marie-Tooth disease, type I [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs770758927 RCV001126565 CA8793804 |
489 | E>K | Amyotrophic neuralgia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000857038 CA401209890 rs1598472570 |
494 | M>V | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA8793914 rs201409034 RCV002240907 RCV001128626 |
567 | E>K | Amyotrophic neuralgia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA401205309 RCV000857039 rs1598484143 |
569 | S>R | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000517002 VAR_020669 RCV001618572 rs2627223 RCV000605206 CA8793925 |
576 | M>V | Amyotrophic neuralgia [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs753322947 RCV002234892 CA8793929 RCV000857040 |
584 | P>L | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
rs1278076683 CA401269942 |
3 | K>M | No |
ClinGen gnomAD |
|
|
CA8792989 rs533039599 |
4 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1357337303 CA401269986 |
6 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
RCV000487567 CA8793015 rs754713968 |
9 | T>M | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs199618012 CA8793019 |
10 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8793020 rs748739459 |
10 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8793018 rs199618012 |
10 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs770477348 CA8793021 |
11 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA401269452 rs1598496020 |
11 | T>P | No |
ClinGen Ensembl |
|
| TCGA novel | 12 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8793023 rs745555900 |
13 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA401269465 rs1315669300 |
13 | S>T | No |
ClinGen Ensembl |
|
|
rs769101499 CA8793024 |
14 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs762317223 CA8793027 |
15 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762317223 CA8793026 |
15 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777105894 CA8793025 |
15 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201899859 CA8793028 |
16 | L>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs766496203 CA8793030 |
17 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8793029 rs531805982 |
17 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751687680 CA8793031 |
18 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs759789127 CA401269484 |
18 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759789127 CA8793032 |
18 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1237855735 CA401269497 |
20 | G>D | No |
ClinGen gnomAD |
|
|
rs1288121454 CA401269502 |
21 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA8793033 rs369008671 |
22 | S>A | No |
ClinGen ESP ExAC TOPMed |
|
|
CA294668019 rs939917293 |
24 | G>D | No |
ClinGen Ensembl |
|
|
CA294282734 rs962476744 |
31 | F>L | No |
ClinGen Ensembl |
|
|
CA401205488 rs1227826233 |
33 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA8793120 rs759025209 |
34 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA401205504 rs1202122258 |
36 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs752352921 CA8793122 |
37 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760287905 CA401205518 |
38 | T>A | No |
ClinGen ExAC |
|
|
CA401205520 rs1191023181 |
38 | T>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs760287905 CA8793123 |
38 | T>S | No |
ClinGen ExAC |
|
|
CA401205525 rs1478265077 |
39 | P>L | No |
ClinGen TOPMed |
|
|
rs763784876 CA8793124 |
39 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1428773661 CA401205534 |
40 | N>K | No |
ClinGen gnomAD |
|
| TCGA novel | 41 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401205543 rs1598315906 |
42 | T>P | No |
ClinGen Ensembl |
|
|
CA401205547 rs750772174 |
43 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780472921 CA8793127 |
43 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780472921 CA401205548 |
43 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750772174 CA8793126 |
43 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8793125 rs750772174 |
43 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1174889568 CA401205554 |
44 | P>L | No |
ClinGen gnomAD |
|
|
CA8793129 rs369426821 |
45 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000977736 CA8793134 rs749019982 |
50 | P>A | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA294282756 rs928578778 |
52 | L>F | No |
ClinGen gnomAD |
|
|
CA401205599 rs1352307157 |
52 | L>P | No |
ClinGen gnomAD |
|
|
rs1213767003 CA401205601 |
53 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1213767003 CA401205600 |
53 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1208925372 CA401205633 |
58 | S>N | No |
ClinGen gnomAD |
|
|
CA401205635 rs1265697912 |
58 | S>R | No |
ClinGen gnomAD |
|
|
CA294282760 rs1034935011 |
59 | S>P | No |
ClinGen TOPMed |
|
|
CA401205682 rs1598316061 |
65 | D>A | No |
ClinGen Ensembl |
|
|
rs774838669 CA8793139 |
68 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs11537706 CA401205698 CA8793137 |
68 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1457584311 CA401205708 |
69 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1345875612 CA401205706 |
69 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA401205715 rs1482028083 |
70 | N>K | No |
ClinGen TOPMed |
|
|
rs1309074268 CA401205727 |
72 | E>G | No |
ClinGen gnomAD |
|
|
rs369955777 CA8793141 |
73 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373496854 CA8793142 |
74 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA401205742 rs752068732 |
75 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs752068732 CA8793145 |
75 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA8793147 VAR_020667 rs202079794 |
76 | R>C | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA401205748 rs1243571141 |
76 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs756262702 CA8793149 |
77 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA8793150 rs778079783 |
78 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA401205759 rs1227096576 |
78 | V>L | No |
ClinGen TOPMed |
|
|
CA8793151 rs749540070 |
79 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401205779 rs1454613189 |
81 | L>P | No |
ClinGen TOPMed |
|
|
rs770806810 CA8793152 |
84 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8793153 COSM1225252 rs778538881 COSM1225253 |
84 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs770806810 CA401205798 |
84 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1598316210 CA401205802 |
85 | S>P | No |
ClinGen Ensembl |
|
|
CA8793154 rs745723320 |
86 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA401205809 rs1464961874 |
86 | P>S | No |
ClinGen TOPMed |
|
|
CA8793156 rs775564155 |
88 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs768169396 CA8793158 |
89 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs764983438 CA8793161 COSM1130146 |
91 | R>Q | Variant assessed as Somatic; 4.707e-05 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs761487397 CA8793160 |
91 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401205842 rs1177922382 |
92 | R>M | No |
ClinGen gnomAD |
|
|
rs891414719 CA294282792 |
95 | L>F | No |
ClinGen Ensembl |
|
|
CA401205867 COSM3691859 rs1309991827 COSM3691857 |
96 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA294282797 rs866528394 |
98 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA401205885 rs1257798531 |
99 | K>N | No |
ClinGen gnomAD |
|
|
CA294282799 rs960214370 |
99 | K>R | No |
ClinGen Ensembl |
|
|
rs753318328 CA8793165 |
100 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757374147 CA8793169 |
103 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA294282807 rs866576241 |
103 | P>S | No |
ClinGen Ensembl |
|
|
CA8793171 rs745583740 |
106 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs758280589 CA8793172 |
107 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs779842220 CA8793173 |
107 | R>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 110 | L>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 110 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1356868934 CA401205953 |
112 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1414985906 CA401205969 |
114 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1414985906 CA401205968 |
114 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8793175 rs768122375 |
115 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA8793179 rs200703014 |
118 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200126434 CA8793178 |
118 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8793180 rs759810622 |
121 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA401206021 rs776112941 |
122 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401206022 rs776112941 |
122 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8793182 rs776112941 |
122 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs981332202 CA294282833 |
122 | A>V | No |
ClinGen Ensembl |
|
|
CA8793184 rs764722321 |
123 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1193204367 CA401206025 |
123 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA401206030 rs1221302714 |
124 | A>T | No |
ClinGen gnomAD |
|
|
rs765373402 CA8793187 |
126 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8793186 rs757364290 |
126 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs765373402 CA401206045 |
126 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758106177 CA8793189 |
127 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1297053390 CA401206057 |
128 | S>F | No |
ClinGen gnomAD |
|
|
CA8793193 rs754858859 |
129 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754858859 CA8793192 |
129 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754858859 CA16040520 |
129 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8793191 rs201442609 |
129 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs769409038 CA8793195 |
130 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1217978070 CA401206068 |
131 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA401206088 rs1215904119 |
134 | R>K | No |
ClinGen gnomAD |
|
|
rs775951302 CA8793199 |
135 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs556044328 CA8793201 |
136 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1598316623 CA401206110 |
137 | V>G | No |
ClinGen Ensembl |
|
|
rs1242456083 CA401206123 |
139 | G>V | No |
ClinGen gnomAD |
|
|
rs1191655651 CA401206133 |
141 | K>E | No |
ClinGen gnomAD |
|
|
rs1396748657 CA401206136 |
141 | K>R | No |
ClinGen gnomAD |
|
|
rs946739041 CA294282858 |
142 | T>A | No |
ClinGen Ensembl |
|
|
rs367650017 CA8793202 |
142 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765406682 CA8793204 |
143 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1349655214 CA401206149 |
144 | E>K | No |
ClinGen gnomAD |
|
|
rs34587622 CA294282866 |
145 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs750579650 CA8793205 |
145 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1307150824 CA401206169 |
147 | P>H | No |
ClinGen gnomAD |
|
|
rs544797046 CA8793211 |
148 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8793213 rs755551840 |
148 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755551840 CA8793212 |
148 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1450096315 CA401206175 |
149 | R>K | No |
ClinGen gnomAD |
|
|
CA401206173 rs1270058538 |
149 | R>W | No |
ClinGen TOPMed |
|
|
CA401206183 rs372535058 |
150 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8793215 rs372535058 |
150 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA401206207 rs1230642374 |
154 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 155 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401206214 rs368314747 |
155 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368314747 CA8793218 |
155 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8793219 rs777255119 |
157 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA8793221 rs376473706 |
158 | Q>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA294282884 rs946188571 |
160 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs868654351 CA294282886 |
161 | A>V | No |
ClinGen Ensembl |
|
|
CA401206260 rs1598316828 |
162 | H>P | No |
ClinGen Ensembl |
|
|
rs1327513116 CA401206256 |
162 | H>Y | No |
ClinGen gnomAD |
|
|
rs1283679370 CA401206265 |
163 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA8793222 rs773291391 |
163 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8793223 rs762953963 |
164 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1568040504 CA401206287 |
166 | E>G | No |
ClinGen Ensembl |
|
|
rs766517658 CA401206294 |
167 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8793224 rs766517658 |
167 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8793225 rs751842220 |
168 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401206297 rs751842220 |
168 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1335277936 CA401206306 |
169 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA294282895 rs372055696 |
171 | K>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs752469248 CA8793229 |
172 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752469248 CA8793228 |
172 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375172433 CA8793227 |
172 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1055902433 CA401206324 |
173 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1055902433 CA294282900 |
173 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs753324081 CA8793232 |
174 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753324081 CA8793231 |
174 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778696906 CA401206335 |
175 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs778696906 CA8793233 |
175 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1465485731 CA401206342 |
176 | P>H | No |
ClinGen gnomAD |
|
|
CA401206348 rs1166531178 |
177 | T>N | No |
ClinGen gnomAD |
|
|
rs1411043778 CA401206355 |
178 | A>D | No |
ClinGen gnomAD |
|
|
rs745566208 CA8793234 |
178 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8793235 rs774741181 |
179 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA8793237 rs748481903 |
182 | D>N | No |
ClinGen ExAC gnomAD |
|
|
COSM3742458 CA8793239 COSM3742459 rs372396458 COSM3742461 |
183 | A>T | Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs749362718 CA8793240 |
183 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1205387762 CA401206394 |
185 | P>L | No |
ClinGen TOPMed |
|
|
CA8793241 rs771052512 |
186 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA401206398 rs1212564510 |
186 | K>R | No |
ClinGen gnomAD |
|
|
CA401206402 rs1257707250 |
187 | R>G | No |
ClinGen gnomAD |
|
|
rs1477293713 CA401206404 |
187 | R>K | No |
ClinGen gnomAD |
|
|
rs1555659996 RCV000499000 |
188 | V>missing | No |
ClinVar dbSNP |
|
|
rs1010086399 CA294282924 |
188 | V>L | No |
ClinGen gnomAD |
|
|
rs1373701159 CA401206428 |
190 | I>M | No |
ClinGen gnomAD |
|
|
CA401206425 rs1172543664 |
190 | I>T | No |
ClinGen gnomAD |
|
|
rs1313568118 CA401206444 |
192 | M>I | No |
ClinGen gnomAD |
|
|
CA8793243 rs577361747 |
192 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8793244 rs767751977 |
193 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA294282928 rs1021500613 |
193 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs979440363 CA294282933 |
195 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs979440363 CA401206459 |
195 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA401206463 rs1215085220 |
196 | A>T | No |
ClinGen gnomAD |
|
|
CA401206481 rs201468152 |
198 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8793246 rs201468152 |
198 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA294282937 rs987303370 |
199 | P>S | No |
ClinGen Ensembl |
|
|
CA401206488 rs1345659801 |
200 | T>A | No |
ClinGen gnomAD |
|
|
CA8793248 rs753778614 |
200 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401206491 rs753778614 |
200 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1153155 CA8793250 rs201705602 COSM984839 |
201 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA401206496 rs1203057717 |
201 | A>V | No |
ClinGen gnomAD |
|
|
rs1037253208 CA294282944 |
202 | P>S | No |
ClinGen gnomAD |
|
|
rs749982717 CA294282947 |
203 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8793252 rs749982717 |
203 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8793253 rs758073304 |
204 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA294282950 rs930963119 |
206 | Q>H | No |
ClinGen Ensembl |
|
|
CA8793254 rs779584313 RCV000910308 |
207 | T>A | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1451858240 CA401206545 |
209 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs756500601 CA8793256 |
211 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA401206561 rs1386853974 |
212 | E>K | No |
ClinGen gnomAD |
|
|
CA401206572 rs1457431185 |
213 | P>L | No |
ClinGen TOPMed |
|
|
CA401206574 rs1382518733 |
214 | A>P | No |
ClinGen gnomAD |
|
|
rs200850474 CA8793257 |
214 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1236432125 CA401206582 |
215 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA401206611 rs1315850675 |
220 | Q>* | No |
ClinGen gnomAD |
|
|
CA8793259 rs767758713 |
222 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 222 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401206650 rs1316795342 |
226 | K>Q | No |
ClinGen TOPMed |
|
|
rs1002600770 CA294282963 |
226 | K>R | No |
ClinGen Ensembl |
|
|
CA8793260 rs377297974 |
227 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377297974 CA8793261 |
227 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs914824176 CA294282968 |
228 | Q>R | No |
ClinGen TOPMed |
|
|
rs1411957983 CA401206669 |
229 | P>A | No |
ClinGen TOPMed |
|
|
rs1350956963 CA401206672 |
229 | P>L | No |
ClinGen gnomAD |
|
|
rs775642445 CA8793263 |
230 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs775642445 CA401206675 |
230 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA401206690 rs1598317326 |
232 | A>V | No |
ClinGen Ensembl |
|
|
CA294282972 rs773138376 |
234 | A>V | No |
ClinGen Ensembl |
|
|
CA8793264 rs373393647 |
235 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8793265 rs528907798 |
235 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs776680016 CA8793266 |
236 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs562811871 CA401206713 |
237 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs562811871 CA8793268 |
237 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1244311964 CA401207683 |
244 | A>S | No |
ClinGen gnomAD |
|
|
rs528101392 CA8793511 |
244 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA401207688 rs1392199741 |
245 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1392199741 CA401207686 |
245 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA401207697 rs1168249295 |
246 | P>L | No |
ClinGen gnomAD |
|
|
rs1475890703 CA401207694 |
246 | P>S | No |
ClinGen gnomAD |
|
|
CA8793513 rs750990524 |
248 | C>Y | No |
ClinGen ExAC |
|
|
CA8793515 rs766525150 |
249 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA8793517 rs371241098 |
250 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs568388045 CA8793516 |
250 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8793519 rs536822441 |
251 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1229224597 CA401207740 |
253 | A>P | No |
ClinGen TOPMed |
|
|
rs777546447 CA8793521 RCV001090255 |
254 | D>N | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1446151094 CA401207761 |
256 | P>R | No |
ClinGen TOPMed |
|
|
rs1568107937 CA401207780 |
259 | A>D | No |
ClinGen Ensembl |
|
|
rs749212687 CA8793522 |
259 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 259 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
TCGA novel rs778340037 CA8793524 |
260 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC gnomAD |
|
rs1206875794 CA401207809 |
263 | Q>H | No |
ClinGen gnomAD |
|
|
CA401207810 rs1250021384 |
264 | A>T | No |
ClinGen gnomAD |
|
|
CA8793525 rs745391514 |
264 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA8793527 rs374243883 |
266 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8793529 rs536707494 |
268 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA401207836 rs1275626134 |
269 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA401207849 rs1386576817 |
270 | E>D | No |
ClinGen gnomAD |
|
|
rs989826000 CA294293843 |
270 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1359074052 CA401207861 |
272 | A>D | No |
ClinGen gnomAD |
|
|
CA8793532 rs767006368 |
273 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767006368 COSM236222 CA401207867 |
273 | P>Q | autonomic_ganglia [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 276 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8793535 rs767835023 |
277 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8793536 rs753009286 |
278 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368168508 CA8793538 |
279 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1265485243 CA401207915 |
281 | I>V | No |
ClinGen gnomAD |
|
|
CA401207933 rs371554466 |
283 | S>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8793539 rs371554466 |
283 | S>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
CA401207935 rs1201278317 |
284 | I>V | No |
ClinGen gnomAD |
|
|
rs373824508 CA8793540 |
286 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8793541 rs778893646 |
288 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1385127507 CA401207969 |
289 | R>C | No |
ClinGen TOPMed |
|
|
CA401207976 rs557154026 |
290 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8793543 rs557154026 |
290 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8793542 rs771620779 |
290 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs887693146 CA294293858 |
295 | Q>R | No |
ClinGen Ensembl |
|
|
CA401208029 COSM1589199 COSM984844 rs1350313330 |
298 | E>K | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA401208031 rs1350313330 |
298 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
COSM1522211 rs773564637 CA8793546 COSM1522209 |
299 | F>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1160708190 CA401208052 |
301 | I>L | No |
ClinGen TOPMed |
|
|
CA8793547 rs763228036 |
301 | I>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 301 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401208073 rs1568108345 |
304 | V>I | No |
ClinGen Ensembl |
|
|
rs1205766108 CA401208573 |
306 | Q>* | No |
ClinGen gnomAD |
|
|
CA401208575 rs1237414901 |
306 | Q>R | No |
ClinGen gnomAD |
|
|
CA401208589 rs769995350 |
308 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA8793610 rs769995350 |
308 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs765098825 CA8793611 |
309 | L>CVL* | No |
ClinGen ExAC |
|
| TCGA novel | 309 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762713681 CA8793614 |
311 | K>I | No |
ClinGen ExAC |
|
|
CA8793613 rs772994216 |
311 | K>V | No |
ClinGen ExAC |
|
|
CA294294959 rs993193433 |
314 | L>I | No |
ClinGen TOPMed |
|
|
rs1417194350 CA401208639 |
315 | I>V | No |
ClinGen gnomAD |
|
|
rs759340862 CA8793617 |
317 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 324 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401208711 rs377514245 |
325 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8793620 rs377514245 |
325 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373846647 CA8793619 |
325 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8793621 rs763816708 |
327 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs569861063 CA8793623 |
329 | Q>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1483734817 CA401208733 |
329 | Q>R | No |
ClinGen TOPMed |
|
|
CA294294964 rs765359113 |
330 | P>L | No |
ClinGen Ensembl |
|
|
rs780234852 CA8793624 |
331 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA401208754 rs1290285658 |
333 | E>K | No |
ClinGen TOPMed |
|
|
rs751969314 CA8793625 |
333 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1222387079 CA401208761 |
334 | E>K | No |
ClinGen TOPMed |
|
|
rs866329694 CA294294965 |
335 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA8793626 rs369168996 |
335 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 338 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401208804 rs1191234463 |
340 | I>T | No |
ClinGen gnomAD |
|
|
CA8793630 rs368073599 |
341 | E>K | No |
ClinGen ExAC |
|
|
rs1039716027 CA294294968 |
343 | K>M | No |
ClinGen TOPMed gnomAD |
|
|
CA401208830 rs1428490614 |
344 | S>A | No |
ClinGen gnomAD |
|
|
COSM1225249 CA401208846 rs1598460509 COSM1225251 |
346 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA8793636 rs200363929 |
347 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA294295080 rs915977873 |
349 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA401208874 rs1237579199 |
349 | I>V | No |
ClinGen TOPMed |
|
|
CA8793672 rs779941348 |
354 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8793674 rs372237745 |
355 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 359 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA294295084 rs999472801 |
361 | I>T | No |
ClinGen gnomAD |
|
|
rs1555679524 RCV000497625 CA401208952 |
361 | I>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1342513989 CA401209032 |
372 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs762543093 CA8793679 |
373 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 377 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1568117217 CA401209099 |
380 | M>L | No |
ClinGen Ensembl |
|
|
rs1288467136 CA401209103 |
380 | M>T | No |
ClinGen gnomAD |
|
| TCGA novel | 384 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8793703 rs557624656 |
384 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA401209142 rs1598463367 |
385 | D>V | No |
ClinGen Ensembl |
|
|
rs1297513860 CA401209162 |
388 | E>K | No |
ClinGen gnomAD |
|
|
rs1568117265 CA401209175 |
389 | K>I | No |
ClinGen Ensembl |
|
|
rs1222889712 CA401209179 |
390 | Y>H | No |
ClinGen gnomAD |
|
|
rs1598463448 CA401209220 |
395 | V>G | No |
ClinGen Ensembl |
|
|
CA401209215 rs1324986192 |
395 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA294295155 rs939608289 |
396 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA8793706 rs763187057 |
396 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA8793707 rs763187057 |
396 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA401209231 rs1188652644 |
397 | I>M | No |
ClinGen gnomAD |
|
|
CA8793708 rs751867773 |
397 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1264418807 CA401209235 |
398 | N>T | No |
ClinGen gnomAD |
|
|
CA8793709 rs200085919 |
400 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA8793711 rs199903530 |
402 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756011135 COSM95244 CA8793712 |
402 | R>H | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA8793713 rs777636409 |
404 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8793715 rs560064992 |
406 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8793716 rs573798662 |
406 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA401209286 rs560064992 |
406 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA401209292 rs1404115043 |
407 | R>H | No |
ClinGen gnomAD |
|
|
CA401209299 rs1343532711 |
408 | V>A | No |
ClinGen TOPMed |
|
|
rs771639743 CA8793718 |
408 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA401209344 rs763092290 |
414 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1220744405 CA401209359 |
417 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1478667652 CA401209365 |
418 | T>P | No |
ClinGen gnomAD |
|
|
rs1431233902 CA401209371 |
419 | G>S | No |
ClinGen TOPMed |
|
|
CA8793728 rs752530787 |
421 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs371651556 CA294295732 |
424 | P>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1293371531 CA401209422 |
425 | L>Q | No |
ClinGen TOPMed |
|
|
CA294295737 rs961244163 |
428 | E>K | No |
ClinGen Ensembl |
|
|
CA8793755 rs754698353 |
431 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA401209473 rs1385536623 |
432 | R>C | No |
ClinGen TOPMed |
|
|
COSM1589191 rs376008276 CA294295742 COSM984856 |
432 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD |
| TCGA novel | 433 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1598467820 CA401209484 |
434 | S>N | No |
ClinGen Ensembl |
|
|
CA294295745 rs532387713 |
434 | S>R | No |
ClinGen 1000Genomes |
|
|
CA401209498 rs1432613879 |
436 | V>M | No |
ClinGen TOPMed |
|
| TCGA novel | 437 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401209502 rs1417258015 |
437 | V>I | No |
ClinGen gnomAD |
|
|
RCV001196286 CA8793757 rs749673813 RCV001760157 |
438 | N>S | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs771558861 COSM366250 CA8793758 |
439 | I>V | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA294295752 rs868065596 |
440 | V>I | No |
ClinGen gnomAD |
|
|
rs1430435965 CA401209545 |
444 | A>T | No |
ClinGen gnomAD |
|
|
rs760752419 CA401209563 |
446 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA8793763 rs760752419 |
446 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1281317829 CA401209577 |
448 | T>I | No |
ClinGen TOPMed |
|
|
rs1213221475 CA401209579 |
449 | L>V | No |
ClinGen TOPMed |
|
|
CA401209589 rs1321452335 |
450 | T>I | No |
ClinGen gnomAD |
|
|
rs776409695 CA8793765 |
454 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs761657138 CA8793766 |
456 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA8793767 rs552208083 |
458 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA401209641 rs1250865590 |
458 | K>R | No |
ClinGen TOPMed |
|
|
CA401209653 rs1228213549 |
460 | R>G | No |
ClinGen TOPMed |
|
|
rs750371718 CA8793768 |
460 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8793785 rs773077664 |
463 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA294296661 rs749093032 |
463 | A>V | No |
ClinGen Ensembl |
|
|
CA401209688 rs1302962777 |
464 | D>G | No |
ClinGen gnomAD |
|
|
CA401209707 rs1324801735 |
467 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 467 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759173216 CA8793789 |
468 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8793791 rs752437682 |
469 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA294296672 rs1039884847 |
469 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs901377173 CA294296684 |
471 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 475 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8793795 rs758827553 |
479 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs780672539 CA8793796 |
482 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA294296707 rs1047336769 |
483 | E>G | No |
ClinGen Ensembl |
|
|
CA8793798 rs201739796 |
484 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA401209828 rs1439992189 |
485 | R>Q | No |
ClinGen gnomAD |
|
|
CA401209827 rs1348107506 |
485 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA401209834 rs1288914933 |
486 | L>R | No |
ClinGen gnomAD |
|
|
rs376712636 CA8793799 |
487 | V>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs77788745 CA8793801 |
488 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs77788745 CA8793802 |
488 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs1389721469 CA401209851 |
489 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs371026410 CA8793805 |
490 | K>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8793807 COSM4130684 rs767088086 COSM4130687 COSM4130683 |
492 | R>W | thyroid [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1259921396 CA401209881 |
493 | E>K | No |
ClinGen gnomAD |
|
|
CA401209885 rs1411313840 |
493 | E>V | No |
ClinGen TOPMed |
|
|
rs1411100895 CA401209893 |
494 | M>T | No |
ClinGen TOPMed |
|
|
CA401209906 rs1317951125 |
496 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 500 | V>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA294296874 rs868465331 |
501 | G>D | No |
ClinGen Ensembl |
|
|
rs763634757 CA8793827 |
503 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs138955612 CA401209964 |
504 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1484055043 CA401209959 |
504 | H>Y | No |
ClinGen gnomAD |
|
|
rs1261546241 CA401209976 |
506 | Y>C | No |
ClinGen gnomAD |
|
|
CA8793829 rs761406919 |
507 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs766720963 CA294296891 |
507 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs766720963 CA8793830 |
507 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA8793831 rs751930046 |
508 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401209986 rs751930046 |
508 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA294296898 rs867388244 |
510 | G>C | No |
ClinGen Ensembl |
|
|
rs866268955 CA294296901 |
510 | G>D | No |
ClinGen Ensembl |
|
|
CA8793833 rs768075619 |
511 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1288523185 CA401210012 |
512 | R>K | No |
ClinGen gnomAD |
|
|
CA401210026 rs1397948582 |
514 | L>I | No |
ClinGen gnomAD |
|
|
rs777826157 CA8793836 |
518 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA401210066 rs1222345122 |
520 | W>R | No |
ClinGen gnomAD |
|
|
rs757441776 CA8793838 |
524 | E>D | No |
ClinGen ExAC |
|
|
rs780029243 CA8793859 |
528 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768495833 CA8793861 |
529 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs747674472 CA8793863 |
534 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 535 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772897487 CA8793866 |
537 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA8793867 rs200646520 |
537 | R>Q | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs772897487 CA401205076 |
537 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA294294722 rs1023221200 |
543 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs994597830 CA294294725 |
545 | M>I | No |
ClinGen TOPMed |
|
|
CA401205143 rs1192766256 |
545 | M>T | No |
ClinGen TOPMed |
|
|
CA401205147 rs1198436950 |
546 | Q>E | No |
ClinGen TOPMed |
|
|
rs377369426 CA294294728 |
547 | N>S | No |
ClinGen ESP |
|
|
rs1256177190 CA401205173 |
549 | K>M | No |
ClinGen TOPMed |
|
|
CA401205169 rs1343809956 |
549 | K>Q | No |
ClinGen TOPMed |
|
|
rs1219319237 CA401205186 |
551 | I>V | No |
ClinGen gnomAD |
|
|
rs867799481 CA294294735 |
552 | T>N | No |
ClinGen Ensembl |
|
|
CA8793905 rs754775705 |
553 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs767456537 CA401205232 |
557 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1318419081 CA401205234 |
558 | E>Q | No |
ClinGen gnomAD |
|
|
rs200062866 CA8793907 |
559 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8793909 rs777206911 |
561 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA401205270 rs1376522364 |
563 | K>M | No |
ClinGen gnomAD |
|
|
rs370161206 CA8793910 |
564 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs374661361 CA8793911 |
564 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs546339887 CA8793913 |
566 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA294294757 rs370826149 |
568 | G>D | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 568 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8793915 rs375131588 |
570 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8793916 rs748611102 |
570 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA401205317 rs773416606 |
571 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3421927 COSM3421930 rs773416606 CA8793918 |
571 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs763179188 CA8793919 |
572 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs771159726 CA8793920 |
573 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs111522601 CA401205342 |
574 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA401205339 rs1353313676 |
574 | N>S | No |
ClinGen gnomAD |
|
|
rs988554004 CA401205345 RCV000521955 |
575 | G>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA8793922 rs199687508 RCV000942927 |
575 | G>S | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs988554004 CA294294778 |
575 | G>V | No |
ClinGen Ensembl |
|
|
CA401205348 rs2627223 |
576 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8793926 rs752500912 |
577 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA401205365 rs1449326904 |
578 | E>V | No |
ClinGen gnomAD |
|
|
rs1200437467 CA401205371 |
579 | K>E | No |
ClinGen gnomAD |
|
|
rs760539210 CA8793927 |
581 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs764077284 CA8793928 |
583 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1382476368 CA401205399 |
583 | A>T | No |
ClinGen gnomAD |
|
|
rs778514701 CA401205409 |
585 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs749992229 CA8793932 |
585 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs778514701 CA8793931 |
585 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1376425222 CA401205421 |
586 | M>I | No |
ClinGen gnomAD |
|
|
rs758080294 CA8793933 |
586 | M>V | No |
ClinGen ExAC gnomAD |
2 associated diseases with Q9UHD8
[MIM: 162100]: Hereditary neuralgic amyotrophy (HNA)
Autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm. HNA is triggered by environmental factors such as infection or parturition. {ECO:0000269|PubMed:16186812, ECO:0000269|PubMed:17546647, ECO:0000269|PubMed:18492087, ECO:0000269|PubMed:19451530}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- Autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm. HNA is triggered by environmental factors such as infection or parturition. {ECO:0000269|PubMed:16186812, ECO:0000269|PubMed:17546647, ECO:0000269|PubMed:18492087, ECO:0000269|PubMed:19451530}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for Q9UHD8
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Septin-type guanine nucleotide-binding (G) domain | 295 - 571 | IPR030379 |
Functions
11 GO annotations of cellular component
| Name | Definition |
|---|---|
| actin cytoskeleton | The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes. |
| axoneme | The bundle of microtubules and associated proteins that forms the core of cilia (also called flagella) in eukaryotic cells and is responsible for their movements. |
| cell division site | The eventual plane of cell division (also known as cell cleavage or cytokinesis) in a dividing cell. In Eukaryotes, the cleavage apparatus, composed of septin structures and the actomyosin contractile ring, forms along this plane, and the mitotic, or meiotic, spindle is aligned perpendicular to the division plane. In bacteria, the cell division site is generally located at mid-cell and is the site at which the cytoskeletal structure, the Z-ring, assembles. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| microtubule | Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle. |
| microtubule cytoskeleton | The part of the cytoskeleton (the internal framework of a cell) composed of microtubules and associated proteins. |
| non-motile cilium | A cilium which may have a variable array of axonemal microtubules but does not contain molecular motors. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| septin complex | A protein complex containing septins. Typically, these complexes contain multiple septins and are oligomeric. |
| septin ring | A tight ring-shaped structure that forms in the division plane at the site of cytokinesis; composed of members of the conserved family of filament-forming proteins called septins as well as septin-associated proteins. This type of septin structure is observed at the bud neck of budding fungal cells, at the site of cell division in animal cells, at the junction between the mother cell and a pseudohyphal projection, and also within hyphae of filamentous fungi at sites where a septum will form. |
| stress fiber | A contractile actin filament bundle that consists of short actin filaments with alternating polarity, cross-linked by alpha-actinin and possibly other actin bundling proteins, and with myosin present in a periodic distribution along the fiber. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| cadherin binding | Binding to cadherin, a type I membrane protein involved in cell adhesion. |
| GTP binding | Binding to GTP, guanosine triphosphate. |
| GTPase activity | Catalysis of the reaction: GTP + H2O = GDP + H+ + phosphate. |
| molecular adaptor activity | The binding activity of a molecule that brings together two or more molecules through a selective, non-covalent, often stoichiometric interaction, permitting those molecules to function in a coordinated way. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| cytoskeleton-dependent cytokinesis | A cytokinesis that involves the function of a set of proteins that are part of the microfilament or microtubule cytoskeleton. |
| positive regulation of non-motile cilium assembly | Any process that activates or increases the frequency, rate or extent of non-motile cilium assembly. |
| protein localization | Any process in which a protein is transported to, or maintained in, a specific location. |
12 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P25342 | CDC10 | Cell division control protein 10 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q08DM7 | SEPTIN3 | Neuronal-specific septin-3 | Bos taurus (Bovine) | PR |
| Q16181 | SEPTIN7 | Septin-7 | Homo sapiens (Human) | PR |
| Q14141 | SEPTIN6 | Septin-6 | Homo sapiens (Human) | PR |
| Q9P0V9 | SEPTIN10 | Septin-10 | Homo sapiens (Human) | PR |
| Q9NVA2 | SEPTIN11 | Septin-11 | Homo sapiens (Human) | PR |
| Q9UH03 | SEPTIN3 | Neuronal-specific septin-3 | Homo sapiens (Human) | PR |
| Q9Z1S5 | Septin3 | Neuronal-specific septin-3 | Mus musculus (Mouse) | PR |
| Q80UG5 | Septin9 | Septin-9 | Mus musculus (Mouse) | PR |
| Q9WU34 | Septin3 | Neuronal-specific septin-3 | Rattus norvegicus (Rat) | PR |
| Q9QZR6 | Septin9 | Septin-9 | Rattus norvegicus (Rat) | PR |
| A2BGU8 | septin3 | Neuronal-specific septin-3 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MKKSYSGGTR | TSSGRLRRLG | DSSGPALKRS | FEVEEVETPN | STPPRRVQTP | LLRATVASST |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QKFQDLGVKN | SEPSARHVDS | LSQRSPKASL | RRVELSGPKA | AEPVSRRTEL | SIDISSKQVE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NAGAIGPSRF | GLKRAEVLGH | KTPEPAPRRT | EITIVKPQES | AHRRMEPPAS | KVPEVPTAPA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TDAAPKRVEI | QMPKPAEAPT | APSPAQTLEN | SEPAPVSQLQ | SRLEPKPQPP | VAEATPRSQE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ATEAAPSCVG | DMADTPRDAG | LKQAPASRNE | KAPVDFGYVG | IDSILEQMRR | KAMKQGFEFN |
| 310 | 320 | 330 | 340 | 350 | 360 |
| IMVVGQSGLG | KSTLINTLFK | SKISRKSVQP | TSEERIPKTI | EIKSITHDIE | EKGVRMKLTV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| IDTPGFGDHI | NNENCWQPIM | KFINDQYEKY | LQEEVNINRK | KRIPDTRVHC | CLYFIPATGH |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SLRPLDIEFM | KRLSKVVNIV | PVIAKADTLT | LEERVHFKQR | ITADLLSNGI | DVYPQKEFDE |
| 490 | 500 | 510 | 520 | 530 | 540 |
| DSEDRLVNEK | FREMIPFAVV | GSDHEYQVNG | KRILGRKTKW | GTIEVENTTH | CEFAYLRDLL |
| 550 | 560 | 570 | 580 | ||
| IRTHMQNIKD | ITSSIHFEAY | RVKRLNEGSS | AMANGMEEKE | PEAPEM |