Q9BVA0
PR
Gene name |
KATNB1 |
Protein name |
Katanin p80 WD40 repeat-containing subunit B1 |
Names |
Katanin p80 subunit B1, p80 katanin |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10300 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q9BVA0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9BVA0-F1 | Predicted | AlphaFoldDB |
541 variants for Q9BVA0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs879255518 RCV000157600 |
1 | M>V | Lissencephaly 6 with microcephaly [ClinVar] | Yes |
ClinVar dbSNP |
|
CA185925 rs730880259 COSM1519304 RCV000157601 VAR_073319 |
33 | G>W | lung Variant assessed as Somatic; impact. Lissencephaly 6 with microcephaly LIS6 [Cosmic, NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt NCI-TCGA dbSNP gnomAD |
|
RCV000157599 rs879255517 |
150 | V>missing | Lissencephaly 6 with microcephaly [ClinVar] | Yes |
ClinVar dbSNP |
|
rs730880257 CA185921 RCV000157597 VAR_073320 |
535 | S>L | Lissencephaly 6 with microcephaly LIS6; causes reduced interaction with KATNA1 and NDEL1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
VAR_073321 RCV000157598 rs730880258 CA185923 |
540 | L>R | Lissencephaly 6 with microcephaly LIS6 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| TCGA novel | 2 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs371173167 CA8080572 |
2 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396060349 rs766974907 |
4 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749929354 CA8080576 |
4 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs766974907 CA8080575 |
4 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 10 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1211360 rs1567894993 CA396060534 |
14 | Q>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1240338806 CA396062303 |
16 | I>F | No |
ClinGen TOPMed |
|
|
rs781930846 CA8080603 |
17 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs191188396 CA8080602 |
17 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8080606 rs781858200 |
18 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA8080607 rs552545792 |
18 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs781899713 CA8080609 |
21 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1331887179 CA396062390 |
23 | V>M | No |
ClinGen TOPMed |
|
|
CA396062419 rs1555579622 |
26 | L>P | No |
ClinGen gnomAD |
|
|
rs1555579632 CA396062435 |
29 | G>D | No |
ClinGen gnomAD |
|
|
CA396062432 rs1555579629 |
29 | G>S | No |
ClinGen gnomAD |
|
|
rs730880259 CA396062458 |
33 | G>R | No |
ClinGen gnomAD |
|
|
CA8080616 rs782421954 |
34 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8080615 rs371850267 |
34 | R>W | Variant assessed as Somatic; 9.264e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs782187756 CA8080618 |
37 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396062486 rs1555579670 |
38 | T>I | No |
ClinGen gnomAD |
|
|
rs1442390186 CA396062492 |
39 | G>A | No |
ClinGen TOPMed |
|
|
rs781957453 CA8080620 |
40 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1555579678 CA396062513 |
41 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 43 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782116750 CA8080621 |
43 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA8080622 rs201162528 |
44 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8080623 rs782015039 |
44 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs782015039 CA396062569 |
44 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs782156496 CA8080624 |
45 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1555579687 CA396062571 |
45 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs782710751 CA8080625 |
46 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA396062686 rs1285316973 |
51 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA8080627 rs374691293 |
51 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8080628 rs533002583 |
52 | K>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8080629 rs781861902 |
54 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1243760930 CA396062765 |
55 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1243760930 CA396062769 |
55 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA8080654 rs139636269 |
60 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA281600666 rs1041583040 |
62 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1429778607 CA396063402 |
63 | T>A | No |
ClinGen TOPMed |
|
|
rs1567897717 CA396063429 |
63 | T>I | No |
ClinGen Ensembl |
|
|
rs1429778607 CA396063398 |
63 | T>S | No |
ClinGen TOPMed |
|
|
CA396063514 rs1555580660 |
65 | P>R | No |
ClinGen gnomAD |
|
|
CA396063588 rs1322491609 |
67 | E>D | No |
ClinGen TOPMed |
|
|
rs1345523151 CA396063573 |
67 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs782330025 CA8080658 |
69 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8080659 rs782611537 |
70 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3712051 rs782226002 CA8080660 |
70 | R>H | upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs145567409 RCV000503402 CA8080663 RCV000906817 |
73 | T>A | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs145567409 CA396063734 |
73 | T>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs782428529 CA8080664 |
74 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396063770 rs1555580694 |
75 | E>K | No |
ClinGen gnomAD |
|
|
CA396063829 rs782733508 |
76 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA396063834 rs1555580700 |
77 | L>I | No |
ClinGen Ensembl |
|
|
rs1555580705 CA396063853 |
78 | I>V | No |
ClinGen gnomAD |
|
|
rs782120017 CA8080669 |
79 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA396063902 rs1555580724 |
80 | A>V | No |
ClinGen gnomAD |
|
|
rs1555580728 CA396063959 |
82 | S>F | No |
ClinGen Ensembl |
|
|
CA8080673 rs782431692 |
84 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA8080672 rs782431692 |
84 | S>W | No |
ClinGen ExAC gnomAD |
|
|
rs536822820 CA8080674 |
88 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8080675 rs782491062 |
88 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8080677 rs782260700 |
91 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA8080679 rs782696921 |
93 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA396064209 rs1555580760 |
94 | A>G | No |
ClinGen gnomAD |
|
|
CA396064214 rs1555580768 |
95 | A>T | No |
ClinGen gnomAD |
|
|
rs782187460 CA8080680 |
96 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA396065849 rs1555582814 |
97 | I>N | No |
ClinGen gnomAD |
|
| TCGA novel | 99 | R>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396065870 rs1193098634 |
99 | R>C | No |
ClinGen TOPMed |
|
|
CA8080701 rs532650086 |
99 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 100 | T>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA281604698 rs944816409 |
101 | L>F | No |
ClinGen Ensembl |
|
|
CA396065927 rs1555582829 |
102 | M>T | No |
ClinGen Ensembl |
|
|
rs371315290 CA8080704 |
106 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371315290 CA8080705 |
106 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396066128 rs1555582836 |
107 | N>I | No |
ClinGen gnomAD |
|
|
rs1468227491 CA396066207 |
110 | S>C | No |
ClinGen TOPMed |
|
|
rs1597828418 CA396066326 |
114 | H>P | No |
ClinGen Ensembl |
|
|
CA396066318 rs1215384490 |
114 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs782019928 CA8080708 |
115 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs368082767 CA8080711 |
117 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396066474 rs1555582862 |
118 | E>D | No |
ClinGen gnomAD |
|
|
rs782756705 CA8080713 |
118 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555582865 CA396066510 |
120 | V>L | No |
ClinGen gnomAD |
|
|
CA8080714 rs781863769 |
124 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA8080715 rs782531065 |
128 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs1439485006 CA396066709 |
128 | N>I | No |
ClinGen TOPMed |
|
|
CA396066872 rs1555583002 |
132 | W>* | No |
ClinGen gnomAD |
|
|
rs782644297 CA8080737 |
133 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA396066899 rs201835349 |
134 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs201835349 CA8080738 |
134 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA8080739 rs782536940 |
136 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA396067034 rs782685632 |
138 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8080740 rs782685632 |
138 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782189595 CA8080741 |
142 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs782335200 CA8080742 |
142 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1184701151 CA396067174 |
143 | Y>H | No |
ClinGen TOPMed |
|
|
CA8080761 rs782267239 |
145 | G>E | No |
ClinGen ExAC TOPMed |
|
|
rs1374732194 CA396067335 |
147 | S>G | No |
ClinGen TOPMed |
|
|
CA396067351 rs1312999569 |
148 | Q>K | No |
ClinGen TOPMed |
|
|
rs1436017261 CA396067357 |
148 | Q>R | No |
ClinGen TOPMed |
|
|
rs1555583148 CA396067377 |
149 | A>V | No |
ClinGen gnomAD |
|
|
rs372154500 CA8080765 |
151 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA281605317 rs369064313 |
151 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA396067460 rs1555583167 |
154 | R>Q | No |
ClinGen gnomAD |
|
|
rs1555583174 CA396067520 |
158 | D>N | No |
ClinGen gnomAD |
|
|
CA396067569 rs1474529363 |
161 | W>L | No |
ClinGen TOPMed |
|
|
CA8080770 rs782526194 |
163 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8080772 rs781939367 |
164 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396067634 rs1555583195 |
166 | A>T | No |
ClinGen gnomAD |
|
|
CA396067648 rs1555583199 |
167 | D>N | No |
ClinGen gnomAD |
|
|
rs1555583204 CA396067706 |
170 | T>A | No |
ClinGen gnomAD |
|
|
CA396067715 rs1555583208 |
170 | T>I | No |
ClinGen gnomAD |
|
|
rs782794867 CA8080777 |
171 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA8080778 rs781786055 TCGA novel |
172 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
rs1555583368 CA396068246 |
174 | W>S | No |
ClinGen gnomAD |
|
|
CA396068272 rs1567901198 |
176 | L>V | No |
ClinGen Ensembl |
|
|
CA396068310 rs1388866415 |
179 | G>R | No |
ClinGen TOPMed |
|
|
rs1388866415 CA396068312 |
179 | G>S | No |
ClinGen TOPMed |
|
|
rs782539154 CA396068335 |
180 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8080803 rs60158050 VAR_062099 |
181 | M>V | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA8080804 rs781796817 |
182 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA8080805 rs782450704 |
183 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396068398 rs1555583386 |
185 | F>L | No |
ClinGen gnomAD |
|
|
CA396068425 rs1555583393 |
186 | P>L | No |
ClinGen gnomAD |
|
|
CA396068427 rs1597829117 |
187 | G>S | No |
ClinGen Ensembl |
|
|
rs61729343 CA396068458 |
189 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8080807 rs61729343 |
189 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA281605545 rs61729343 |
189 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8080809 rs782658225 |
191 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA396068505 rs1417066128 |
193 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs934362365 CA281605599 |
199 | P>L | No |
ClinGen Ensembl |
|
| TCGA novel | 200 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8080813 rs782078975 |
200 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396068656 rs1555583427 |
205 | A>T | No |
ClinGen gnomAD |
|
|
CA8080816 rs782125903 |
207 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3937103 CA396068678 rs782125903 |
207 | G>S | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA396068840 rs879999135 |
213 | I>L | No |
ClinGen TOPMed |
|
|
CA396068842 rs879999135 |
213 | I>V | No |
ClinGen TOPMed |
|
|
CA8080839 rs375814930 |
214 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs782135998 CA8080840 |
214 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs375814930 CA281605876 |
214 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 215 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555583689 CA396068887 |
216 | W>* | No |
ClinGen gnomAD |
|
|
rs1555583705 CA396068927 |
219 | E>D | No |
ClinGen gnomAD |
|
|
rs782446656 CA8080843 |
219 | E>K | No |
ClinGen ExAC |
|
|
rs923035087 CA281605927 |
220 | K>N | No |
ClinGen Ensembl |
|
|
CA396068972 rs1555583712 |
223 | V>M | No |
ClinGen gnomAD |
|
|
CA396068985 rs1555583715 |
224 | V>A | No |
ClinGen gnomAD |
|
|
rs1555583720 CA396068990 |
225 | S>N | No |
ClinGen gnomAD |
|
|
rs1142315 CA281605935 |
226 | C>R | No |
ClinGen Ensembl |
|
|
rs1441416056 CA396069015 |
227 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs781837629 CA8080845 |
228 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782272080 CA8080848 |
230 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs782650783 CA8080847 |
230 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 231 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396069054 rs1432317330 |
232 | G>R | No |
ClinGen TOPMed |
|
|
rs782579971 CA8080850 |
233 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs782579971 CA396069072 |
233 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs781977681 CA396069076 |
234 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8080853 rs781977681 |
234 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs782253723 CA8080854 |
235 | R>G | No |
ClinGen ExAC |
|
|
rs782400251 CA8080855 |
235 | R>M | No |
ClinGen ExAC |
|
|
rs138267441 CA8080878 |
237 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1555583861 CA396069192 |
242 | D>N | No |
ClinGen gnomAD |
|
|
CA8080881 rs782052905 |
243 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA396069217 rs1555583874 |
244 | C>Y | No |
ClinGen gnomAD |
|
|
CA396069241 rs1389858098 |
246 | L>P | No |
ClinGen TOPMed |
|
|
rs1368365597 CA396069257 |
248 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA8080884 rs370364339 |
248 | S>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8080886 rs781877836 |
249 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs782545219 CA8080887 |
250 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA8080888 rs782691106 |
255 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781803277 CA8080889 |
255 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396069327 rs781803277 |
255 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782475342 CA8080890 |
258 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396069365 rs1555583904 |
259 | W>* | No |
ClinGen gnomAD |
|
|
rs782604339 CA8080891 |
260 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs200061800 CA281606192 |
260 | E>G | No |
ClinGen Ensembl |
|
|
rs1555583910 CA396069383 |
261 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 261 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555583908 CA396069382 |
261 | P>S | No |
ClinGen gnomAD |
|
|
rs1211558572 CA396069388 |
262 | E>K | No |
ClinGen TOPMed |
|
|
CA8080894 rs782672640 |
263 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8080893 rs147266913 |
263 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1223212084 CA396069437 |
267 | V>M | No |
ClinGen TOPMed |
|
|
CA8080895 rs374347552 |
268 | V>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA396069457 rs1555583926 |
269 | L>F | No |
ClinGen gnomAD |
|
|
CA8080898 rs782085562 |
270 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA396069491 rs1555583935 |
272 | W>* | No |
ClinGen gnomAD |
|
|
rs782133721 CA8080901 |
275 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs782133721 CA396069551 |
275 | V>G | No |
ClinGen ExAC gnomAD |
|
|
COSM435441 CA396069574 rs1555583939 |
277 | D>N | Variant assessed as Somatic; 6.496e-05 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA8080903 rs781911282 |
278 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA8080905 rs782721778 |
282 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA396069684 rs1555583949 |
283 | D>E | No |
ClinGen gnomAD |
|
|
CA396069712 rs1366865354 |
285 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs782800779 CA8080931 |
286 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1555584057 CA396069826 |
287 | G>C | No |
ClinGen gnomAD |
|
|
rs1555584062 CA396069839 |
288 | V>M | No |
ClinGen gnomAD |
|
|
rs370835158 CA8080932 |
289 | A>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1555584071 CA396069901 |
291 | S>F | No |
ClinGen gnomAD |
|
|
rs935346117 CA281606496 |
293 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs201626477 CA396069954 |
294 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA281606504 rs371254391 |
295 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA gnomAD |
|
rs572963582 CA8080936 |
297 | S>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8080938 rs782279465 |
299 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8080940 rs782566070 |
303 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs900019824 CA8080941 |
304 | R>C | No |
ClinGen TOPMed |
|
|
CA396070091 rs900019824 |
304 | R>G | No |
ClinGen TOPMed |
|
|
rs782202454 CA8080943 |
304 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396070088 rs900019824 |
304 | R>S | No |
ClinGen TOPMed |
|
|
CA8080945 rs782353858 |
306 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA8080944 rs782353858 |
306 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs782259585 CA8080946 |
307 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs782259585 CA396070119 |
307 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA396070135 rs1555584128 |
308 | T>I | No |
ClinGen gnomAD |
|
|
CA8080947 rs535696616 |
310 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs781950793 CA8080951 |
313 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782726527 CA8080950 |
313 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555584149 CA396070236 |
314 | D>E | No |
ClinGen gnomAD |
|
|
CA396070250 rs1442694551 |
315 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
RCV000947705 rs61729342 CA8080953 |
316 | V>M | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs781823358 CA396070274 |
317 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781823358 CA8080954 |
317 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782448916 CA8080955 |
318 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1463824204 CA396070300 |
319 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
CA8080957 rs781897577 |
320 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8080959 rs782651191 |
322 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs782231949 CA8080960 |
323 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1567902132 CA396070428 |
324 | Q>E | No |
ClinGen Ensembl |
|
|
rs782590255 CA8080962 |
324 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396070490 rs1555584185 |
328 | N>Y | No |
ClinGen gnomAD |
|
|
rs1555584189 CA396070530 |
329 | P>L | No |
ClinGen gnomAD |
|
|
CA396070521 rs1341355556 |
329 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA396070519 rs1341355556 |
329 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs367751219 CA8080963 |
330 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8080965 rs782659039 |
331 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA396070591 rs1555584202 |
332 | P>A | No |
ClinGen gnomAD |
|
|
CA396070600 rs1555584207 |
332 | P>L | No |
ClinGen Ensembl |
|
|
rs781969053 CA8080969 |
333 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782323070 CA8080970 |
333 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs781969053 CA8080968 |
333 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781917876 CA8080971 |
334 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8080972 rs782162027 |
335 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs782790122 CA8080973 |
335 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA281606771 rs7185990 |
338 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA8080977 rs375862120 |
339 | R>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8080976 rs375862120 |
339 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8080975 rs372138195 |
339 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA281606797 rs969212898 |
340 | P>L | No |
ClinGen TOPMed |
|
|
CA396070694 rs1555584248 |
340 | P>S | No |
ClinGen gnomAD |
|
|
rs782686368 CA396070708 |
341 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1209385031 CA396070701 |
341 | S>R | No |
ClinGen TOPMed |
|
|
CA8080980 rs369638304 |
341 | S>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs782686368 CA8080979 |
341 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA281606824 rs981917778 |
342 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA396070735 rs1555584257 |
343 | T>I | No |
ClinGen gnomAD |
|
|
CA8080982 rs782522839 |
344 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs1555584258 CA396070736 |
344 | C>S | No |
ClinGen gnomAD |
|
|
rs782522839 CA8080981 |
344 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs782224310 CA8080983 |
345 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555584263 CA396070794 |
347 | P>L | No |
ClinGen gnomAD |
|
|
rs782339190 CA8080984 |
348 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396070821 rs1555584266 |
348 | Q>H | No |
ClinGen gnomAD |
|
|
CA396071048 rs1408674053 |
355 | E>V | No |
ClinGen TOPMed |
|
|
CA396071070 rs1370856054 |
356 | S>N | No |
ClinGen TOPMed |
|
|
rs200545074 CA396071074 |
356 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs782120101 CA8081015 |
357 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA8081017 rs374688182 |
358 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396071106 rs1172327659 |
358 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA8081016 rs374688182 |
358 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8081018 rs782060401 |
359 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs142219691 CA8081019 |
359 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA gnomAD |
|
CA396071165 rs1555584372 |
361 | P>S | No |
ClinGen gnomAD |
|
|
CA8081021 rs782540305 |
362 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA396071205 rs1555584387 |
363 | S>G | No |
ClinGen gnomAD |
|
|
rs112994876 CA281607092 |
363 | S>I | No |
ClinGen Ensembl |
|
|
CA8081023 COSM3794938 rs781851855 |
364 | E>K | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1555584398 CA396071258 |
366 | D>G | No |
ClinGen gnomAD |
|
|
CA396071269 rs1271670447 |
367 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs150806682 CA8081024 |
367 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201625277 CA8081027 |
368 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8081025 rs782593018 |
368 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1252553800 CA396071298 |
369 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA8081028 rs782678665 |
369 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA281607111 rs200878269 |
369 | E>V | No |
ClinGen 1000Genomes |
|
|
rs139134999 CA8081029 |
370 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8081030 rs144107393 |
370 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA396071324 rs1555584420 |
371 | E>G | No |
ClinGen gnomAD |
|
|
rs368004448 CA8081032 |
371 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1219563642 CA396071349 |
373 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs529376681 CA8081033 COSM971891 |
373 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA396071359 rs1227639687 |
374 | A>T | No |
ClinGen TOPMed |
|
|
rs782157682 CA8081035 |
374 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA281607154 rs988085395 |
375 | E>D | No |
ClinGen Ensembl |
|
|
rs1309276686 CA396071414 |
378 | N>D | No |
ClinGen TOPMed |
|
|
CA281607158 rs915105341 |
378 | N>I | No |
ClinGen gnomAD |
|
|
rs1333992880 CA396071431 |
379 | A>G | No |
ClinGen TOPMed |
|
|
COSM1211362 CA8081037 rs781997084 |
379 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 380 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369120357 CA8081039 |
380 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1472520897 CA396071454 |
381 | D>E | No |
ClinGen TOPMed |
|
|
rs1157611604 CA396071451 |
381 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs533676974 CA8081040 |
382 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA396071463 rs1178989046 |
383 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA8081043 rs368223207 |
384 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs782815927 COSM123837 CA8081042 |
384 | E>K | upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1555584459 CA396071501 |
388 | P>S | No |
ClinGen gnomAD |
|
|
CA8081044 rs781911609 |
391 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA8081045 rs371723394 |
392 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8081073 rs551982655 |
393 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs148834564 CA8081075 |
394 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 394 | R>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782585634 CA8081074 |
394 | R>W | No |
ClinGen ExAC gnomAD |
|
|
COSM1563583 CA8081076 rs143811277 |
395 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1366144313 CA396071844 |
396 | P>S | No |
ClinGen TOPMed |
|
|
CA396071855 rs1555584648 |
397 | P>T | No |
ClinGen gnomAD |
|
|
rs191441658 CA396071867 |
398 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8081079 rs191441658 |
398 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782120659 CA8081078 |
398 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1463978316 CA396071902 |
401 | E>Q | No |
ClinGen TOPMed |
|
|
rs781952433 CA8081080 |
403 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA8081081 rs782067668 |
403 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA396071955 rs1555584676 |
404 | P>L | No |
ClinGen gnomAD |
|
|
CA8081082 rs782688256 |
405 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs868981459 CA919715496 |
406 | P>L | No |
ClinGen Ensembl |
|
|
rs1567902749 CA396071974 |
406 | P>S | No |
ClinGen Ensembl |
|
|
CA8081083 rs782032906 |
407 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1268042944 CA396072003 |
409 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA8081085 rs201477611 |
410 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396072024 rs201477611 |
410 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8081122 rs782208957 |
411 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA396072111 rs1396156433 |
412 | A>V | No |
ClinGen TOPMed |
|
|
rs146799975 CA8081124 |
416 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146799975 CA396072132 |
416 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146799975 CA396072133 |
416 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1555585096 CA396072155 |
419 | K>R | No |
ClinGen gnomAD |
|
|
CA396072170 rs1427338582 |
421 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
rs139101999 CA8081125 |
422 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8081126 rs782397830 |
423 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396072184 rs1597831171 |
424 | M>V | No |
ClinGen Ensembl |
|
|
CA8081127 rs781988893 |
425 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA8081128 rs782099961 |
426 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396072225 rs1273392735 |
429 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1555585123 CA396072220 |
429 | P>S | No |
ClinGen gnomAD |
|
|
CA396072265 rs1555585233 |
434 | E>* | No |
ClinGen gnomAD |
|
|
CA281610777 rs978962893 |
435 | V>I | No |
ClinGen gnomAD |
|
|
rs782623281 CA8081161 |
437 | P>T | No |
ClinGen ExAC TOPMed |
|
|
CA396072287 rs782326704 |
438 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA8081163 rs782326704 |
438 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs782326704 CA8081164 |
438 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
COSM232576 rs781975210 CA8081162 |
438 | R>W | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1555585261 CA396072290 |
439 | P>S | No |
ClinGen gnomAD |
|
|
rs150516698 CA396072297 |
440 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs150516698 CA8081165 |
440 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1555585273 CA396072299 |
441 | V>M | No |
ClinGen gnomAD |
|
|
rs953705558 CA281610836 |
442 | V>A | No |
ClinGen Ensembl |
|
|
CA8081167 rs556601554 |
442 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA396072326 rs1555585293 |
445 | T>I | No |
ClinGen gnomAD |
|
|
CA8081170 rs781948981 |
446 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA8081169 rs782358804 |
446 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA8081172 rs538774365 |
448 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782133815 CA8081174 |
450 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8081175 rs782766591 |
450 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396072355 rs1567903521 |
451 | E>Q | No |
ClinGen Ensembl |
|
|
rs1287730673 CA396072364 |
452 | P>L | No |
ClinGen TOPMed |
|
|
CA8081176 RCV000895439 rs149569503 |
452 | P>S | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs144584147 CA8081177 |
453 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs148485253 CA8081178 |
453 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8081179 rs781790958 |
455 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA8081180 rs782547989 |
456 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA396072392 rs1555585333 |
457 | A>V | No |
ClinGen gnomAD |
|
|
CA396072400 rs1229440216 |
458 | T>I | No |
ClinGen TOPMed |
|
|
CA8081183 rs543243892 |
459 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA281610893 rs543243892 |
459 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs144075503 CA8081182 |
459 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1555585351 CA396072408 |
460 | N>H | No |
ClinGen gnomAD |
|
|
rs1555585359 CA396072417 |
460 | N>I | No |
ClinGen gnomAD |
|
|
rs1361186601 CA396072421 CA396072419 |
460 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1300310687 CA396072424 |
461 | E>K | No |
ClinGen TOPMed |
|
|
rs782212414 CA8081185 |
463 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA8081187 rs372101330 |
463 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396072471 rs1555585374 |
464 | G>E | No |
ClinGen gnomAD |
|
|
CA396072466 COSM3818164 rs868992794 |
464 | G>R | breast [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs782392478 CA8081189 |
465 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1425547943 CA396072500 |
467 | A>S | No |
ClinGen TOPMed |
|
|
rs373598141 CA8081191 |
469 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396072514 rs373598141 |
469 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396072527 rs1264654015 |
470 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1555585401 CA396072553 |
472 | P>S | No |
ClinGen gnomAD |
|
|
COSM3712052 CA396072643 rs377707580 |
474 | V>L | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA8081222 rs377707580 |
474 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8081223 rs370900595 |
475 | K>R | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1555585530 CA396072683 |
476 | I>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA8081224 rs139943151 |
477 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1468847705 CA396072724 |
478 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs375044096 CA8081226 |
481 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs368126099 CA8081227 |
481 | E>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA281611168 rs201815558 |
482 | L>P | No |
ClinGen Ensembl |
|
|
CA8081229 rs61729337 |
483 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs782354638 CA8081231 |
485 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8081232 rs781950610 |
488 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396072933 rs1555585574 |
491 | I>F | No |
ClinGen gnomAD |
|
|
rs782065389 CA8081233 |
492 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782300636 CA8081234 |
492 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs782065389 CA396072945 |
492 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1256632301 CA396072960 |
493 | K>T | No |
ClinGen TOPMed |
|
|
CA8081236 rs201307275 |
496 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
RCV001092932 CA8081237 rs201307275 |
496 | D>N | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs370579242 CA281611203 |
499 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs972892685 CA281611208 |
499 | C>W | No |
ClinGen Ensembl |
|
|
rs370579242 CA8081238 |
499 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1447246821 CA396073078 |
500 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA396073068 rs1555585605 |
500 | V>M | No |
ClinGen gnomAD |
|
|
CA8081239 rs782084184 |
501 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA396073101 rs1378767848 |
502 | L>F | No |
ClinGen TOPMed |
|
|
rs782736409 CA8081240 |
503 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA8081241 rs373753943 |
505 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs548452687 CA8081242 |
505 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA396073145 rs373753943 |
505 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396073160 rs1402352484 |
506 | H>D | No |
ClinGen TOPMed |
|
|
CA396073168 CA396073170 rs782666249 |
506 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555585633 CA396073184 |
507 | K>N | No |
ClinGen gnomAD |
|
|
CA8081244 rs140071939 |
508 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 510 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs569821357 CA8081246 |
511 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs569821357 CA8081245 |
511 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA396073231 rs1440720610 |
512 | V>M | No |
ClinGen TOPMed |
|
|
CA8081248 rs200708451 |
513 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782213832 CA8081247 |
513 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA396073255 rs1555585656 |
514 | A>T | No |
ClinGen gnomAD |
|
|
rs1555585657 CA396073266 |
514 | A>V | No |
ClinGen gnomAD |
|
|
CA8081250 rs782281915 |
516 | W>G | No |
ClinGen ExAC TOPMed |
|
|
rs782403673 CA8081251 |
518 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs145389285 CA8081253 |
520 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396073353 rs1260379578 |
520 | D>V | No |
ClinGen TOPMed |
|
|
CA8081296 rs142649985 |
523 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8081298 rs139242088 |
524 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782245581 CA8081300 |
525 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs1555585965 CA396073536 |
528 | A>T | No |
ClinGen gnomAD |
|
|
CA8081302 rs782605410 |
529 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1555585971 CA396073552 |
529 | V>L | No |
ClinGen gnomAD |
|
|
CA396073570 rs1555585981 |
530 | A>D | No |
ClinGen gnomAD |
|
|
CA8081303 rs782188948 |
530 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1555585985 CA396073579 |
531 | I>V | No |
ClinGen gnomAD |
|
|
CA396073695 rs1438873089 |
533 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1180478229 CA396073762 |
537 | V>L | No |
ClinGen TOPMed |
|
|
CA8081306 rs782142650 |
539 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1555585998 CA396073804 |
539 | D>G | No |
ClinGen gnomAD |
|
|
CA396073811 rs1459910230 |
540 | L>V | No |
ClinGen TOPMed |
|
|
rs1236450765 CA396073834 |
542 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA396074112 rs1210207156 |
543 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs781794269 CA8081312 |
544 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1555586025 CA396074135 |
545 | N>S | No |
ClinGen gnomAD |
|
|
rs782803998 CA8081314 |
546 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA8081315 rs781876484 |
547 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA8081317 rs552380941 |
548 | A>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8081316 rs552380941 |
548 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs782022705 CA8081331 |
552 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA8081332 rs782135380 |
557 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA8081333 rs782765587 |
558 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396074306 rs1555586111 |
558 | T>I | No |
ClinGen gnomAD |
|
|
rs781845628 CA8081334 |
559 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 561 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781787154 CA8081337 |
562 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs201874902 CA281611740 |
563 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs201874902 CA396074336 |
563 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA281611749 rs1024602813 |
568 | Q>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 569 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 570 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782529815 CA8081362 |
575 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8081364 rs782248648 |
577 | T>A | No |
ClinGen ExAC gnomAD |
|
|
COSM1378598 CA8081365 rs11555150 |
577 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs782203849 CA8081367 |
579 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555586480 CA396074469 |
580 | T>N | No |
ClinGen gnomAD |
|
|
rs1597832588 CA396074468 |
580 | T>P | No |
ClinGen Ensembl |
|
|
rs1555586486 CA396074481 |
582 | L>P | No |
ClinGen gnomAD |
|
|
CA8081368 rs782308125 |
583 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8081369 rs782029453 |
584 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782268483 CA8081370 |
587 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA396074515 rs782377425 |
588 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8081371 rs782377425 |
588 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 588 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8081372 rs1802280 |
589 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA281612030 rs1802280 |
589 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA8081374 rs782727772 |
591 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1555586545 CA396074530 |
591 | P>S | No |
ClinGen Ensembl |
|
|
CA396074538 rs1555586559 |
592 | L>P | No |
ClinGen gnomAD |
|
|
CA396074564 CA396074565 rs1555586586 |
596 | M>I | No |
ClinGen gnomAD |
|
|
rs782797450 CA8081377 |
596 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA8081376 rs782170597 |
596 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs781873816 CA8081378 |
597 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs202016179 CA8081380 |
598 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs202016179 CA8081379 |
598 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA396074577 rs1359087086 |
599 | A>S | No |
ClinGen TOPMed |
|
|
rs191513672 CA281612058 |
600 | P>T | No |
ClinGen 1000Genomes |
|
|
CA396074590 rs1158407969 |
601 | P>L | No |
ClinGen TOPMed |
|
|
rs369796360 CA8081382 |
604 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8081383 rs782573019 |
606 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA8081384 rs782573019 |
606 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA396074686 rs1411932825 |
614 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
CA8081405 rs141820607 |
614 | H>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8081404 rs141820607 |
614 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150194868 CA8081406 |
616 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8081407 rs138061957 |
617 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1555586959 CA396074706 |
617 | R>W | No |
ClinGen gnomAD |
|
|
rs1396624588 CA396074726 |
620 | Y>S | No |
ClinGen TOPMed |
|
|
CA8081408 rs782277537 |
621 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA396074758 rs1555586980 |
624 | K>N | No |
ClinGen gnomAD |
|
|
CA8081410 rs782636182 |
627 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA8081411 rs782233520 CA396074780 |
627 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8081413 rs781942358 |
628 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555587026 CA396074808 |
632 | S>N | No |
ClinGen gnomAD |
|
|
CA8081415 rs782420846 |
633 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA396074843 rs1200639473 |
637 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA396074847 rs1555587051 |
638 | G>D | No |
ClinGen gnomAD |
|
|
CA8081417 rs556989554 |
638 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8081418 rs142661420 |
639 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8081419 rs146041842 |
639 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs545870830 CA8081420 |
640 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1555587078 CA396074864 |
641 | G>D | No |
ClinGen gnomAD |
|
|
rs782539949 CA8081421 |
642 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1597833573 CA396074872 |
642 | S>R | No |
ClinGen Ensembl |
|
|
rs782539949 CA8081422 |
642 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1310552933 CA396074881 |
644 | F>L | No |
ClinGen TOPMed |
|
|
CA8081423 rs139909887 COSM3948605 |
645 | R>C | ovary [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA396074889 rs1567905235 |
645 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA8081424 rs564320118 |
646 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1555587115 CA396074906 |
648 | H>Y | No |
ClinGen gnomAD |
|
|
CA396074912 rs1555587128 |
649 | L>V | No |
ClinGen gnomAD |
|
|
CA8081428 rs782207322 |
652 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396074938 rs1418790028 |
653 | S>G | No |
ClinGen TOPMed gnomAD |
1 associated diseases with Q9BVA0
[MIM: 616212]: Lissencephaly 6, with microcephaly (LIS6)
A form of lissencephaly, a disorder of cortical development characterized by agyria or pachygyria and disorganization of the clear neuronal lamination of normal six-layered cortex. LIS6 features include hypoplasia of the corpus callosum, severe microcephaly and developmental delay. {ECO:0000269|PubMed:25521378, ECO:0000269|PubMed:25521379}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of lissencephaly, a disorder of cortical development characterized by agyria or pachygyria and disorganization of the clear neuronal lamination of normal six-layered cortex. LIS6 features include hypoplasia of the corpus callosum, severe microcephaly and developmental delay. {ECO:0000269|PubMed:25521378, ECO:0000269|PubMed:25521379}. Note=The disease is caused by variants affecting the gene represented in this entry.
8 regional properties for Q9BVA0
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | WD40 repeat | 9 - 258 | IPR001680 |
| conserved_site | WD40 repeat, conserved site | 120 - 134 | IPR019775-1 |
| conserved_site | WD40 repeat, conserved site | 162 - 176 | IPR019775-2 |
| conserved_site | WD40 repeat, conserved site | 204 - 218 | IPR019775-3 |
| repeat | G-protein beta WD-40 repeat | 120 - 134 | IPR020472-1 |
| repeat | G-protein beta WD-40 repeat | 162 - 176 | IPR020472-2 |
| repeat | G-protein beta WD-40 repeat | 204 - 218 | IPR020472-3 |
| domain | Katanin p80 subunit, C-terminal | 493 - 651 | IPR028021 |
Functions
14 GO annotations of cellular component
| Name | Definition |
|---|---|
| centrosome | A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| growth cone | The migrating motile tip of a growing neuron projection, where actin accumulates, and the actin cytoskeleton is the most dynamic. |
| katanin complex | A complex possessing an activity that couples ATP hydrolysis to the severing of microtubules; usually a heterodimer comprising a catalytic subunit (often 60kDa) and a regulatory subunit (often 80 kDa). |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| 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. |
| midbody | A thin cytoplasmic bridge formed between daughter cells at the end of cytokinesis. The midbody forms where the contractile ring constricts, and may persist for some time before finally breaking to complete cytokinesis. |
| neuronal cell body | The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| spindle | The array of microtubules and associated molecules that forms between opposite poles of a eukaryotic cell during mitosis or meiosis and serves to move the duplicated chromosomes apart. |
| spindle pole | Either of the ends of a spindle, where spindle microtubules are organized; usually contains a microtubule organizing center and accessory molecules, spindle microtubules and astral microtubules. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATPase regulator activity | Binds to and modulates the activity of an ATP hydrolysis activity. |
| dynein complex binding | Binding to a dynein complex, a protein complex that contains two or three dynein heavy chains and several light chains, and has microtubule motor activity. |
| microtubule binding | Binding to a microtubule, a filament composed of tubulin monomers. |
| protein heterodimerization activity | Binding to a nonidentical protein to form a heterodimer. |
10 GO annotations of biological process
| Name | Definition |
|---|---|
| cell division | The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells. |
| cytoplasmic microtubule organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of structures formed of microtubules and associated proteins in the cytoplasm of a cell. |
| microtubule depolymerization | The removal of tubulin heterodimers from one or both ends of a microtubule. |
| microtubule severing | The process in which a microtubule is broken down into smaller segments. Severing enzymes remove dimers from the middle of the filament to create new ends, unlike depolymerizing kinesins that use ATP to uncap microtubules at their ends. |
| mitotic chromosome movement towards spindle pole | The cell cycle process in which the directed movement of chromosomes from the center of the spindle towards the spindle poles occurs. This mediates by the shortening of microtubules attached to the chromosomes, during mitosis. |
| negative regulation of microtubule depolymerization | Any process that stops, prevents, or reduces the frequency, rate or extent of microtubule depolymerization; prevention of depolymerization of a microtubule can result from binding by 'capping' at the plus end (e.g. by interaction with another cellular protein of structure) or by exposing microtubules to a stabilizing drug such as taxol. |
| positive regulation of cell death | Any process that increases the rate or frequency of cell death. Cell death is the specific activation or halting of processes within a cell so that its vital functions markedly cease, rather than simply deteriorating gradually over time, which culminates in cell death. |
| positive regulation of microtubule depolymerization | Any process that activates or increases the frequency, rate or extent of microtubule depolymerization. |
| positive regulation of neuron projection development | Any process that increases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). |
| protein targeting | The process of targeting specific proteins to particular regions of the cell, typically membrane-bounded subcellular organelles. Usually requires an organelle specific protein sequence motif. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8C7V3 | Utp15 | U3 small nucleolar RNA-associated protein 15 homolog | Mus musculus (Mouse) | PR |
| Q8BG40 | Katnb1 | Katanin p80 WD40 repeat-containing subunit B1 | Mus musculus (Mouse) | PR |
| Q9CWJ3 | Katnbl1 | KATNB1-like protein 1 | Mus musculus (Mouse) | PR |
| A2RRU3 | Utp15 | U3 small nucleolar RNA-associated protein 15 homolog | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MATPVVTKTA | WKLQEIVAHA | SNVSSLVLGK | ASGRLLATGG | DDCRVNLWSI | NKPNCIMSLT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GHTSPVESVR | LNTPEELIVA | GSQSGSIRVW | DLEAAKILRT | LMGHKANICS | LDFHPYGEFV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ASGSQDTNIK | LWDIRRKGCV | FRYRGHSQAV | RCLRFSPDGK | WLASAADDHT | VKLWDLTAGK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| MMSEFPGHTG | PVNVVEFHPN | EYLLASGSSD | RTIRFWDLEK | FQVVSCIEGE | PGPVRSVLFN |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PDGCCLYSGC | QDSLRVYGWE | PERCFDVVLV | NWGKVADLAI | CNDQLIGVAF | SQSNVSSYVV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| DLTRVTRTGT | VARDPVQDHR | PLAQPLPNPS | APLRRIYERP | STTCSKPQRV | KQNSESERRS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PSSEDDRDER | ESRAEIQNAE | DYNEIFQPKN | SISRTPPRRS | EPFPAPPEDD | AATAKEAAKP |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SPAMDVQFPV | PNLEVLPRPP | VVASTPAPKA | EPAIIPATRN | EPIGLKASDF | LPAVKIPQQA |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ELVDEDAMSQ | IRKGHDTMCV | VLTSRHKNLD | TVRAVWTMGD | IKTSVDSAVA | INDLSVVVDL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LNIVNQKASL | WKLDLCTTVL | PQIEKLLQSK | YESYVQTGCT | SLKLILQRFL | PLITDMLAAP |
| 610 | 620 | 630 | 640 | 650 | |
| PSVGVDISRE | ERLHKCRLCY | KQLKSISGLV | KSKSGLSGRH | GSTFRELHLL | MASLD |