Q14183
Gene name |
DOC2A |
Protein name |
Double C2-like domain-containing protein alpha |
Names |
Doc2, Doc2-alpha |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8448 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
2 structures for Q14183
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4MJJ | X-ray | 200 A | A | 81-217 | PDB |
| AF-Q14183-F1 | Predicted | AlphaFoldDB |
359 variants for Q14183
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| TCGA novel | 1 | M>? | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1199858945 CA395554661 |
4 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs566408074 CA8000271 |
4 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8000269 rs764874832 |
5 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs751345208 CA8000268 |
5 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8000266 rs764049396 |
6 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763993103 CA8000262 |
7 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395554612 rs763993103 |
7 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs763993103 CA8000263 |
7 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8000261 rs547661048 |
8 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8000260 rs771071631 |
8 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA280432579 rs771071631 |
8 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395554573 rs749341101 CA395554578 |
9 | M>L | No |
ClinGen ExAC TOPMed |
|
|
CA8000259 rs749341101 |
9 | M>V | No |
ClinGen ExAC TOPMed |
|
|
rs777748448 CA8000258 |
11 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA8000257 rs756614880 |
15 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs755268552 CA395554339 |
21 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8000253 rs755268552 |
21 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395554282 rs1178069627 |
24 | G>R | No |
ClinGen gnomAD |
|
|
CA8000249 rs753354648 |
27 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM255917 rs1008963632 CA280432494 |
27 | R>W | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA8000248 rs763558398 |
30 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA8000247 rs140407692 |
30 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1238273782 CA395554139 |
32 | I>L | No |
ClinGen gnomAD |
|
|
CA8000245 rs752752634 |
32 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
TCGA novel CA280432430 rs922351244 |
38 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed gnomAD NCI-TCGA |
|
rs759347857 CA8000244 |
38 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs759347857 CA8000243 |
38 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA395554007 rs922351244 |
38 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA8000242 rs774311560 |
39 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8000241 rs771145635 |
40 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA395553942 rs1217537559 |
42 | P>T | No |
ClinGen TOPMed |
|
|
rs200955492 CA8000240 |
44 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200955492 CA395553897 |
44 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs993460814 CA280432409 |
44 | G>W | No |
ClinGen Ensembl |
|
|
rs1380522223 CA395553883 |
45 | G>D | No |
ClinGen gnomAD |
|
|
rs773327302 CA8000239 |
45 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA8000237 rs201903058 |
46 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201903058 CA8000236 |
46 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1490556443 CA395553868 |
46 | G>V | No |
ClinGen TOPMed |
|
|
CA8000234 rs200009355 CA395553861 |
47 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1140239 CA8000233 |
48 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA395553832 rs1171260969 |
48 | G>D | No |
ClinGen TOPMed |
|
|
CA8000231 rs1140239 RCV000948977 VAR_019656 |
48 | G>S | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs371010624 CA8000229 |
49 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8000225 rs199677332 |
50 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8000224 rs751370717 |
50 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA8000226 rs199677332 |
50 | G>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1377321 CA8000219 rs763231450 CA395553762 |
51 | E>D | Variant assessed as Somatic; impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1043130237 CA8000220 |
51 | E>G | No |
ClinGen Ensembl |
|
|
CA395553743 rs770068218 |
52 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770068218 CA8000216 |
52 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 52 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs925609520 CA280432207 |
52 | A>T | No |
ClinGen Ensembl |
|
|
CA8000217 rs770068218 |
52 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8000214 rs200173913 |
53 | P>S | No |
ClinGen 1000Genomes ExAC |
|
|
CA8000210 rs200685888 |
54 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8000212 rs200685888 |
54 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8000208 rs780451648 |
55 | H>P | No |
ClinGen ExAC |
|
|
rs1336102133 CA395553695 |
55 | H>Y | No |
ClinGen gnomAD |
|
|
CA395553649 rs1360825803 |
57 | V>A | No |
ClinGen gnomAD |
|
|
CA280432137 rs375607573 |
58 | P>R | No |
ClinGen Ensembl |
|
|
CA395553633 rs1456021872 |
58 | P>S | No |
ClinGen gnomAD |
|
|
CA395553596 rs1367105338 |
60 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA395553594 rs1367105338 COSM1250509 |
60 | A>V | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1263946635 CA395553563 |
62 | A>D | No |
ClinGen TOPMed |
|
|
CA395553548 rs1475824809 |
63 | P>S | No |
ClinGen gnomAD |
|
|
CA8000197 rs745882272 |
64 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1294442991 CA395553531 |
64 | P>L | No |
ClinGen TOPMed gnomAD |
|
| rs753153258 | 64 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1294442991 CA395553532 |
64 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs745882272 CA395553539 |
64 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8000198 rs745882272 |
64 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs753153258 | 65 | A>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1487993007 COSM74418 CA395553521 |
65 | A>V | ovary Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1262745200 CA395553511 |
66 | A>G | No |
ClinGen gnomAD |
|
|
CA8000192 rs148245512 |
67 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA395553504 rs1487601103 |
67 | L>H | No |
ClinGen gnomAD |
|
|
CA395553498 rs1426914858 |
68 | L>F | No |
ClinGen TOPMed |
|
|
CA8000191 rs751515684 |
68 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA395553476 rs4566183 |
71 | T>A | No |
ClinGen Ensembl |
|
|
rs4566183 CA280432025 |
71 | T>P | No |
ClinGen Ensembl |
|
|
CA8000189 rs758069645 |
72 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs750254693 CA8000188 |
74 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1326532798 CA395553412 |
75 | D>N | No |
ClinGen gnomAD |
|
|
rs546020288 CA8000186 |
77 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA395553361 rs1314252305 |
79 | V>A | No |
ClinGen TOPMed |
|
|
CA395553358 rs1314252305 |
79 | V>G | No |
ClinGen TOPMed |
|
|
rs764214638 CA395553349 |
80 | D>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 82 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 83 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8000182 rs775797559 COSM1377319 |
84 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA8000180 rs369604822 |
85 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA395553264 rs1316486452 |
85 | D>H | No |
ClinGen TOPMed |
|
|
rs1373741383 CA395553253 |
86 | D>Y | No |
ClinGen gnomAD |
|
|
rs769541112 CA8000178 |
87 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774811229 CA395553225 |
87 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs774811229 CA8000179 |
87 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA395553216 rs1266924716 |
88 | T>P | No |
ClinGen gnomAD |
|
|
CA395552808 rs754124502 |
89 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754124502 CA8000166 |
89 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395552804 rs1343641608 |
89 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 91 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395552787 rs1236071497 |
91 | G>D | No |
ClinGen gnomAD |
|
|
CA280431524 rs1140240 |
92 | T>K | No |
ClinGen gnomAD |
|
|
CA280431521 rs1140240 |
92 | T>M | No |
ClinGen gnomAD |
|
|
rs767876453 CA395552695 |
99 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775662234 CA8000163 |
99 | Y>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 99 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA280431503 rs933220946 |
100 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs933220946 CA280431504 |
100 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs200020237 CA8000161 |
101 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA280431497 rs919119708 |
101 | R>W | No |
ClinGen Ensembl |
|
|
rs1278562286 CA395552675 |
102 | A>T | No |
ClinGen TOPMed |
|
|
CA395552640 rs1378689036 |
104 | C>W | No |
ClinGen gnomAD |
|
|
rs1255445918 CA395552609 |
107 | H>Q | No |
ClinGen gnomAD |
|
|
CA395552565 rs1470378618 |
111 | L>F | No |
ClinGen gnomAD |
|
|
CA395552562 rs1234575677 |
111 | L>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 111 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395552557 rs1441723310 |
112 | R>K | No |
ClinGen gnomAD |
|
|
CA8000142 rs767004365 |
115 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA395552451 rs1431769712 |
118 | P>S | No |
ClinGen gnomAD |
|
|
CA395552445 rs1490582190 |
119 | M>V | No |
ClinGen TOPMed |
|
|
rs1201616208 CA395552423 |
120 | D>G | No |
ClinGen TOPMed |
|
|
rs1347118535 CA395552406 |
121 | F>L | No |
ClinGen gnomAD |
|
|
rs888805591 CA280431244 |
122 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs867280784 CA395552386 |
123 | G>D | No |
ClinGen gnomAD |
|
|
rs1460719308 CA395552390 |
123 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA280431241 rs867280784 |
123 | G>V | No |
ClinGen gnomAD |
|
|
rs1476771800 CA395552370 |
125 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA8000138 rs372290822 |
126 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8000135 rs1364504112 |
129 | V>I | No |
ClinGen TOPMed |
|
|
rs1274158185 CA395552306 |
132 | H>Y | No |
ClinGen gnomAD |
|
|
rs1272384491 CA395552266 |
135 | P>L | No |
ClinGen gnomAD |
|
|
rs1215237040 CA395552256 |
137 | A>D | No |
ClinGen gnomAD |
|
| TCGA novel | 137 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1215237040 CA395552254 |
137 | A>V | No |
ClinGen gnomAD |
|
|
CA8000111 rs777535448 |
140 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8000110 rs769699664 |
141 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs781424313 CA8000108 |
142 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8000107 rs755183524 |
142 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA280431121 rs948108194 |
144 | K>R | No |
ClinGen Ensembl |
|
|
CA8000106 rs747051337 |
145 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs1210242780 CA395552185 |
146 | K>N | No |
ClinGen gnomAD |
|
|
rs200073865 CA8000104 |
148 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs141230451 CA8000103 |
149 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA395552150 rs1305080428 |
152 | L>M | No |
ClinGen TOPMed |
|
|
CA8000102 rs765665192 |
154 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1567281609 CA395552127 |
155 | V>G | No |
ClinGen Ensembl |
|
|
rs377448847 CA8000101 |
156 | W>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8000099 rs200640037 |
159 | D>H | No |
ClinGen 1000Genomes ExAC |
|
|
rs200874282 CA8000096 |
163 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs762875731 CA8000095 |
164 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 165 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1159116238 CA395552053 |
166 | T>R | No |
ClinGen TOPMed |
|
|
CA395552035 rs1363595453 |
169 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs747932681 CA395552017 |
171 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747932681 CA8000092 |
171 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8000090 rs768972930 |
173 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs747292511 CA8000089 |
174 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1485633066 CA395551993 |
175 | L>F | No |
ClinGen gnomAD |
|
|
rs199801773 CA8000062 |
177 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs371808877 CA395550532 |
178 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371808877 COSM184913 CA8000060 |
178 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA8000059 rs367572265 |
179 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139432976 CA8000058 |
181 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA395550455 rs139432976 |
181 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8000057 rs764708447 |
182 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA280428877 rs191060572 |
187 | H>P | No |
ClinGen 1000Genomes |
|
|
CA395550145 rs1452760999 |
188 | N>D | No |
ClinGen gnomAD |
|
|
rs1031612341 CA280428871 |
188 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs765857200 CA280428854 |
190 | F>I | No |
ClinGen Ensembl |
|
|
CA8000055 rs753651850 |
191 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395550042 rs1368195930 |
192 | G>R | No |
ClinGen Ensembl |
|
|
CA395550040 rs1368195930 |
192 | G>W | No |
ClinGen Ensembl |
|
|
rs775802877 CA280428838 |
193 | E>* | No |
ClinGen Ensembl |
|
|
CA8000053 rs142406537 |
195 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8000052 rs374821872 |
195 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA395549927 rs1339517579 |
196 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA395549853 rs1231639597 |
199 | R>C | Variant assessed as Somatic; 4.645e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM184912 CA395549849 rs1346621524 |
199 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA8000048 rs770987510 |
200 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs147170771 CA8000047 |
200 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8000046 rs200639006 |
204 | S>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1185050003 CA395549723 |
205 | Q>E | No |
ClinGen TOPMed |
|
|
rs139431507 CA8000044 |
207 | K>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1169654140 CA395549649 |
207 | K>R | No |
ClinGen gnomAD |
|
| rs1051175353 | 207 | K>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781582421 CA8000043 |
208 | H>Q | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 208 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8000042 rs758051622 |
211 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 212 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395549502 rs778631184 |
214 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1301850 CA8000040 rs778631184 |
214 | E>K | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA8000039 rs756663763 |
215 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753409511 CA8000038 |
215 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1485174083 CA395549382 |
218 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1485174083 CA395549384 |
218 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1390800519 CA395549236 |
220 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs773264300 CA8000011 |
220 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1390800519 CA395549229 |
220 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA8000009 rs761882236 |
221 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs945021350 CA280428429 |
221 | S>P | No |
ClinGen Ensembl |
|
|
CA395549094 rs1596697451 |
225 | M>I | No |
ClinGen Ensembl |
|
|
CA395549100 rs1417682646 |
225 | M>T | No |
ClinGen gnomAD |
|
|
rs1417970643 CA395549117 |
225 | M>V | No |
ClinGen gnomAD |
|
|
CA8000008 rs202009086 |
227 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs747294200 CA8000006 |
228 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8000004 rs770468720 |
229 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1238850129 CA395548904 |
231 | G>D | No |
ClinGen gnomAD |
|
|
CA395548924 rs1212381611 |
231 | G>S | No |
ClinGen gnomAD |
|
|
CA395548875 rs1334694323 |
232 | I>T | No |
ClinGen gnomAD |
|
|
rs1485800947 CA395548831 |
233 | S>C | No |
ClinGen TOPMed |
|
|
CA395548793 rs1190528771 |
234 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
CA395548712 rs1445937607 |
236 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs529504458 CA7999981 |
239 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 241 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772945741 CA7999979 |
242 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1276009424 CA395548222 |
243 | E>K | No |
ClinGen Ensembl |
|
|
rs780797462 CA7999976 |
245 | G>E | No |
ClinGen ExAC TOPMed |
|
|
rs1479913833 CA395548169 |
245 | G>R | No |
ClinGen gnomAD |
|
|
CA395548123 rs1455461634 |
246 | Q>H | No |
ClinGen TOPMed |
|
|
CA395548105 rs1166894887 |
247 | G>E | No |
ClinGen TOPMed |
|
| TCGA novel | 251 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7999973 rs747032028 |
252 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA280428116 rs1013155790 |
252 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA280428114 rs958889356 |
253 | G>S | No |
ClinGen Ensembl |
|
|
CA7999972 rs779856487 |
254 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA395547934 rs1233786472 |
254 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs948766956 CA280428087 |
260 | S>R | No |
ClinGen TOPMed |
|
|
CA395547688 rs1303061951 |
260 | S>T | No |
ClinGen gnomAD |
|
|
CA395547556 rs1433374595 |
262 | S>G | No |
ClinGen TOPMed |
|
|
rs1596696321 CA395547511 |
263 | S>A | No |
ClinGen Ensembl |
|
|
rs1372518536 CA395547472 |
263 | S>L | No |
ClinGen gnomAD |
|
|
rs200593523 CA395547455 |
264 | R>P | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs200593523 CA280428079 |
264 | R>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA395547460 rs1411105634 |
264 | R>W | No |
ClinGen gnomAD |
|
|
CA7999971 rs758127824 |
265 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM969753 CA7999970 rs200195038 |
265 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs200195038 CA395547438 |
265 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs370463371 CA7999969 |
266 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7999967 rs764293462 |
266 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7999966 rs764293462 |
266 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7999968 rs370463371 |
266 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1407880154 CA395547388 |
267 | G>E | No |
ClinGen gnomAD |
|
|
rs924400068 CA280428005 |
268 | L>M | No |
ClinGen TOPMed |
|
|
CA395547291 rs1596696093 |
270 | V>G | No |
ClinGen Ensembl |
|
|
CA395547311 rs1255426896 |
270 | V>I | No |
ClinGen gnomAD |
|
|
CA7999957 rs750445623 COSM1377317 |
274 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs372195259 CA7999956 |
274 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA395547169 rs138648401 |
275 | C>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1404886249 CA395547183 |
275 | C>G | No |
ClinGen TOPMed |
|
|
CA7999954 COSM969752 rs746511437 |
276 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA280427935 rs1053656341 |
279 | A>P | No |
ClinGen Ensembl |
|
|
CA395546931 rs1292072657 |
281 | M>T | No |
ClinGen gnomAD |
|
|
CA395546884 rs1466702664 |
282 | D>G | No |
ClinGen gnomAD |
|
|
rs868497849 CA280427921 |
283 | V>I | No |
ClinGen gnomAD |
|
|
rs745632160 CA7999951 |
284 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7999949 rs757458777 |
285 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395546723 rs757458777 |
285 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs754156022 CA7999948 |
287 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA280427879 rs932559546 |
288 | D>G | No |
ClinGen Ensembl |
|
|
rs777865019 CA395546537 |
289 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs777865019 CA7999947 |
289 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs752745032 CA7999945 |
291 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA7999944 rs768100473 |
293 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1392987344 CA395546021 |
294 | Y>C | No |
ClinGen gnomAD |
|
|
CA395546003 rs1461734700 |
295 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1170313086 CA395545936 |
297 | P>R | No |
ClinGen gnomAD |
|
|
rs201869632 CA7999916 |
298 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1171203765 CA395545856 |
299 | V>M | No |
ClinGen TOPMed |
|
|
CA395545776 rs1424977067 |
301 | K>R | No |
ClinGen TOPMed |
|
|
rs767081640 CA7999913 |
303 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs759051329 CA7999912 |
305 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395545567 rs1231024377 |
306 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs774218602 CA7999911 |
307 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1203577523 CA395545542 |
308 | C>R | No |
ClinGen gnomAD |
|
|
rs1203577523 CA395545543 |
308 | C>S | No |
ClinGen gnomAD |
|
|
rs1307290992 CA395545540 |
308 | C>Y | No |
ClinGen TOPMed |
|
|
rs958960976 CA280427492 |
309 | V>A | No |
ClinGen Ensembl |
|
|
rs141745734 CA7999908 |
312 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1596694979 CA395545372 |
314 | L>V | No |
ClinGen Ensembl |
|
|
CA7999906 rs770039657 |
315 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA7999905 rs748379668 |
316 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA7999904 rs199609144 |
317 | E>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1003047711 CA280427380 |
320 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs943904014 CA280427243 |
321 | E>D | No |
ClinGen Ensembl |
|
|
rs1208650859 CA395544926 |
321 | E>Q | No |
ClinGen gnomAD |
|
|
CA395544879 rs1461718569 |
322 | F>V | No |
ClinGen TOPMed |
|
|
CA7999875 rs376856265 |
325 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7999874 rs374239439 COSM3706994 |
326 | I>T | liver [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA395544636 rs1209043928 |
328 | L>F | No |
ClinGen gnomAD |
|
|
rs750267367 CA7999872 |
328 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1328224563 CA395544597 |
330 | T>A | No |
ClinGen TOPMed |
|
|
CA7999871 rs765238797 |
331 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs190387347 CA280427184 |
332 | A>T | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1047619160 CA280427172 |
332 | A>V | No |
ClinGen Ensembl |
|
| TCGA novel | 333 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395544475 rs1162234115 |
334 | K>N | No |
ClinGen gnomAD |
|
|
rs888609715 CA280427162 |
337 | E>G | No |
ClinGen TOPMed |
|
|
CA395544395 rs1293139314 |
338 | V>I | No |
ClinGen TOPMed |
|
|
rs200796383 CA7999868 |
340 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1281201112 CA395544295 |
342 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA7999867 rs761033571 |
345 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7999866 rs200732948 |
348 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA395544149 rs1315131951 |
350 | D>N | No |
ClinGen gnomAD |
|
|
rs866898989 CA280427132 |
351 | F>L | No |
ClinGen Ensembl |
|
|
rs1368194142 CA395543966 |
354 | G>S | No |
ClinGen gnomAD |
|
|
rs370177489 CA7999845 |
355 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7999844 rs774531629 |
357 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs771408208 CA7999843 |
359 | P>S | No |
ClinGen ExAC |
|
|
rs868040487 CA280426859 |
360 | G>D | No |
ClinGen gnomAD |
|
|
CA395543852 rs1431191756 |
360 | G>S | No |
ClinGen gnomAD |
|
|
CA7999842 rs749855078 |
361 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1418218701 CA395543806 |
362 | R>* | No |
ClinGen TOPMed |
|
|
rs145044673 CA7999840 |
362 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA395543790 rs1365377544 |
363 | G>D | No |
ClinGen TOPMed |
|
|
CA280426828 rs1020441474 |
363 | G>S | No |
ClinGen Ensembl |
|
|
CA7999837 rs779529166 |
364 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs141323522 CA7999838 |
364 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA7999836 rs758106842 |
365 | A>G | No |
ClinGen ExAC gnomAD |
|
|
COSM1377315 CA7999834 rs373250621 |
366 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs745345298 CA7999835 |
366 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395543716 rs1413992319 |
368 | H>R | No |
ClinGen gnomAD |
|
|
rs757255333 CA7999833 |
369 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395543661 rs1596693406 |
370 | S>R | No |
ClinGen Ensembl |
|
|
rs1032013453 CA280426760 |
370 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs753760872 CA7999832 |
371 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1392539984 CA395543614 |
373 | L>M | No |
ClinGen TOPMed |
|
|
rs1288366739 CA395543565 |
375 | Q>* | No |
ClinGen gnomAD |
|
|
CA7999829 rs147113011 |
376 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs34246709 CA7999828 RCV000899722 |
376 | P>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs774283753 CA7999826 |
377 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA7999824 rs763028825 |
378 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7999823 rs773655247 |
378 | A>V | No |
ClinGen ExAC TOPMed |
|
|
rs1411340246 CA395543468 |
379 | A>V | No |
ClinGen gnomAD |
|
|
CA395543460 rs1160000509 |
380 | L>Q | No |
ClinGen gnomAD |
|
|
rs770312614 CA7999822 |
381 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7999821 rs200262965 |
382 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs372707859 CA7999820 |
382 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 384 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1206758211 CA395543347 |
386 | L>M | No |
ClinGen gnomAD |
|
|
CA7999819 rs771608798 |
387 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7999818 rs745598816 |
388 | S>N | No |
ClinGen ExAC |
|
|
rs778711572 CA7999817 |
389 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1311596773 CA395543257 |
391 | P>H | No |
ClinGen gnomAD |
|
|
rs1332287408 CA395543265 |
391 | P>S | No |
ClinGen gnomAD |
|
|
CA7999816 RCV000949386 rs202062683 |
392 | P>A | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA280426647 rs1023098414 |
392 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA395543244 rs202062683 |
392 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs375622019 CA7999815 |
393 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1388512952 CA395543217 |
394 | A>T | No |
ClinGen gnomAD |
|
|
CA7999813 rs756118173 |
395 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1366756681 CA395543173 |
396 | A>V | No |
ClinGen gnomAD |
|
|
rs752413969 CA7999812 |
398 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1164353324 CA395543145 |
398 | S>P | No |
ClinGen gnomAD |
|
|
CA395543113 rs1415768204 |
399 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA7999811 rs201177833 |
400 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7999810 rs755154600 |
401 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q14183
1 regional properties for Q14183
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | AP2/ERF domain | 53 - 117 | IPR001471 |
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| anchoring junction | A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix. |
| cell junction | A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella. |
| extrinsic component of synaptic vesicle membrane | The component of the synaptic vesicle membrane consisting of gene products and protein complexes that are loosely bound to one of its surfaces, but not integrated into the hydrophobic region. |
| lysosome | A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions. |
| neuron projection | A prolongation or process extending from a nerve cell, e.g. an axon or dendrite. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| synapse | The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| calcium ion binding | Binding to a calcium ion (Ca2+). |
| calcium-dependent phospholipid binding | Binding to a phospholipid, a class of lipids containing phosphoric acid as a mono- or diester, in the presence of calcium. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| chemical synaptic transmission | The vesicular release of classical neurotransmitter molecules from a presynapse, across a chemical synapse, the subsequent activation of neurotransmitter receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse. |
| exocytosis | A process of secretion by a cell that results in the release of intracellular molecules (e.g. hormones, matrix proteins) contained within a membrane-bounded vesicle. Exocytosis can occur either by full fusion, when the vesicle collapses into the plasma membrane, or by a kiss-and-run mechanism that involves the formation of a transient contact, a pore, between a granule (for exemple of chromaffin cells) and the plasma membrane. The latter process most of the time leads to only partial secretion of the granule content. Exocytosis begins with steps that prepare vesicles for fusion with the membrane (tethering and docking) and ends when molecules are secreted from the cell. |
| nervous system development | The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state. |
| regulation of calcium ion-dependent exocytosis | Any process that modulates the frequency, rate or extent of calcium ion-dependent exocytosis. |
| spontaneous neurotransmitter secretion | Neurotransmitter secretion that occurs in the absence of the action of a secretagogue or a presynaptic action potential. |
| synaptic vesicle exocytosis | Fusion of intracellular membrane-bounded vesicles with the pre-synaptic membrane of the neuronal cell resulting in release of neurotransmitter into the synaptic cleft. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q06846 | RPH3A | Rabphilin-3A | Bos taurus (Bovine) | PR |
| Q9Y2J0 | RPH3A | Rabphilin-3A | Homo sapiens (Human) | PR |
| P47708 | Rph3a | Rabphilin-3A | Mus musculus (Mouse) | PR |
| Q7TNF0 | Doc2a | Double C2-like domain-containing protein alpha | Mus musculus (Mouse) | PR |
| P47709 | Rph3a | Rabphilin-3A | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MRGRRGDRMT | INIQEHMAIN | VCPGPIRPIR | QISDYFPRGP | GPEGGGGGGG | EAPAHLVPLA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LAPPAALLGA | TTPEDGAEVD | SYDSDDATAL | GTLEFDLLYD | RASCTLHCSI | LRAKGLKPMD |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FNGLADPYVK | LHLLPGACKA | NKLKTKTQRN | TLNPVWNEDL | TYSGITDDDI | THKVLRIAVC |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DEDKLSHNEF | IGEIRVPLRR | LKPSQKKHFN | ICLERQVPLA | SPSSMSAALR | GISCYLKELE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QAEQGQGLLE | ERGRILLSLS | YSSRRRGLLV | GILRCAHLAA | MDVNGYSDPY | VKTYLRPDVD |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KKSKHKTCVK | KKTLNPEFNE | EFFYEIELST | LATKTLEVTV | WDYDIGKSND | FIGGVSLGPG |
| 370 | 380 | 390 | |||
| ARGEARKHWS | DCLQQPDAAL | ERWHTLTSEL | PPAAGALSSA |