Q9H1V8
PR
Gene name |
SLC6A17 (NTT4) |
Protein name |
Sodium-dependent neutral amino acid transporter SLC6A17 |
Names |
Sodium-dependent neurotransmitter transporter NTT4, Solute carrier family 6 member 17 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:388662 |
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 Q9H1V8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9H1V8-F1 | Predicted | AlphaFoldDB |
522 variants for Q9H1V8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA997804 rs146348475 RCV001337078 |
10 | R>H | Variant assessed as Somatic; 0.0 impact. Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs775085213 VAR_073371 CA997928 RCV000167526 |
162 | G>R | Variant assessed as Somatic; 0.0 impact. Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome MRT48 [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA dbSNP gnomAD |
|
RCV002527288 rs147200498 RCV000503329 CA998003 |
275 | R>Q | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA341572980 RCV001333633 rs1188854712 CA341572982 |
284 | M>I | Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs143189177 RCV000503794 CA998246 COSM1332555 RCV001337075 |
575 | V>M | large_intestine Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs375380880 RCV000167527 VAR_073372 CA198506 |
633 | P>R | Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome MRT48 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC dbSNP |
|
CA998327 rs757150136 RCV001337076 |
653 | V>M | Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs796052160 RCV000190153 CA204109 |
674 | R>H | Variant assessed as Somatic; impact. Long QT syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs774756143 CA997801 |
2 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1466735779 CA341565317 |
2 | P>T | No |
ClinGen TOPMed |
|
|
CA997802 rs762265642 |
4 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs1005322002 CA28728937 |
8 | T>I | No |
ClinGen Ensembl |
|
|
rs767971116 CA997803 |
10 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA341565436 rs1252618204 |
11 | E>G | No |
ClinGen TOPMed |
|
|
rs1488006248 CA341565430 |
11 | E>K | No |
ClinGen TOPMed |
|
|
rs1230483624 CA341565451 |
13 | S>G | No |
ClinGen gnomAD |
|
|
rs1199447448 CA341565470 |
15 | E>G | No |
ClinGen TOPMed |
|
|
CA341565485 rs1339670265 |
17 | V>D | No |
ClinGen gnomAD |
|
|
CA341565482 rs1254840915 |
17 | V>I | No |
ClinGen gnomAD |
|
|
rs969250027 CA28728957 |
21 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA997806 rs766443472 |
22 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA997808 rs142828529 |
23 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1435382997 CA341565578 |
25 | L>M | No |
ClinGen gnomAD |
|
|
CA997809 rs764985121 |
26 | A>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 28 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM126279 rs142242142 CA997811 |
28 | E>K | upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1331627232 CA341565651 |
29 | E>G | No |
ClinGen TOPMed |
|
|
CA28728995 rs774483620 |
29 | E>K | No |
ClinGen TOPMed |
|
|
rs1170762862 CA341565701 |
31 | V>M | No |
ClinGen gnomAD |
|
|
CA997812 rs777798587 |
33 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA341565738 rs1428899059 |
33 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs374611845 CA997814 |
35 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746520004 CA341565816 |
35 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA997813 rs746520004 |
35 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs745555325 CA997816 |
38 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1340956360 CA341566044 |
42 | G>S | No |
ClinGen gnomAD |
|
|
rs773775848 CA997821 |
43 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs772574341 CA997820 |
43 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA341566104 rs1267236334 |
44 | A>G | No |
ClinGen gnomAD |
|
|
rs761158427 CA997822 |
44 | A>T | No |
ClinGen ExAC |
|
|
rs1449022753 CA341566147 |
46 | G>D | No |
ClinGen gnomAD |
|
|
CA997824 rs776745886 |
46 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA997827 rs752452451 |
48 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1292904621 CA341566207 |
49 | K>E | No |
ClinGen gnomAD |
|
|
CA997829 rs770557467 COSM3801220 |
50 | A>V | breast Variant assessed as Somatic; 4.783e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA28729065 rs916727283 |
51 | V>G | No |
ClinGen gnomAD |
|
| TCGA novel | 53 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA997831 rs757235092 |
54 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA997833 rs749909247 |
54 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs757235092 CA341566329 |
54 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA997832 rs780606691 |
54 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA997834 rs150800582 |
55 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1219798160 CA341566354 |
55 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA28729082 rs12737742 |
57 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs12737742 VAR_061814 CA997836 |
57 | A>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs35600013 CA28729074 |
57 | A>T | No |
ClinGen Ensembl |
|
|
CA997837 rs536570325 |
57 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs553613094 CA997838 |
58 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs747555317 CA997839 |
59 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1421884063 CA341566478 |
60 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1421884063 CA341566473 |
60 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1416185596 CA341566470 |
60 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA28729088 rs966064580 |
61 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs759605977 CA997842 |
62 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 63 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA997843 rs769915603 |
63 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs1452691267 CA341566586 |
67 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 68 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763251686 CA341566626 |
70 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341566631 rs1165775573 |
70 | I>T | No |
ClinGen gnomAD |
|
|
rs763251686 CA997845 |
70 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341566639 rs1226997546 |
71 | L>M | No |
ClinGen gnomAD |
|
|
rs764025312 CA997846 |
71 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1328626716 CA341566685 |
74 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA28729111 rs1036969564 |
74 | I>T | No |
ClinGen TOPMed |
|
|
CA997849 rs761873403 |
74 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1210874428 CA341566695 |
75 | G>A | No |
ClinGen gnomAD |
|
| TCGA novel | 76 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341566769 rs1252199706 |
81 | G>S | No |
ClinGen gnomAD |
|
|
rs1570984021 CA341566845 |
86 | F>V | No |
ClinGen Ensembl |
|
|
CA28729114 rs1049246665 |
88 | Y>H | No |
ClinGen Ensembl |
|
|
rs779418673 CA997853 |
93 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA997855 rs184331499 |
95 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA341568250 rs1379130039 |
96 | G>A | No |
ClinGen TOPMed |
|
|
rs757710335 CA997877 |
100 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA341568383 rs1451950736 |
102 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 102 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199640001 COSM1738465 CA341568495 |
107 | I>F | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs199640001 CA997880 |
107 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780308023 CA997881 |
108 | I>V | No |
ClinGen ExAC |
|
|
rs902526600 CA28732089 |
109 | I>T | No |
ClinGen TOPMed |
|
|
rs749331072 CA997882 |
109 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1447217919 CA341568683 |
110 | G>R | No |
ClinGen gnomAD |
|
|
CA28732092 rs751016862 |
111 | I>F | No |
ClinGen Ensembl |
|
|
rs1167116627 CA341568744 |
112 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 114 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748306005 CA997885 |
119 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs771953000 CA341568935 |
120 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA997886 rs771953000 |
120 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA997887 rs772852640 |
121 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341568985 rs1348598187 |
123 | R>M | No |
ClinGen gnomAD |
|
|
CA341569007 rs1570987583 |
124 | I>T | No |
ClinGen Ensembl |
|
|
CA997889 COSM1332549 rs375778106 |
125 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs776136026 CA997890 |
125 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1446781497 CA341569127 |
126 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs758981814 CA997891 COSM893623 |
126 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs752449076 CA997893 |
127 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA997896 rs750709758 |
130 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1570987614 CA341569248 |
131 | V>G | No |
ClinGen Ensembl |
|
|
rs1570987624 CA341569252 |
132 | W>G | No |
ClinGen Ensembl |
|
| TCGA novel | 133 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1249285509 CA341569261 |
133 | H>Y | No |
ClinGen gnomAD |
|
|
rs780649225 CA997898 |
134 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA997899 COSM674422 rs753970226 |
135 | I>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA997900 rs755173896 |
138 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs779115935 CA997901 |
138 | R>H | Variant assessed as Somatic; 0.0001546 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1325221192 CA341569315 |
140 | G>E | No |
ClinGen TOPMed |
|
|
rs1570987664 CA341569329 |
141 | G>A | No |
ClinGen Ensembl |
|
| TCGA novel | 141 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1432947537 CA341569321 |
141 | G>S | No |
ClinGen gnomAD |
|
|
CA997904 rs148377467 RCV000954583 |
142 | I>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA341569355 rs1282148720 |
143 | G>D | No |
ClinGen gnomAD |
|
|
rs986450206 CA28732210 |
143 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA341569357 rs1282148720 |
143 | G>V | No |
ClinGen gnomAD |
|
|
rs1334090420 CA341569369 |
144 | F>L | Variant assessed as Somatic; 5.776e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA997906 rs746727821 |
148 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA997925 rs780939058 |
149 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs1452148582 CA341569670 |
150 | C>S | No |
ClinGen gnomAD |
|
|
rs1557834487 CA341569679 |
150 | C>Y | No |
ClinGen Ensembl |
|
|
rs1570988927 CA341569702 |
151 | L>V | No |
ClinGen Ensembl |
|
|
rs1196900852 CA341569746 |
153 | V>M | No |
ClinGen TOPMed |
|
|
rs745842654 CA997926 |
155 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1390806380 CA341569859 |
158 | N>D | No |
ClinGen gnomAD |
|
|
rs750702931 CA28733564 |
161 | I>V | No |
ClinGen Ensembl |
|
|
rs1054854634 CA28733575 RCV000502165 |
163 | W>C | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs894653327 CA28733588 |
167 | Y>C | No |
ClinGen TOPMed |
|
| TCGA novel | 169 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341570078 rs1204654047 |
170 | K>R | No |
ClinGen TOPMed |
|
|
CA341570109 rs1342380926 |
172 | F>Y | No |
ClinGen gnomAD |
|
|
CA997929 rs762310437 |
173 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA997930 rs758094036 |
175 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA997932 rs761542562 |
179 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1191775920 CA341570280 |
180 | E>D | No |
ClinGen gnomAD |
|
|
CA997933 rs766891808 |
182 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341570327 rs766891808 |
182 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA997935 rs62000400 |
184 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA997936 rs62000400 |
184 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1388161447 CA341570444 |
188 | S>N | No |
ClinGen gnomAD |
|
|
CA997937 rs752829406 |
189 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1349107375 CA341570483 |
190 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1349107375 CA341570486 |
190 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA341571717 rs1315292329 |
191 | V>A | No |
ClinGen TOPMed |
|
|
rs1226939244 CA341571738 |
192 | V>A | No |
ClinGen TOPMed |
|
| TCGA novel | 193 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775924184 CA997954 |
194 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1570989495 CA341571805 |
196 | C>G | No |
ClinGen Ensembl |
|
|
CA28734114 rs994002772 |
197 | E>K | No |
ClinGen TOPMed |
|
|
rs1323865330 CA341571905 |
200 | S>L | No |
ClinGen gnomAD |
|
|
rs1298421543 CA341571926 |
201 | A>G | No |
ClinGen TOPMed |
|
|
CA997956 rs764116383 |
202 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs751594760 CA997957 |
203 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs757491378 CA997958 |
204 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
CA997959 rs767666097 |
205 | F>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA341572052 rs188000169 |
206 | W>* | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1485625478 CA341572043 |
206 | W>* | No |
ClinGen gnomAD |
|
|
rs188000169 CA28734130 |
206 | W>C | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA997960 rs750222964 |
208 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1258083298 CA341572068 |
208 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1035382942 CA28734135 |
213 | I>L | No |
ClinGen TOPMed |
|
|
CA341572163 rs1334980404 |
214 | S>P | No |
ClinGen gnomAD |
|
|
rs755927851 CA997961 |
218 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341572302 rs1458380973 |
219 | E>D | No |
ClinGen gnomAD |
|
|
rs1156264489 CA341572323 |
220 | S>G | No |
ClinGen gnomAD |
|
|
rs1344244004 CA341572326 |
220 | S>N | No |
ClinGen gnomAD |
|
|
CA341572340 rs1304220661 |
221 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA28734154 rs370200407 |
222 | G>D | No |
ClinGen ESP TOPMed |
|
|
CA997963 rs749231933 |
222 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA341572376 rs370200407 |
222 | G>V | No |
ClinGen ESP TOPMed |
|
|
CA997964 rs754905375 |
223 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA28734163 rs769368426 |
223 | L>R | No |
ClinGen Ensembl |
|
|
rs1392362352 CA341572427 |
224 | N>K | No |
ClinGen gnomAD |
|
| TCGA novel | 226 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1351595900 CA341572512 |
227 | M>I | No |
ClinGen gnomAD |
|
|
CA341572489 rs1293234279 |
227 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 228 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341572570 rs1306681861 |
231 | L>F | No |
ClinGen gnomAD |
|
|
rs79143268 CA997966 RCV000886099 |
233 | V>M | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 235 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771857280 CA997967 |
238 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772717899 CA997968 |
240 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341572686 rs772717899 |
240 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770108919 CA997971 |
243 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770108919 COSM174361 CA997970 |
243 | V>I | Variant assessed as Somatic; 0.0004624 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs770108919 CA341572705 |
243 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764608426 CA997973 |
249 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341572777 rs1394271653 |
252 | V>L | No |
ClinGen TOPMed |
|
|
rs1354418395 CA341572787 |
253 | M>I | No |
ClinGen gnomAD |
|
|
rs1557835400 CA341572797 |
254 | Y>* | No |
ClinGen Ensembl |
|
|
CA341572790 rs1437321841 |
254 | Y>N | No |
ClinGen gnomAD |
|
|
CA997996 rs760830094 |
261 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs753581585 CA341572847 |
262 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753581585 CA997998 |
262 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA28735270 rs144665119 |
263 | V>M | No |
ClinGen ESP |
|
|
CA998000 rs765114628 |
270 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA997999 rs759444518 |
270 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1281080841 CA341572902 |
271 | G>A | No |
ClinGen TOPMed |
|
|
rs1437319681 CA341572898 |
271 | G>R | No |
ClinGen TOPMed |
|
|
rs1452039880 CA341572922 |
275 | R>* | No |
ClinGen gnomAD |
|
|
rs868289292 CA28735297 |
277 | A>T | No |
ClinGen Ensembl |
|
|
rs576964392 CA28735298 |
278 | V>L | No |
ClinGen 1000Genomes |
|
|
CA341572976 rs756870076 |
284 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA998005 rs756870076 |
284 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs987824105 CA341572997 |
287 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
COSM140369 rs1166477723 CA341573001 |
287 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA28735307 rs987824105 |
287 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs745500023 CA998007 |
288 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA341576158 rs1354701046 |
292 | M>V | No |
ClinGen gnomAD |
|
|
CA998023 rs756856804 |
295 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA341576234 rs1347907695 |
296 | Q>H | No |
ClinGen gnomAD |
|
|
rs1250606450 CA341576230 |
296 | Q>L | No |
ClinGen gnomAD |
|
|
rs750138241 CA998025 |
299 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA998026 rs755732130 |
300 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1213416226 CA341576379 |
303 | T>I | No |
ClinGen gnomAD |
|
|
rs1571001255 CA341576389 |
304 | Q>P | No |
ClinGen Ensembl |
|
|
CA341576423 rs1571001258 |
305 | V>G | No |
ClinGen Ensembl |
|
|
rs1475131953 CA341576438 |
306 | F>S | No |
ClinGen gnomAD |
|
|
rs1256029106 CA341576427 |
306 | F>V | No |
ClinGen gnomAD |
|
|
rs1468637919 CA341576514 |
310 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 312 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748454589 CA998028 |
314 | G>D | No |
ClinGen ExAC |
|
|
CA998029 rs758912076 |
315 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1403124095 CA341576651 |
316 | V>A | No |
ClinGen gnomAD |
|
|
rs1415098081 CA341576637 |
316 | V>I | No |
ClinGen TOPMed |
|
|
rs1571001319 CA341576727 |
320 | S>P | No |
ClinGen Ensembl |
|
|
CA341576743 rs1310782229 |
321 | S>R | No |
ClinGen gnomAD |
|
|
CA998031 rs747459712 |
322 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA998033 COSM1288050 rs776544892 |
324 | K>N | Variant assessed as Somatic; 0.0 impact. autonomic_ganglia [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA998032 rs771094387 |
324 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs77394293 CA998035 |
328 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA28746108 rs1023791205 |
332 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs566308256 CA998039 |
334 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1196923299 CA341577063 |
334 | A>V | No |
ClinGen gnomAD |
|
|
rs755622380 CA998040 |
337 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341577190 rs1486958091 |
340 | N>S | No |
ClinGen TOPMed |
|
|
rs374522628 CA28746143 |
343 | T>M | No |
ClinGen ESP |
|
|
CA28746160 rs777199549 |
345 | V>L | No |
ClinGen Ensembl |
|
|
rs113308842 CA28746184 |
355 | L>P | No |
ClinGen Ensembl |
|
|
rs753486204 CA998045 |
359 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 359 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA998046 rs758822378 |
361 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA998047 rs777980219 |
362 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA341577779 rs1390317845 |
367 | V>L | No |
ClinGen gnomAD |
|
|
rs757668887 CA998049 |
368 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1421708392 CA341577798 |
368 | V>I | No |
ClinGen gnomAD |
|
|
CA341577830 rs1302196404 |
369 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
RCV000500281 rs149884117 CA998052 |
369 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA998053 rs149884117 |
369 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA28746543 rs776604261 |
376 | G>A | No |
ClinGen gnomAD |
|
|
rs776082700 CA998079 |
377 | Y>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA28746564 rs923301288 |
380 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1455079602 CA341578112 |
381 | N>D | No |
ClinGen gnomAD |
|
| TCGA novel | 382 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA998080 rs759258693 |
382 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA341578130 COSM3399532 rs759258693 |
382 | V>I | Variant assessed as Somatic; impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs762146988 CA998083 |
385 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA998082 rs751953049 |
385 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1231543095 CA341578198 |
386 | D>G | No |
ClinGen gnomAD |
|
|
CA341578211 rs1292809813 |
387 | L>F | No |
ClinGen gnomAD |
|
|
rs745846672 CA28746633 |
388 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 389 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1485433181 CA341578256 |
390 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA341578278 rs1209707679 |
391 | H>R | No |
ClinGen TOPMed |
|
|
rs1557840963 CA341578296 |
392 | V>A | No |
ClinGen Ensembl |
|
|
COSM3688867 CA998087 rs114452357 |
392 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA341578308 rs753918929 |
393 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753918929 CA998088 |
393 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 396 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1187126066 CA341578375 |
397 | L>V | No |
ClinGen gnomAD |
|
|
rs1408165213 CA341578396 |
398 | T>I | No |
ClinGen gnomAD |
|
|
CA28746659 rs141451584 |
399 | T>A | No |
ClinGen ESP |
|
|
rs1357452685 CA341578417 |
400 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 401 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA998089 rs755241572 |
401 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341578434 rs755241572 |
401 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748390463 CA998091 |
403 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA28746693 rs1046961196 |
403 | M>T | No |
ClinGen Ensembl |
|
|
CA998090 rs576364057 |
403 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs924234222 CA341578457 |
404 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA28746699 rs924234222 |
404 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1451396641 CA341578461 |
404 | E>V | No |
ClinGen TOPMed |
|
|
rs1363109352 CA341578470 |
405 | M>I | No |
ClinGen TOPMed |
|
|
rs1377639355 CA341578466 |
405 | M>L | No |
ClinGen gnomAD |
|
|
CA998092 rs771813263 |
406 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 408 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1312768662 CA341578488 |
408 | V>I | No |
ClinGen gnomAD |
|
|
CA341578494 rs1225487125 |
409 | I>F | No |
ClinGen gnomAD |
|
|
CA998094 rs746982472 |
410 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA341578506 rs1316492749 |
410 | M>R | No |
ClinGen gnomAD |
|
|
rs776135896 CA998096 COSM1332551 |
412 | V>M | liver large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA998097 rs745310783 |
415 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1233365521 CA341578580 |
415 | D>V | No |
ClinGen gnomAD |
|
|
rs775059389 CA998099 |
418 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA28746751 rs935455519 |
418 | S>P | No |
ClinGen TOPMed |
|
|
rs1406807610 CA341578650 |
419 | A>P | No |
ClinGen gnomAD |
|
|
rs1397311560 CA341578682 |
421 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA998101 rs768031174 |
421 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA341578699 rs1176000336 |
422 | L>P | No |
ClinGen gnomAD |
|
|
CA341578726 rs1444469952 |
424 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs766934783 CA998104 |
425 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA28746781 rs866575347 |
426 | L>F | No |
ClinGen gnomAD |
|
|
CA998106 rs755070893 |
430 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1246043318 CA341579118 |
434 | S>F | No |
ClinGen TOPMed |
|
|
CA998126 rs146431020 |
435 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA341579176 rs1454221241 |
438 | T>P | No |
ClinGen gnomAD |
|
|
rs544084723 CA28748175 |
443 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs534304175 CA28748188 |
444 | A>G | No |
ClinGen gnomAD |
|
|
CA998130 rs376852179 |
444 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1428325191 CA341579285 |
445 | F>V | No |
ClinGen gnomAD |
|
|
rs1277523904 CA341579323 |
448 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 449 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA998131 rs781022167 |
449 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA998132 COSM301141 rs201181747 |
450 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
COSM893629 CA998134 rs779455193 |
454 | A>T | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA998136 rs141398428 |
456 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141398428 CA998135 |
456 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1372415840 CA341579375 |
456 | P>T | No |
ClinGen TOPMed |
|
|
CA998140 rs145806724 |
460 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs983602980 CA28748311 |
461 | M>L | No |
ClinGen Ensembl |
|
|
rs1263111597 CA341579419 |
462 | F>S | No |
ClinGen gnomAD |
|
|
rs759980882 CA998141 |
468 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1388074084 CA341579472 |
470 | G>S | No |
ClinGen TOPMed |
|
|
CA341579856 rs1410388807 |
476 | G>E | No |
ClinGen gnomAD |
|
| TCGA novel | 476 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775258138 CA998144 |
483 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341579971 rs1416617182 |
484 | P>T | No |
ClinGen gnomAD |
|
|
rs1310962386 CA341580047 |
486 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA998146 rs751831915 |
487 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA998147 rs761994674 |
490 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA341580163 rs1280963053 |
491 | V>L | No |
ClinGen gnomAD |
|
|
CA341580206 rs1238450627 |
493 | K>E | No |
ClinGen gnomAD |
|
|
CA341580264 rs1285837692 |
495 | M>L | No |
ClinGen gnomAD |
|
|
rs1486183794 CA341580272 |
495 | M>T | No |
ClinGen gnomAD |
|
|
CA341580261 rs1285837692 |
495 | M>V | No |
ClinGen gnomAD |
|
|
CA341580291 rs756020156 |
496 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA998150 rs756020156 |
496 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341580337 rs1571003487 |
497 | T>I | No |
ClinGen Ensembl |
|
|
rs1272896886 CA341580317 |
497 | T>P | No |
ClinGen TOPMed |
|
|
CA341580652 rs1445583609 |
503 | F>L | No |
ClinGen gnomAD |
|
|
CA998186 rs772040551 |
503 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1164934275 CA341580713 |
507 | V>L | No |
ClinGen gnomAD |
|
|
rs1164934275 COSM423418 CA341580722 |
507 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 509 | L>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780329859 CA998189 |
512 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA998190 rs776517148 COSM164432 |
514 | R>C | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA998191 rs188284006 |
514 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1223114393 CA341580867 |
515 | S>F | No |
ClinGen gnomAD |
|
|
rs1169034207 CA341580875 |
516 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs750699378 CA998194 |
517 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs763486473 CA998195 |
519 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA998197 rs756823327 |
523 | F>C | No |
ClinGen ExAC |
|
|
rs749599677 CA998200 |
526 | Y>F | No |
ClinGen ExAC |
|
|
rs749599677 CA998199 |
526 | Y>S | No |
ClinGen ExAC |
|
|
CA998203 rs772243315 |
527 | S>* | No |
ClinGen ExAC |
|
|
CA341581141 rs748589986 |
527 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs748589986 CA998202 |
527 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA998205 rs747277219 |
528 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA998206 rs199993698 |
529 | T>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1248019163 CA341581265 |
535 | I>F | No |
ClinGen TOPMed |
|
|
rs776570411 CA998207 |
536 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA998212 rs781541921 |
542 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs750987598 CA998213 |
543 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 545 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1359014299 CA341581483 |
546 | I>N | No |
ClinGen gnomAD |
|
|
rs761543424 CA998214 |
547 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA28749242 rs267597917 |
547 | Y>D | No |
ClinGen Ensembl |
|
|
rs1214565599 CA341581550 |
549 | T>N | No |
ClinGen TOPMed |
|
|
rs369228913 CA28749249 |
551 | K>E | No |
ClinGen ESP gnomAD |
|
|
CA341581587 rs1357466164 |
551 | K>M | No |
ClinGen TOPMed gnomAD |
|
|
rs372370658 CA998233 |
553 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA28750324 rs1056465813 |
555 | E>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 556 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760289988 CA998234 |
556 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA998235 rs192726510 |
557 | T>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA998236 rs192726510 |
557 | T>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs374265669 CA998238 |
559 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341583048 rs1439473866 |
560 | L>V | No |
ClinGen gnomAD |
|
|
rs1427680960 CA341583063 |
561 | G>C | No |
ClinGen gnomAD |
|
|
rs1336792608 CA341583069 |
561 | G>V | No |
ClinGen TOPMed |
|
|
rs368410351 CA341583091 |
563 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA998241 rs781385140 COSM176606 |
563 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA998240 rs368410351 |
563 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746120778 CA998242 |
565 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1467204933 CA341583130 COSM1332554 |
566 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1329599332 CA341583192 |
570 | Y>C | No |
ClinGen gnomAD |
|
|
CA341583211 rs1441384066 |
571 | M>T | No |
ClinGen gnomAD |
|
|
CA341583204 rs1376350100 |
571 | M>V | No |
ClinGen gnomAD |
|
|
rs570372477 CA998243 |
574 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs143189177 CA341583289 |
575 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1471049381 CA341583330 |
578 | L>V | No |
ClinGen TOPMed |
|
|
rs768495410 CA998248 COSM1332556 |
579 | C>Y | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC |
|
CA28750383 rs201903834 |
580 | M>I | No |
ClinGen Ensembl |
|
|
CA341583363 rs1427481734 |
580 | M>L | No |
ClinGen TOPMed |
|
|
CA341583435 rs1571005567 |
584 | T>P | No |
ClinGen Ensembl |
|
|
rs1191145591 CA341583459 |
585 | T>I | No |
ClinGen gnomAD |
|
|
CA341583449 rs1571005574 |
585 | T>P | No |
ClinGen Ensembl |
|
|
CA998252 rs377378725 |
586 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA998253 rs771610727 |
586 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs145509840 CA998255 |
588 | I>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs765879472 CA341583558 |
590 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA341583573 rs570687081 |
592 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs570687081 CA998257 |
592 | G>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA341583608 rs201121834 |
594 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA998258 rs201121834 |
594 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752041932 CA998260 |
596 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1205411588 CA341583655 |
597 | G>D | No |
ClinGen TOPMed |
|
| TCGA novel | 599 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA998262 rs769736110 |
600 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA341583707 rs1237466366 |
600 | A>V | No |
ClinGen TOPMed |
|
|
rs201061830 CA998264 |
602 | I>M | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA28750469 rs970722231 |
603 | K>E | No |
ClinGen TOPMed |
|
|
CA341583943 rs1375918307 |
607 | A>T | No |
ClinGen gnomAD |
|
|
CA28750830 rs527503610 |
607 | A>V | No |
ClinGen gnomAD |
|
|
CA28750845 rs998440682 |
608 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs770384859 CA998293 |
609 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs776163001 CA998294 |
609 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1050833776 CA28750861 |
610 | Y>C | No |
ClinGen TOPMed |
|
|
CA341583993 rs1238383736 |
610 | Y>N | No |
ClinGen gnomAD |
|
|
rs1405447811 CA341584035 |
612 | Y>C | No |
ClinGen gnomAD |
|
|
rs769433720 CA998296 |
614 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1261047595 CA341584128 |
616 | W>R | No |
ClinGen TOPMed |
|
|
CA341584151 rs1346392057 |
617 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs772554900 CA998299 |
618 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs370432997 CA998298 |
618 | M>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1557843132 CA341584180 |
618 | M>L | No |
ClinGen Ensembl |
|
|
rs370432997 CA341584184 |
618 | M>T | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 620 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773906847 CA998300 |
620 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA341584246 rs1302699879 |
621 | L>V | No |
ClinGen gnomAD |
|
|
CA28750873 rs756634725 |
624 | L>F | No |
ClinGen Ensembl |
|
|
rs201626646 CA998303 |
626 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA998302 rs201626646 |
626 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA341584316 rs541534335 |
627 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs541534335 CA998305 |
627 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs752903151 CA998306 |
628 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1026333346 CA28750896 |
629 | T>A | No |
ClinGen Ensembl |
|
|
CA998308 rs189456665 |
629 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1332557 CA341584387 rs1445561135 |
631 | P>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA998310 rs757166323 |
631 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA998313 rs375380880 |
633 | P>L | No |
ClinGen ESP ExAC |
|
|
CA998312 rs745320211 |
633 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA998314 rs779914802 |
635 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA998316 rs201932342 COSM1226523 |
637 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs773673995 CA341584554 |
638 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341584588 rs1267846043 |
639 | R>Q | No |
ClinGen gnomAD |
|
|
rs1198247401 CA341584578 |
639 | R>W | No |
ClinGen gnomAD |
|
|
CA28750975 rs372087169 CA341584645 |
641 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA998321 rs533437109 |
642 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA341584863 rs1262706847 |
651 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs969455513 CA28751018 |
652 | S>P | No |
ClinGen TOPMed |
|
|
CA341584930 rs1322150478 |
654 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 654 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781259883 CA998328 |
654 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs750318748 CA998329 |
659 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1266013 rs368756338 CA998330 |
659 | R>H | oesophagus [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA341585031 rs750318748 |
659 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341585065 rs1266213882 |
660 | M>I | No |
ClinGen gnomAD |
|
|
CA998331 rs779679974 |
660 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs374649824 CA341585081 |
661 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA998332 rs374649824 |
661 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 662 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200671515 CA998334 |
666 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200671515 CA998335 |
666 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341585226 rs1195708925 |
667 | L>M | No |
ClinGen gnomAD |
|
|
CA341585317 rs1186482630 |
670 | N>I | No |
ClinGen gnomAD |
|
|
CA341585322 rs777243417 |
670 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA998338 COSM893634 rs746329258 |
671 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs895234152 CA28751088 |
674 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA341585503 rs1557843297 |
677 | L>V | No |
ClinGen Ensembl |
|
|
CA998340 rs41313405 RCV000430967 |
679 | K>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA998341 rs763172595 |
680 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs764231214 CA998342 |
681 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs764231214 CA341585604 |
681 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA28751107 rs902546169 |
682 | S>N | No |
ClinGen TOPMed |
|
|
CA341585687 rs1373778733 |
684 | A>S | No |
ClinGen TOPMed |
|
|
rs1338551353 CA341585728 |
685 | P>L | No |
ClinGen gnomAD |
|
|
rs141622274 CA998344 |
685 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA341585768 rs767197802 |
686 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1476981188 CA341585744 |
686 | S>T | No |
ClinGen TOPMed |
|
|
CA998345 rs767197802 |
686 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA998346 rs750416156 |
688 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA341585896 rs1264676584 |
691 | H>Q | No |
ClinGen gnomAD |
|
|
rs200065927 CA998347 |
692 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA998348 rs746035181 |
692 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs889659900 CA28751171 |
693 | S>F | No |
ClinGen gnomAD |
|
|
CA28751167 rs996029256 |
693 | S>T | No |
ClinGen TOPMed |
|
|
CA998349 rs753342740 |
694 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs778682488 CA998351 |
697 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs754529087 CA998350 |
697 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 698 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369787447 CA998353 |
698 | G>S | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 703 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341586140 rs1420641939 |
703 | L>V | No |
ClinGen gnomAD |
|
|
rs144843569 CA998355 |
706 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA998356 rs770224927 |
707 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373030789 CA998357 |
708 | N>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1381384513 CA341586242 |
709 | P>H | No |
ClinGen gnomAD |
|
|
CA998358 rs145575743 |
710 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA28751262 rs377322582 |
711 | G>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA998359 rs142470334 |
712 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs534966872 CA998360 |
712 | R>H | Variant assessed as Somatic; 4.631e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs534966872 CA341586288 |
712 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA341586301 rs1397249596 |
713 | Y>S | No |
ClinGen TOPMed |
|
|
rs1333465610 CA341586314 |
714 | G>R | No |
ClinGen TOPMed |
|
|
rs370642490 CA998362 |
716 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1481286782 CA341586361 |
716 | G>V | No |
ClinGen TOPMed |
|
|
CA998364 rs760704268 |
717 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA341586376 rs1481977203 |
717 | Y>C | No |
ClinGen gnomAD |
|
|
CA998363 rs772834476 |
717 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1238368312 CA341586392 |
718 | L>P | No |
ClinGen gnomAD |
|
|
rs1180841860 CA341586426 |
720 | A>V | No |
ClinGen gnomAD |
|
|
CA998367 rs539335942 |
725 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA341586530 rs1360987597 |
726 | E>* | No |
ClinGen gnomAD |
1 associated diseases with Q9H1V8
[MIM: 616269]: Intellectual developmental disorder, autosomal recessive 48 (MRT48)
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT48 patients show moderate to severe intellectual disability and additional features including progressive tremor, speech impairment, and sometimes behavioral problems. {ECO:0000269|PubMed:25704603}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT48 patients show moderate to severe intellectual disability and additional features including progressive tremor, speech impairment, and sometimes behavioral problems. {ECO:0000269|PubMed:25704603}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for Q9H1V8
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9H1V8 | |||
Functions
9 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 projection | A prolongation or process extending from a cell, e.g. a flagellum or axon. |
| GABA-ergic synapse | A synapse that uses GABA as a neurotransmitter. These synapses are typically inhibitory. |
| glutamatergic synapse | A synapse that uses glutamate as a neurotransmitter. |
| integral component of plasma membrane | The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| integral component of synaptic vesicle membrane | The component of the synaptic vesicle membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| intrinsic component of membrane | The component of a membrane consisting of the gene products having some covalently attached portion, for example part of a peptide sequence or some other covalently attached group such as a GPI anchor, which spans or is embedded in one or both leaflets of the membrane. |
| postsynapse | The part of a synapse that is part of the post-synaptic cell. |
| synaptic vesicle | A secretory organelle, typically 50 nm in diameter, of presynaptic nerve terminals; accumulates in high concentrations of neurotransmitters and secretes these into the synaptic cleft by fusion with the 'active zone' of the presynaptic plasma membrane. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| symporter activity | Enables the active transport of a solute across a membrane by a mechanism whereby two or more species are transported together in the same direction in a tightly coupled process not directly linked to a form of energy other than chemiosmotic energy. |
9 GO annotations of biological process
| Name | Definition |
|---|---|
| alanine transport | The directed movement of alanine, 2-aminopropanoic acid, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| brain development | The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. Brain development begins with patterning events in the neural tube and ends with the mature structure that is the center of thought and emotion. The brain is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.). |
| glycine transport | The directed movement of glycine, aminoethanoic acid, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| leucine transport | The directed movement of leucine, 2-amino-4-methylpentanoic acid, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| neurotransmitter transport | The directed movement of a neurotransmitter into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Neurotransmitters are any chemical substance that is capable of transmitting (or inhibiting the transmission of) a nerve impulse from a neuron to another cell. |
| neutral amino acid transport | The directed movement of neutral amino acids, amino acids with no net charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| proline transport | The directed movement of proline, pyrrolidine-2-carboxylic acid, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| sodium ion transmembrane transport | A process in which a sodium ion is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. |
| transport across blood-brain barrier | The directed movement of substances (e.g. macromolecules, small molecules, ions) through the blood-brain barrier. |
20 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P51143 | SLC6A2 | Sodium-dependent noradrenaline transporter | Bos taurus (Bovine) | PR |
| Q9XS59 | SLC6A15 | Sodium-dependent neutral amino acid transporter B(0)AT2 | Bos taurus (Bovine) | PR |
| P30531 | SLC6A1 | Sodium- and chloride-dependent GABA transporter 1 | Homo sapiens (Human) | PR |
| Q9Y345 | SLC6A5 | Sodium- and chloride-dependent glycine transporter 2 | Homo sapiens (Human) | PR |
| Q9UN76 | SLC6A14 | Sodium- and chloride-dependent neutral and basic amino acid transporter B(0+) | Homo sapiens (Human) | PR |
| P48029 | SLC6A8 | Sodium- and chloride-dependent creatine transporter 1 | Homo sapiens (Human) | PR |
| Q9NSD5 | SLC6A13 | Sodium- and chloride-dependent GABA transporter 2 | Homo sapiens (Human) | PR |
| P48066 | SLC6A11 | Sodium- and chloride-dependent GABA transporter 3 | Homo sapiens (Human) | PR |
| P31641 | SLC6A6 | Sodium- and chloride-dependent taurine transporter | Homo sapiens (Human) | PR |
| Q9H2J7 | SLC6A15 | Sodium-dependent neutral amino acid transporter B(0)AT2 | Homo sapiens (Human) | PR |
| Q9GZN6 | SLC6A16 | Orphan sodium- and chloride-dependent neurotransmitter transporter NTT5 | Homo sapiens (Human) | PR |
| P23975 | SLC6A2 | Sodium-dependent noradrenaline transporter | Homo sapiens (Human) | PR |
| Q9D687 | Slc6a19 | Sodium-dependent neutral amino acid transporter B(0)AT1 | Mus musculus (Mouse) | PR |
| O88576 | Slc6a18 | Sodium-dependent neutral amino acid transporter B(0)AT3 | Mus musculus (Mouse) | PR |
| O88575 | Slc6a20b | Sodium- and chloride-dependent transporter XTRP3B | Mus musculus (Mouse) | PR |
| O55192 | Slc6a2 | Sodium-dependent noradrenaline transporter | Mus musculus (Mouse) | PR |
| Q8BJI1 | Slc6a17 | Sodium-dependent neutral amino acid transporter SLC6A17 | Mus musculus (Mouse) | PR |
| Q64093 | Slc6a20 | Sodium- and chloride-dependent transporter XTRP3 | Rattus norvegicus (Rat) | PR |
| Q62687 | Slc6a18 | Sodium-dependent neutral amino acid transporter B(0)AT3 | Rattus norvegicus (Rat) | PR |
| P31662 | Slc6a17 | Sodium-dependent neutral amino acid transporter SLC6A17 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPKNSKVTQR | EHSSEHVTES | VADLLALEEP | VDYKQSVLNV | AGEAGGKQKA | VEEELDAEDR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PAWNSKLQYI | LAQIGFSVGL | GNIWRFPYLC | QKNGGGAYLV | PYLVLLIIIG | IPLFFLELAV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GQRIRRGSIG | VWHYICPRLG | GIGFSSCIVC | LFVGLYYNVI | IGWSIFYFFK | SFQYPLPWSE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| CPVVRNGSVA | VVEAECEKSS | ATTYFWYREA | LDISDSISES | GGLNWKMTLC | LLVAWSIVGM |
| 250 | 260 | 270 | 280 | 290 | 300 |
| AVVKGIQSSG | KVMYFSSLFP | YVVLACFLVR | GLLLRGAVDG | ILHMFTPKLD | KMLDPQVWRE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| AATQVFFALG | LGFGGVIAFS | SYNKQDNNCH | FDAALVSFIN | FFTSVLATLV | VFAVLGFKAN |
| 370 | 380 | 390 | 400 | 410 | 420 |
| IMNEKCVVEN | AEKILGYLNT | NVLSRDLIPP | HVNFSHLTTK | DYMEMYNVIM | TVKEDQFSAL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| GLDPCLLEDE | LDKSVQGTGL | AFIAFTEAMT | HFPASPFWSV | MFFLMLINLG | LGSMIGTMAG |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ITTPIIDTFK | VPKEMFTVGC | CVFAFLVGLL | FVQRSGNYFV | TMFDDYSATL | PLTLIVILEN |
| 550 | 560 | 570 | 580 | 590 | 600 |
| IAVAWIYGTK | KFMQELTEML | GFRPYRFYFY | MWKFVSPLCM | AVLTTASIIQ | LGVTPPGYSA |
| 610 | 620 | 630 | 640 | 650 | 660 |
| WIKEEAAERY | LYFPNWAMAL | LITLIVVATL | PIPVVFVLRH | FHLLSDGSNT | LSVSYKKGRM |
| 670 | 680 | 690 | 700 | 710 | 720 |
| MKDISNLEEN | DETRFILSKV | PSEAPSPMPT | HRSYLGPGST | SPLETSGNPN | GRYGSGYLLA |
| STPESEL |