Q14435
PR
Gene name |
GALNT3 |
Protein name |
Polypeptide N-acetylgalactosaminyltransferase 3 |
Names |
Polypeptide GalNAc transferase 3, GalNAc-T3, pp-GaNTase 3, Protein-UDP acetylgalactosaminyltransferase 3, UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2591 |
EC number |
2.4.1.41: Hexosyltransferases |
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 Q14435
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q14435-F1 | Predicted | AlphaFoldDB |
520 variants for Q14435
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA1941283 RCV002499689 RCV001345464 rs756068998 |
49 | E>D | Tumoral calcinosis, hyperphosphatemic, familial, 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA1941259 RCV001133693 RCV001221670 rs143136193 |
98 | L>W | Tumoral calcinosis, hyperphosphatemic, familial, 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs371697905 RCV001133692 CA1941255 |
113 | R>C | Tumoral calcinosis, hyperphosphatemic, familial, 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA1941243 RCV001133691 RCV001509937 rs114745771 |
136 | E>G | Tumoral calcinosis, hyperphosphatemic, familial, 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000807812 RCV000008235 CA119079 rs137853086 |
162 | R>* | Tumoral calcinosis, hyperphosphatemic, familial, 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
| VAR_080832 | 162 | R>del | HFTC1 [UniProt] | Yes | UniProt |
|
rs147779149 CA1941230 RCV000272316 RCV001850779 |
165 | G>R | Tumoral calcinosis, hyperphosphatemic, familial, 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA1941227 rs775341386 RCV001225042 RCV000679991 |
169 | R>* | Tumoral calcinosis, hyperphosphatemic, familial, 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000008245 rs786205250 |
226 | A>missing | Tumoral calcinosis, hyperphosphatemic, familial, 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA1941139 RCV002521310 rs146978168 CA1941140 RCV000304335 |
240 | V>L | Tumoral calcinosis, hyperphosphatemic, familial, 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs111875321 RCV001200048 CA1941127 |
261 | R>Q | Tumoral calcinosis, hyperphosphatemic, familial, 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA1941124 RCV001520225 RCV001130736 rs114933655 |
267 | V>F | Tumoral calcinosis, hyperphosphatemic, familial, 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs766750282 RCV000008243 |
269 | T>missing | Tumoral calcinosis, hyperphosphatemic, familial, 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137853090 RCV000008242 CA119089 |
272 | T>K | Tumoral calcinosis, hyperphosphatemic, familial, 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000391156 RCV001859968 CA1941069 rs539221514 |
284 | Y>C | Tumoral calcinosis, hyperphosphatemic, familial, 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002272298 rs762936774 RCV000597952 |
298 | Y>missing | Tumoral calcinosis, hyperphosphatemic, familial, 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001130734 rs143647583 RCV000974933 CA1941058 |
301 | V>I | Tumoral calcinosis, hyperphosphatemic, familial, 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA119085 RCV000008240 rs137853088 |
322 | Y>* | Tumoral calcinosis, hyperphosphatemic, familial, 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs137853091 CA119083 RCV000008239 |
359 | T>K | Tumoral calcinosis, hyperphosphatemic, familial, 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA1940979 rs146096050 RCV000733929 RCV002477729 |
450 | I>V | Tumoral calcinosis, hyperphosphatemic, familial, 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001130026 CA59747282 rs377389049 |
457 | D>N | Tumoral calcinosis, hyperphosphatemic, familial, 1 [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
CA119087 rs137853089 COSM1482127 RCV000008241 |
481 | Q>* | Variant assessed as Somatic; impact. Tumoral calcinosis, hyperphosphatemic, familial, 1 breast [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
CA10612439 RCV000334831 rs886055014 |
484 | N>T | Tumoral calcinosis, hyperphosphatemic, familial, 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA1940912 RCV001130025 rs780631238 |
522 | E>G | Tumoral calcinosis, hyperphosphatemic, familial, 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs377579661 RCV001130023 CA1940873 |
564 | A>V | Tumoral calcinosis, hyperphosphatemic, familial, 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000964167 CA1940868 rs146521644 RCV001130022 |
569 | V>I | Tumoral calcinosis, hyperphosphatemic, familial, 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs267606841 RCV000008246 CA119091 |
574 | C>G | Tumoral calcinosis, hyperphosphatemic, familial, 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001130021 rs1688323295 |
575 | T>I | Tumoral calcinosis, hyperphosphatemic, familial, 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000008238 CA119081 rs137853087 |
592 | Q>* | Tumoral calcinosis, hyperphosphatemic, familial, 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
| TCGA novel | 4 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1941310 rs376963628 |
6 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1941309 rs544219924 |
6 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs776775208 CA1941307 |
7 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA349044878 rs1381243875 |
9 | K>R | No |
ClinGen gnomAD |
|
|
rs1272046691 CA349044872 |
10 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs747049941 CA1941305 |
12 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349044857 rs1429426628 |
12 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs775598147 CA1941304 |
15 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA349044815 rs149612790 |
17 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1369508608 CA349044818 |
17 | H>R | No |
ClinGen TOPMed |
|
|
rs777577095 CA1941301 |
19 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1164655758 CA349044801 |
19 | K>R | No |
ClinGen gnomAD |
|
|
CA349044732 rs1182884894 |
24 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 27 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349044576 rs754721015 |
27 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA1941297 rs754721015 |
27 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA1941296 rs751088806 |
28 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs765969662 CA59754745 |
29 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 29 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765969662 CA1941295 |
29 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1941294 rs181288197 |
30 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1213877892 CA349044523 |
30 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA349044502 rs1299150326 |
32 | I>T | No |
ClinGen gnomAD |
|
|
rs750872521 CA1941293 |
32 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA1941291 rs762115920 |
35 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs754230823 CA1941290 |
38 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs150417505 CA1941289 |
39 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs775429771 CA1941287 |
40 | E>G | No |
ClinGen ExAC |
|
| TCGA novel | 40 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1941286 rs772122826 |
42 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1941285 rs759549269 |
43 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs149809222 CA349044348 |
44 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA59754725 rs904170049 |
48 | E>A | No |
ClinGen TOPMed |
|
|
rs752663525 CA1941282 |
50 | S>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 51 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA59754700 rs1001601934 |
51 | R>S | No |
ClinGen Ensembl |
|
|
CA59754695 rs905016451 |
52 | M>T | No |
ClinGen Ensembl |
|
|
CA1941281 rs768407065 |
52 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349044232 rs1489357988 |
54 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs140452696 CA1941280 CA59754693 |
55 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1435975151 CA349044216 |
56 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs779573886 CA1941279 |
56 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349044205 rs1228515319 |
58 | N>Y | No |
ClinGen gnomAD |
|
|
rs757863598 CA1941278 |
59 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA59754688 rs1040816682 |
61 | K>N | No |
ClinGen TOPMed |
|
|
rs1300848253 CA349044178 |
61 | K>R | No |
ClinGen gnomAD |
|
|
CA1941276 rs779436290 |
62 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA1941277 rs779436290 |
62 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1325370529 CA349044156 |
64 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA1941274 rs372745199 |
64 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1369228648 CA349044139 |
66 | M>I | No |
ClinGen gnomAD |
|
|
rs1442207768 CA349044147 |
66 | M>L | No |
ClinGen gnomAD |
|
|
CA349044137 rs1310325052 |
67 | L>V | No |
ClinGen gnomAD |
|
|
rs764511243 CA1941273 |
68 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA1941271 rs200433365 |
70 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1941270 rs767659388 |
72 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349044099 rs1425657073 |
73 | I>V | No |
ClinGen gnomAD |
|
|
rs1271397588 CA349044081 |
75 | D>G | No |
ClinGen TOPMed |
|
|
rs112139686 CA59754659 |
76 | A>V | No |
ClinGen Ensembl |
|
|
rs774336860 CA1941267 |
77 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA1941268 rs759624635 |
77 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA349044065 rs1205739462 |
78 | P>T | No |
ClinGen gnomAD |
|
|
rs200044494 CA1941265 |
80 | M>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 82 | I>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001314087 rs1688730742 |
82 | I>V | No |
ClinVar dbSNP |
|
|
CA349044014 rs1205169689 |
85 | P>T | No |
ClinGen TOPMed |
|
|
rs374042912 CA349043996 |
88 | Q>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1941263 rs374042912 |
88 | Q>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA349043977 rs367589956 |
90 | I>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA59754625 rs367589956 |
90 | I>T | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 92 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376146715 CA1941261 |
93 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 94 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349043952 rs1574008556 |
94 | E>G | No |
ClinGen Ensembl |
|
|
rs779706950 CA1941260 |
96 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs779706950 CA349043939 |
96 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs931745549 CA59754603 |
96 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA349043925 rs1452251475 |
98 | L>F | No |
ClinGen gnomAD |
|
|
CA349043921 rs1421054352 |
99 | Q>E | No |
ClinGen TOPMed |
|
|
RCV001316762 rs745349888 CA1941258 |
102 | Y>C | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA349043898 rs745349888 |
102 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778442174 CA1941257 |
104 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA59754589 rs976250315 |
105 | A>V | No |
ClinGen gnomAD |
|
|
CA349043835 rs1198654754 |
112 | D>Y | No |
ClinGen gnomAD |
|
|
CA1941254 rs200762567 |
113 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1413842753 CA349043820 |
114 | P>L | No |
ClinGen gnomAD |
|
|
CA1941253 rs756423427 |
118 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349043788 rs1315232000 |
119 | N>S | No |
ClinGen TOPMed |
|
|
CA59754551 rs767752966 |
120 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1941251 rs767752966 |
120 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA59754520 rs374241607 |
122 | G>D | No |
ClinGen ESP TOPMed |
|
|
CA349043767 rs1483254715 |
123 | A>S | No |
ClinGen gnomAD |
|
|
CA349043769 rs1483254715 |
123 | A>T | No |
ClinGen gnomAD |
|
|
CA349043761 rs1213159848 |
124 | S>F | No |
ClinGen gnomAD |
|
|
CA1941250 rs755207746 |
124 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs200595607 CA59754511 |
125 | G>S | No |
ClinGen Ensembl |
|
|
CA1941249 rs139145525 |
127 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs139145525 CA59754507 |
127 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA349043735 rs1270386765 |
128 | F>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 129 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766629550 CA1941248 |
131 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA349043717 rs1195193477 |
131 | T>P | No |
ClinGen gnomAD |
|
|
CA349043705 rs763127846 |
133 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA1941247 rs763127846 |
133 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 134 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs557937216 CA1941246 |
134 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs760478369 CA1941244 |
135 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1941245 rs764145935 |
135 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA59754473 rs756804696 |
136 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA349043679 rs1032997436 |
137 | E>A | No |
ClinGen TOPMed |
|
|
rs1032997436 CA59754468 |
137 | E>G | No |
ClinGen TOPMed |
|
|
CA349043671 rs1390615563 |
138 | Q>R | No |
ClinGen gnomAD |
|
|
rs534088143 CA59754459 |
139 | K>T | No |
ClinGen Ensembl |
|
|
rs1166744865 CA349043634 |
143 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA1941239 rs770369946 |
143 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs748820269 CA1941238 |
146 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748820269 CA349043613 |
146 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349043601 rs1186332378 |
148 | H>P | No |
ClinGen gnomAD |
|
|
rs778217078 CA1941237 |
151 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA349043558 rs1442947447 |
152 | A>D | No |
ClinGen gnomAD |
|
|
rs368590625 CA1941235 |
154 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368590625 CA349043534 |
154 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368590625 CA1941234 |
154 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA59754410 rs370325883 |
161 | H>L | No |
ClinGen ESP |
|
|
RCV001311938 CA1941232 rs766717305 |
162 | R>Q | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs758500603 CA1941231 |
163 | D>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA349043405 rs1433255815 |
164 | L>P | No |
ClinGen gnomAD |
|
|
rs147779149 CA349043397 |
165 | G>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1321404956 CA349043381 |
166 | P>R | No |
ClinGen gnomAD |
|
| TCGA novel | 166 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1941229 rs764092487 |
168 | T>A | No |
ClinGen ExAC gnomAD |
|
|
COSM1400734 rs377319905 CA1941226 |
169 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs773945483 CA1941224 |
170 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349043329 rs1390418091 |
171 | P>S | No |
ClinGen gnomAD |
|
|
CA349043314 rs1451417846 |
172 | E>A | No |
ClinGen gnomAD |
|
|
CA1941197 rs776952080 |
173 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs930546061 CA59752126 |
174 | I>T | No |
ClinGen TOPMed |
|
|
CA349042170 rs1412913584 |
176 | Q>H | No |
ClinGen TOPMed |
|
|
rs547467910 CA1941196 |
178 | F>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs377392356 CA1941195 |
180 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772410242 CA1941194 |
180 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1941193 COSM3709008 rs772410242 |
180 | R>L | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs897864996 CA59752084 |
181 | C>S | No |
ClinGen Ensembl |
|
|
rs1476231926 CA349042139 |
181 | C>Y | No |
ClinGen Ensembl |
|
|
rs1412457629 CA349042131 |
182 | P>R | No |
ClinGen gnomAD |
|
|
CA1941192 rs148553477 |
182 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1941191 rs779210602 |
183 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs373080566 CA1941188 |
187 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA349042105 rs373080566 |
187 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA349042086 rs1180713079 |
189 | V>A | No |
ClinGen gnomAD |
|
|
rs1473841595 CA349042076 |
190 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1273962730 CA349042025 |
191 | I>T | No |
ClinGen TOPMed |
|
|
CA349042008 rs1252717801 |
192 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA349041986 rs1186916886 |
193 | F>V | No |
ClinGen gnomAD |
|
|
CA1941187 rs754960200 |
194 | H>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 194 | H>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3783347 CA1941186 rs201078015 |
197 | A>V | ovary Variant assessed as Somatic; 0.0 impact. prostate [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1433198398 CA349041843 |
198 | W>* | No |
ClinGen gnomAD |
|
|
rs145021953 CA59752008 |
198 | W>C | No |
ClinGen ESP TOPMed |
|
|
rs1487696787 CA349041858 |
198 | W>R | No |
ClinGen TOPMed |
|
|
CA349041804 rs1260330068 |
200 | T>A | No |
ClinGen TOPMed |
|
|
CA1941185 rs138645426 COSM1400733 |
200 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs764960531 CA1941183 |
201 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs756998144 CA59751952 |
203 | R>K | No |
ClinGen TOPMed |
|
|
CA349041711 rs761186167 |
204 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA1941182 rs761186167 |
204 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs769019531 CA349041651 |
207 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769019531 CA1941180 |
207 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349041588 rs1160723693 |
210 | Y>C | No |
ClinGen TOPMed |
|
|
rs868454784 CA59751928 |
214 | A>T | No |
ClinGen Ensembl |
|
|
rs761321344 CA1941178 |
214 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349041482 rs772497664 |
215 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs775992459 CA1941177 |
215 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs889211137 CA59751896 |
216 | L>M | No |
ClinGen TOPMed |
|
|
CA349041418 rs1574003756 |
218 | K>R | No |
ClinGen Ensembl |
|
|
CA349041392 rs1157394667 |
220 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
CA1941175 rs746258280 |
221 | I>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 222 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349041364 rs1402138285 |
222 | L>W | No |
ClinGen gnomAD |
|
|
CA349041339 rs1163117371 |
224 | D>G | No |
ClinGen gnomAD |
|
|
CA349041281 RCV000722768 rs1558999126 |
227 | S>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA1941170 rs746885023 |
229 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1941172 rs4641949 |
229 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777969080 CA1941171 |
229 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs4641949 CA59751868 |
229 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1941146 rs758369237 |
230 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1210367641 CA349041251 |
230 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 231 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376216552 CA1941144 |
231 | Y>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1941145 rs745624780 |
231 | Y>H | No |
ClinGen ExAC |
|
|
rs756853934 CA1941143 |
233 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 233 | H>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756853934 CA59750333 |
233 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1224308892 CA349040456 |
233 | H>Y | No |
ClinGen TOPMed |
|
|
rs1352133982 CA349040332 |
238 | E>* | No |
ClinGen gnomAD |
|
|
CA349040298 rs1326882498 |
239 | Y>S | No |
ClinGen TOPMed |
|
|
CA59750313 rs146978168 |
240 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768116867 CA1941138 |
241 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349040272 rs768116867 |
241 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1450295598 CA349040251 |
242 | Q>R | No |
ClinGen gnomAD |
|
|
CA1941135 rs763244354 |
245 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA1941136 rs766704216 |
245 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs568101004 CA245252 RCV000178216 |
245 | I>V | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
CA349040166 rs1558997901 |
247 | K>T | No |
ClinGen Ensembl |
|
|
rs773370796 CA1941134 |
248 | I>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 248 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349039945 rs748192875 |
256 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748192875 CA1941130 |
256 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748192875 CA349039946 |
256 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs45498901 CA1941129 |
258 | I>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1217836655 CA349039854 |
261 | R>G | No |
ClinGen gnomAD |
|
|
rs895901555 CA59750192 |
262 | L>F | No |
ClinGen Ensembl |
|
|
rs1348755808 CA349039737 |
265 | A>E | No |
ClinGen gnomAD |
|
|
CA1941125 rs373564887 |
265 | A>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs373564887 CA1941126 |
265 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1941123 rs777537188 |
267 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs752243721 CA1941121 COSM1400730 |
268 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA59750149 rs796126875 |
269 | T>A | No |
ClinGen TOPMed |
|
|
CA1941120 rs780918934 |
269 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA1941119 rs137853090 |
272 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs750823109 CA1941116 |
275 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA349039495 rs1482605708 |
276 | L>F | No |
ClinGen gnomAD |
|
|
CA1941115 rs139397826 |
277 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762078188 CA1941114 |
278 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 279 | H>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1941070 rs765300815 |
281 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs967600640 CA59748720 |
282 | C>Y | No |
ClinGen Ensembl |
|
|
rs1423164060 CA349037636 |
286 | W>* | No |
ClinGen TOPMed |
|
|
CA1941068 rs776335857 |
289 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA59748719 rs201022045 |
289 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA349037568 rs1397630607 |
290 | L>V | No |
ClinGen TOPMed |
|
|
rs768338193 CA1941067 |
292 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1941066 rs746703561 |
293 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA349037520 rs1327096380 |
293 | R>K | No |
ClinGen TOPMed |
|
|
CA349037503 rs1342345562 |
294 | I>M | No |
ClinGen TOPMed |
|
|
rs775210194 CA1941065 |
296 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs771510644 CA1941064 |
298 | Y>C | No |
ClinGen ExAC TOPMed |
|
|
CA1941062 rs150889917 |
299 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1941063 rs745403924 |
299 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1941059 rs778066719 |
300 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs752806466 CA1941057 |
301 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1941053 rs765239589 |
302 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA1941054 rs765239589 CA1941055 |
302 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA349037421 rs1224121220 |
305 | D>G | No |
ClinGen gnomAD |
|
|
CA59748651 rs1002531653 |
305 | D>Y | No |
ClinGen gnomAD |
|
|
rs761896014 CA1941052 |
306 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1461397202 CA349037416 |
306 | I>V | No |
ClinGen TOPMed |
|
|
rs763726940 CA1941050 |
307 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs763726940 CA349037410 COSM1008678 |
307 | A>T | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1195935950 CA349037395 |
309 | I>M | No |
ClinGen TOPMed |
|
|
rs1443379561 CA349037398 |
309 | I>T | No |
ClinGen TOPMed |
|
|
rs149544089 CA1941048 |
309 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs771743247 CA1941047 |
310 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1573999653 CA349037394 RCV000792338 |
310 | D>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA1941046 rs371852814 |
311 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1297388378 CA349037368 |
314 | F>I | No |
ClinGen gnomAD |
|
|
rs570227411 CA59748612 |
315 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA349037350 rs1408505175 |
316 | F>S | No |
ClinGen TOPMed |
|
|
rs1372638337 CA349037328 |
319 | P>S | No |
ClinGen gnomAD |
|
|
rs1157538694 CA349037294 |
324 | S>I | No |
ClinGen gnomAD |
|
|
CA1941043 rs564645773 |
325 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs778359401 CA1941042 |
326 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA1941041 rs138728996 |
328 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1941040 rs748580763 |
328 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA349037263 rs1204063782 |
329 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs781538139 CA1941039 |
330 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs916277345 CA59748599 |
330 | N>Y | No |
ClinGen TOPMed |
|
|
rs755092673 CA1941038 |
332 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1242226743 CA349037186 |
340 | E>K | No |
ClinGen gnomAD |
|
|
rs753658189 CA349037175 |
341 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs753658189 CA1941034 |
341 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1025797620 CA59748563 |
343 | P>L | No |
ClinGen Ensembl |
|
|
CA349037166 rs760348563 |
343 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA1941032 rs760348563 |
343 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA349037155 rs1460449580 |
345 | H>N | No |
ClinGen gnomAD |
|
|
CA349037149 rs1319196597 |
345 | H>Q | No |
ClinGen gnomAD |
|
|
CA1941031 rs752577831 |
346 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 350 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA59748544 rs993908119 |
351 | K>E | No |
ClinGen TOPMed |
|
|
CA59748529 rs978002841 |
352 | D>E | No |
ClinGen TOPMed |
|
|
CA59748533 rs898253028 |
352 | D>G | No |
ClinGen TOPMed |
|
|
CA349037079 rs1162726410 |
355 | Y>C | No |
ClinGen gnomAD |
|
|
CA349037066 rs1471819129 |
357 | I>N | No |
ClinGen gnomAD |
|
| TCGA novel | 357 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs377053222 CA59748285 |
360 | P>L | No |
ClinGen ESP TOPMed |
|
|
CA59748267 rs937145717 |
361 | T>S | No |
ClinGen Ensembl |
|
|
rs1246089410 CA349037014 |
363 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs780440401 CA1941017 |
366 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs758363697 CA1941016 |
369 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA349036943 rs1415514332 |
370 | S>* | No |
ClinGen Ensembl |
|
|
CA59748260 rs867358653 |
370 | S>P | No |
ClinGen Ensembl |
|
|
rs200518001 CA1941014 |
371 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA59748257 rs964516933 |
374 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA349036856 rs1573999100 |
375 | E>K | No |
ClinGen Ensembl |
|
|
rs756126234 CA1941013 |
376 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs752484366 CA1941012 |
381 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 385 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349036633 rs1274825707 |
386 | I>V | No |
ClinGen gnomAD |
|
|
CA349036586 rs1403604010 |
388 | G>E | No |
ClinGen gnomAD |
|
|
rs1347538775 CA349036507 |
392 | I>T | No |
ClinGen gnomAD |
|
|
CA1941011 rs767232601 |
394 | M>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 395 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1409219297 CA349036415 |
396 | F>L | No |
ClinGen gnomAD |
|
|
CA59748236 rs949959250 |
397 | R>K | No |
ClinGen Ensembl |
|
|
CA349035423 rs1158283152 |
398 | V>I | No |
ClinGen gnomAD |
|
|
rs1158283152 CA349035421 |
398 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 399 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1409490830 CA349035377 |
401 | C>R | No |
ClinGen gnomAD |
|
|
rs1177492786 CA349035374 |
401 | C>Y | No |
ClinGen gnomAD |
|
|
CA349035348 rs1558995691 RCV001321476 |
403 | G>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs757287453 CA1940995 |
403 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA349035338 rs1235323676 |
404 | Q>* | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 406 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757320645 CA1940993 |
407 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA349035284 rs1308593739 |
408 | M>L | No |
ClinGen gnomAD |
|
|
rs1426793200 CA349035261 |
409 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 410 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA59747432 rs143799357 |
413 | V>I | No |
ClinGen ESP |
|
|
rs751393704 CA1940991 |
415 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA349035183 rs1315244629 |
416 | V>I | No |
ClinGen gnomAD |
|
|
rs530681634 CA1940990 |
418 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1940989 rs143396063 |
418 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs143396063 CA59747429 |
418 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 420 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 421 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1239325326 CA349035118 |
421 | S>G | No |
ClinGen TOPMed |
|
|
rs764741963 CA1940987 |
422 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA59747404 rs953115493 |
423 | H>Y | No |
ClinGen TOPMed |
|
|
rs1454406786 CA349035044 |
426 | P>L | No |
ClinGen gnomAD |
|
|
CA349035050 rs1210073487 |
426 | P>S | No |
ClinGen TOPMed |
|
|
CA349035030 rs1406511653 |
427 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 431 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1573998067 CA349034856 |
434 | R>G | No |
ClinGen Ensembl |
|
|
CA1940985 rs777232394 |
434 | R>K | No |
ClinGen ExAC gnomAD |
|
|
COSM228008 CA1940984 rs764730691 |
438 | R>C | endometrium skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1159208891 CA349034762 |
438 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA349034766 rs1159208891 |
438 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs199930810 CA59747365 |
440 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761090844 CA1940983 |
440 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs199930810 CA1940982 |
440 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA59747342 rs777464821 |
441 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA349034596 rs1244100020 |
444 | M>I | No |
ClinGen gnomAD |
|
|
rs772171197 CA1940981 |
445 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1208726688 CA349034590 |
445 | D>N | No |
ClinGen gnomAD |
|
|
rs1262954202 CA349034547 |
446 | E>D | No |
ClinGen gnomAD |
|
|
CA1940980 rs746035517 |
447 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1041076405 CA349034513 |
448 | K>* | No |
ClinGen TOPMed |
|
|
rs1041076405 RCV000808503 CA59747305 |
448 | K>E | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs770992382 CA1940978 |
455 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs749399439 CA1940977 |
456 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs781073900 CA1940976 |
457 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1401121508 CA349034148 |
460 | K>E | No |
ClinGen TOPMed |
|
|
CA349034087 rs1558995518 |
461 | I>T | No |
ClinGen Ensembl |
|
|
rs373760885 CA349034071 |
462 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1940975 rs373760885 |
462 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA59747267 rs945095657 |
463 | K>* | No |
ClinGen Ensembl |
|
|
rs892207276 CA59747266 |
464 | Q>R | No |
ClinGen TOPMed |
|
|
CA59746178 rs947021038 |
466 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA349033447 rs1573996883 |
471 | S>L | No |
ClinGen Ensembl |
|
|
rs778598587 CA1940951 |
472 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1480388170 CA349033426 |
473 | R>G | No |
ClinGen gnomAD |
|
|
CA349033422 rs1267313278 |
473 | R>I | No |
ClinGen gnomAD |
|
| TCGA novel | 473 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757020982 CA1940950 |
475 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA1940949 rs753385900 |
476 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349033335 rs1573996854 |
477 | K>* | No |
ClinGen Ensembl |
|
|
CA1940947 rs755699017 |
478 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA349033294 rs1256467766 |
478 | H>R | No |
ClinGen TOPMed |
|
|
rs753199090 CA1940946 |
479 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3694942 rs767939917 CA1940945 |
479 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs767939917 CA349033274 |
479 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349033223 rs1285047269 |
481 | Q>H | No |
ClinGen gnomAD |
|
|
rs751916901 CA1940943 |
483 | K>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 485 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349033113 rs1326502971 |
486 | T>A | No |
ClinGen gnomAD |
|
|
CA1940942 rs766572413 |
487 | W>L | No |
ClinGen ExAC |
|
|
rs1392766867 CA349033050 |
488 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 489 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763224582 CA1940941 COSM3701984 |
492 | I>V | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA349032873 rs1427848063 |
493 | Y>S | No |
ClinGen gnomAD |
|
|
rs374205386 CA59746096 |
494 | P>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs374205386 CA349032850 |
494 | P>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1480830872 CA349032837 |
495 | E>Q | No |
ClinGen gnomAD |
|
|
rs1180016339 CA349032805 |
496 | V>A | No |
ClinGen gnomAD |
|
|
rs773423949 CA1940940 COSM1400726 |
496 | V>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA349032737 rs1460826846 |
499 | P>R | No |
ClinGen TOPMed |
|
|
CA1940939 rs769810017 |
499 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA349032668 rs1385859099 |
504 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA349032659 rs761823954 |
505 | I>L | No |
ClinGen ExAC TOPMed |
|
|
CA1940938 rs761823954 |
505 | I>V | No |
ClinGen ExAC TOPMed |
|
|
CA59746070 rs1014664640 |
506 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA1940919 rs759459328 |
510 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs774436224 CA1940918 |
511 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA59745902 rs566042476 |
511 | S>N | No |
ClinGen Ensembl |
|
|
CA349032428 rs774436224 |
511 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1422974308 CA349032391 |
512 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA349032405 rs374713815 |
512 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1940916 rs374713815 |
512 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1043571450 CA59745851 |
513 | G>D | No |
ClinGen TOPMed |
|
|
CA1940915 rs200031817 |
514 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1474934820 CA349032360 |
515 | P>A | No |
ClinGen gnomAD |
|
|
rs1474934820 CA349032357 |
515 | P>S | No |
ClinGen gnomAD |
|
|
CA1940913 rs556568680 |
520 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1267550447 CA349032235 |
521 | G>E | No |
ClinGen gnomAD |
|
|
rs754517016 CA1940911 |
523 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1291968477 CA349032129 |
526 | G>* | No |
ClinGen gnomAD |
|
|
CA1940910 rs747412799 |
527 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 527 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1339087446 CA349032069 |
529 | P>S | No |
ClinGen gnomAD |
|
|
rs371714077 CA1940908 |
533 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1302616287 CA349031945 |
534 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs200815957 CA1940907 |
535 | C>* | No |
ClinGen ExAC gnomAD |
|
|
CA59745797 rs765424119 |
536 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1940906 rs765424119 |
536 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1940905 CA1940904 rs753948743 |
537 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349031893 rs1558994532 |
539 | G>R | No |
ClinGen Ensembl |
|
|
rs1281538429 CA349031874 |
540 | G>E | No |
ClinGen TOPMed |
|
|
rs764015322 CA1940903 |
541 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1940882 rs763048224 |
546 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs750387449 CA1940881 |
549 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA349029006 rs1447276577 |
549 | Q>R | No |
ClinGen gnomAD |
|
|
CA349028979 rs1405055666 |
550 | H>R | No |
ClinGen gnomAD |
|
|
CA1940879 rs201855584 COSM207658 |
553 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA1940880 rs764878326 |
553 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1464223356 CA349028842 |
554 | H>Q | No |
ClinGen Ensembl |
|
|
rs776110662 CA1940878 |
555 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA349028776 rs1409734825 |
557 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1177400674 CA349028767 |
557 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1940877 rs768399418 |
559 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760159041 CA1940876 |
560 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1558992611 CA349028663 |
561 | C>R | No |
ClinGen Ensembl |
|
|
CA1940875 rs775040032 |
562 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs377579661 CA1940872 |
564 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771159363 CA1940871 |
565 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs886042853 RCV000316331 CA10604774 |
565 | A>V | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA59742520 rs571016917 |
566 | Q>* | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1241107715 CA349028599 |
566 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA59742495 rs376449936 |
567 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376449936 CA1940870 |
567 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146521644 CA349028585 |
569 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1940867 rs373524164 |
570 | Q>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs781352133 CA1940866 |
570 | Q>H | No |
ClinGen ExAC |
|
|
rs750333904 CA1940864 |
571 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA349028511 rs1243794501 |
574 | C>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 575 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1275028884 CA349028405 |
577 | K>N | No |
ClinGen TOPMed |
|
|
CA349028349 rs1346419689 |
580 | K>Q | No |
ClinGen gnomAD |
|
|
CA349028317 rs1158946188 |
581 | T>R | No |
ClinGen gnomAD |
|
|
rs965701373 CA59742409 |
582 | V>I | No |
ClinGen TOPMed |
|
|
CA1940863 rs765255078 |
585 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA1940862 rs148063331 |
586 | E>G | No |
ClinGen ESP ExAC TOPMed |
|
|
CA349028236 rs1462404203 |
587 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1425885417 CA349028229 |
587 | Q>R | No |
ClinGen gnomAD |
|
|
rs1475920921 CA349028174 |
589 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1186422890 CA349028136 |
590 | E>D | No |
ClinGen gnomAD |
|
|
CA349028097 rs1558992511 |
592 | Q>R | No |
ClinGen Ensembl |
|
|
CA349027726 rs1391979879 |
594 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 595 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763883635 CA1940841 |
596 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA349027620 rs1403128728 |
598 | Y>H | No |
ClinGen gnomAD |
|
|
CA1940840 rs755918797 |
599 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA1940839 rs752300135 |
600 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349027553 rs1201348122 |
601 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs767196098 CA1940838 |
602 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA59741836 rs1009280244 |
603 | K>N | No |
ClinGen Ensembl |
|
|
CA59741828 rs142817583 CA1940837 |
604 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA349027459 rs1250002728 |
604 | M>V | No |
ClinGen gnomAD |
|
|
rs766791673 CA349027360 |
607 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1239923940 CA349027362 |
607 | S>A | No |
ClinGen TOPMed |
|
|
rs766791673 CA1940835 RCV000733030 |
607 | S>L | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs770232352 CA1940832 |
608 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1487328818 CA349027351 |
608 | A>T | No |
ClinGen TOPMed |
|
|
rs770232352 CA1940833 |
608 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs375108704 CA1940830 |
610 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA59741765 rs760639570 |
614 | S>N | No |
ClinGen gnomAD |
|
|
rs760639570 CA349027204 |
614 | S>T | No |
ClinGen gnomAD |
|
|
CA1940829 rs769052242 |
616 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA59741763 rs769052242 |
616 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 617 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1390053573 CA349027141 |
617 | S>P | No |
ClinGen gnomAD |
|
|
CA1940828 rs747050861 |
618 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA349027010 rs1469723086 |
621 | S>L | No |
ClinGen gnomAD |
|
|
CA1940826 rs758413452 |
622 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA1940825 rs201456142 RCV000887729 |
624 | L>F | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 625 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1323436546 CA349026935 |
625 | Q>E | No |
ClinGen gnomAD |
|
|
CA1940824 rs777711573 |
627 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs777711573 CA349026876 |
627 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA1940823 rs755865415 |
629 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1377981353 CA349026731 |
634 | D>E | No |
ClinGen TOPMed |
1 associated diseases with Q14435
[MIM: 211900]: Tumoral calcinosis, hyperphosphatemic, familial, 1 (HFTC1)
A form of hyperphosphatemic tumoral calcinosis, a rare autosomal recessive metabolic disorder that manifests with hyperphosphatemia and massive calcium deposits in the skin and subcutaneous tissues. Some patients have recurrent, transient, painful swellings of the long bones associated with the radiographic findings of periosteal reaction and cortical hyperostosis and absence of skin involvement. {ECO:0000269|PubMed:15133511, ECO:0000269|PubMed:15599692}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of hyperphosphatemic tumoral calcinosis, a rare autosomal recessive metabolic disorder that manifests with hyperphosphatemia and massive calcium deposits in the skin and subcutaneous tissues. Some patients have recurrent, transient, painful swellings of the long bones associated with the radiographic findings of periosteal reaction and cortical hyperostosis and absence of skin involvement. {ECO:0000269|PubMed:15133511, ECO:0000269|PubMed:15599692}. Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
| Description | ||
|---|---|---|
| EC Number | 2.4.1.41 | Hexosyltransferases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| Golgi cisterna membrane | The lipid bilayer surrounding any of the thin, flattened compartments that form the central portion of the Golgi complex. |
| Golgi membrane | The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| calcium ion binding | Binding to a calcium ion (Ca2+). |
| carbohydrate binding | Binding to a carbohydrate, which includes monosaccharides, oligosaccharides and polysaccharides as well as substances derived from monosaccharides by reduction of the carbonyl group (alditols), by oxidation of one or more hydroxy groups to afford the corresponding aldehydes, ketones, or carboxylic acids, or by replacement of one or more hydroxy group(s) by a hydrogen atom. Cyclitols are generally not regarded as carbohydrates. |
| manganese ion binding | Binding to a manganese ion (Mn). |
| polypeptide N-acetylgalactosaminyltransferase activity | Catalysis of the reaction: UDP-N-acetyl-D-galactosamine + polypeptide = UDP + N-acetyl-D-galactosaminyl-polypeptide. This reaction is the modification of serine or threonine residues in polypeptide chains by the transfer of a N-acetylgalactose from UDP-N-acetylgalactose to the hydroxyl group of the amino acid; it is the first step in O-glycan biosynthesis. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| carbohydrate metabolic process | The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. |
| fibroblast growth factor receptor signaling pathway | The series of molecular signals generated as a consequence of a fibroblast growth factor receptor binding to one of its physiological ligands. |
| O-glycan processing | The stepwise addition of carbohydrate or carbohydrate derivative residues to the initially added O-linked residue (usually GalNAc) to form a core O-glycan structure. |
| protein O-linked glycosylation | A protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of peptidyl-serine, peptidyl-threonine, peptidyl-hydroxylysine, or peptidyl-hydroxyproline, or via the phenol group of peptidyl-tyrosine, forming an O-glycan. |
| protein O-linked glycosylation via serine | The glycosylation of protein via the O3 atom of peptidyl-serine, forming O3-glycosyl-L-serine; the most common forms are N-acetylgalactosaminyl, mannosyl, galactosyl, and xylosyl serine. |
| protein O-linked glycosylation via threonine | The glycosylation of protein via the O3 atom of peptidyl-threonine, forming O3-glycosyl-L-threonine; the most common forms are N-acetylgalactosaminyl, mannosyl, and galactosyl threonine. |
| spermatogenesis | The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa. |
26 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q07537 | GALNT1 | Polypeptide N-acetylgalactosaminyltransferase 1 | Bos taurus (Bovine) | PR |
| Q6WV16 | Pgant6 | N-acetylgalactosaminyltransferase 6 | Drosophila melanogaster (Fruit fly) | PR |
| Q6WV17 | Pgant5 | Polypeptide N-acetylgalactosaminyltransferase 5 | Drosophila melanogaster (Fruit fly) | PR |
| Q9Y117 | Pgant3 | Polypeptide N-acetylgalactosaminyltransferase 3 | Drosophila melanogaster (Fruit fly) | PR |
| Q86SF2 | GALNT7 | N-acetylgalactosaminyltransferase 7 | Homo sapiens (Human) | PR |
| Q86SR1 | GALNT10 | Polypeptide N-acetylgalactosaminyltransferase 10 | Homo sapiens (Human) | PR |
| Q49A17 | GALNTL6 | Polypeptide N-acetylgalactosaminyltransferase-like 6 | Homo sapiens (Human) | PR |
| Q8IUC8 | GALNT13 | Polypeptide N-acetylgalactosaminyltransferase 13 | Homo sapiens (Human) | PR |
| Q96FL9 | GALNT14 | Polypeptide N-acetylgalactosaminyltransferase 14 | Homo sapiens (Human) | PR |
| Q10471 | GALNT2 | Polypeptide N-acetylgalactosaminyltransferase 2 | Homo sapiens (Human) | PR |
| Q8IXK2 | GALNT12 | Polypeptide N-acetylgalactosaminyltransferase 12 | Homo sapiens (Human) | PR |
| Q9NY28 | GALNT8 | Probable polypeptide N-acetylgalactosaminyltransferase 8 | Homo sapiens (Human) | PR |
| Q7Z7M9 | GALNT5 | Polypeptide N-acetylgalactosaminyltransferase 5 | Homo sapiens (Human) | PR |
| Q10472 | GALNT1 | Polypeptide N-acetylgalactosaminyltransferase 1 | Homo sapiens (Human) | PR |
| O08912 | Galnt1 | Polypeptide N-acetylgalactosaminyltransferase 1 | Mus musculus (Mouse) | PR |
| Q921L8 | Galnt11 | Polypeptide N-acetylgalactosaminyltransferase 11 | Mus musculus (Mouse) | PR |
| Q8BGT9 | Galnt12 | Polypeptide N-acetylgalactosaminyltransferase 12 | Mus musculus (Mouse) | PR |
| Q8CF93 | Galnt13 | Polypeptide N-acetylgalactosaminyltransferase 13 | Mus musculus (Mouse) | PR |
| P70419 | Galnt3 | Polypeptide N-acetylgalactosaminyltransferase 3 | Mus musculus (Mouse) | PR |
| Q29121 | GALNT1 | Polypeptide N-acetylgalactosaminyltransferase 1 | Sus scrofa (Pig) | PR |
| Q925R7 | Galnt10 | Polypeptide N-acetylgalactosaminyltransferase 10 | Rattus norvegicus (Rat) | PR |
| O88422 | Galnt5 | Polypeptide N-acetylgalactosaminyltransferase 5 | Rattus norvegicus (Rat) | PR |
| Q10473 | Galnt1 | Polypeptide N-acetylgalactosaminyltransferase 1 | Rattus norvegicus (Rat) | PR |
| Q6UE39 | Galnt13 | Polypeptide N-acetylgalactosaminyltransferase 13 | Rattus norvegicus (Rat) | PR |
| Q7K755 | gly-11 | Putative polypeptide N-acetylgalactosaminyltransferase 11 | Caenorhabditis elegans | PR |
| P34678 | gly-3 | Polypeptide N-acetylgalactosaminyltransferase 3 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAHLKRLVKL | HIKRHYHKKF | WKLGAVIFFF | IIVLVLMQRE | VSVQYSKEES | RMERNMKNKN |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KMLDLMLEAV | NNIKDAMPKM | QIGAPVRQNI | DAGERPCLQG | YYTAAELKPV | LDRPPQDSNA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PGASGKAFKT | TNLSVEEQKE | KERGEAKHCF | NAFASDRISL | HRDLGPDTRP | PECIEQKFKR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| CPPLPTTSVI | IVFHNEAWST | LLRTVHSVLY | SSPAILLKEI | ILVDDASVDE | YLHDKLDEYV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KQFSIVKIVR | QRERKGLITA | RLLGATVATA | ETLTFLDAHC | ECFYGWLEPL | LARIAENYTA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VVSPDIASID | LNTFEFNKPS | PYGSNHNRGN | FDWSLSFGWE | SLPDHEKQRR | KDETYPIKTP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TFAGGLFSIS | KEYFEYIGSY | DEEMEIWGGE | NIEMSFRVWQ | CGGQLEIMPC | SVVGHVFRSK |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SPHSFPKGTQ | VIARNQVRLA | EVWMDEYKEI | FYRRNTDAAK | IVKQKAFGDL | SKRFEIKHRL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| QCKNFTWYLN | NIYPEVYVPD | LNPVISGYIK | SVGQPLCLDV | GENNQGGKPL | IMYTCHGLGG |
| 550 | 560 | 570 | 580 | 590 | 600 |
| NQYFEYSAQH | EIRHNIQKEL | CLHAAQGLVQ | LKACTYKGHK | TVVTGEQIWE | IQKDQLLYNP |
| 610 | 620 | 630 | |||
| FLKMCLSANG | EHPSLVSCNP | SDPLQKWILS | QND |