P34897
PR
Gene name |
SHMT2 |
Protein name |
Serine hydroxymethyltransferase, mitochondrial |
Names |
SHMT, Glycine hydroxymethyltransferase, Serine methylase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6472 |
EC number |
2.1.2.1: Hydroxymethyl-, formyl- and related transferases |
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
19 structures for P34897
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4PVF | X-ray | 260 A | A/B | 22-504 | PDB |
| 5V7I | X-ray | 247 A | A/B | 29-504 | PDB |
| 5X3V | X-ray | 285 A | A/B | 22-504 | PDB |
| 6DK3 | X-ray | 204 A | A | 17-504 | PDB |
| 6H3C | EM | 390 A | E/J | 17-504 | PDB |
| 6M5O | X-ray | 230 A | A/B | 17-504 | PDB |
| 6QVG | X-ray | 232 A | A/B | 1-504 | PDB |
| 6QVL | X-ray | 228 A | A/B | 1-504 | PDB |
| 6R8F | EM | 380 A | K/L | 1-504 | PDB |
| 7BYI | X-ray | 276 A | A/B | 22-504 | PDB |
| 8AQL | X-ray | 123 A | A/B/C/D | 29-504 | PDB |
| 8FJT | X-ray | 247 A | A/B | 29-504 | PDB |
| 8FJU | X-ray | 251 A | A/B | 29-504 | PDB |
| 8QI7 | EM | 290 A | A/B/C/D | 29-504 | PDB |
| 8SSJ | X-ray | 250 A | A/B | 37-504 | PDB |
| 8T4O | X-ray | 268 A | A/B | 29-504 | PDB |
| 8T4P | X-ray | 280 A | A/B | 29-504 | PDB |
| 8TLC | X-ray | 272 A | A/B | 29-504 | PDB |
| AF-P34897-F1 | Predicted | AlphaFoldDB |
384 variants for P34897
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA385472386 VAR_085466 rs1426413125 RCV001270315 |
157 | P>S | Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities NEDCASB; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
rs769908186 VAR_085467 RCV001270316 RCV001374943 |
186 | T>R | Neurodevelopmental disorder Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities NEDCASB; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
|
VAR_085468 rs2037432429 RCV001270317 RCV001374944 |
379 | N>D | Neurodevelopmental disorder Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities NEDCASB; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
CA6646619 RCV001270312 VAR_085469 COSM941999 rs751223752 |
423 | G>S | Variant assessed as Somatic; 0.0 impact. endometrium Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities NEDCASB; unknown pathological significance [NCI-TCGA, Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs2037448764 VAR_085470 RCV001270314 |
435 | Q>P | Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities NEDCASB; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
VAR_085471 rs2037465152 RCV001270311 |
499 | P>A | Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities NEDCASB; no effect on protein abundance; decreased glycine hydroxymethyltransferase activity; associated with altered mitochondrial redox metabolism [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
|
CA237768228 rs1018328554 |
4 | F>L | No |
ClinGen TOPMed |
|
|
rs940454853 CA237768247 |
7 | F>L | No |
ClinGen Ensembl |
|
|
rs1288927296 CA385468441 |
8 | W>C | No |
ClinGen gnomAD |
|
|
CA385468422 rs1247786813 |
8 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
rs747807742 CA6646235 |
9 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs1321687419 CA385468463 |
10 | A>V | No |
ClinGen TOPMed |
|
|
CA385468468 rs1234551409 |
11 | R>P | No |
ClinGen gnomAD |
|
|
rs1205082451 CA385468466 |
11 | R>W | No |
ClinGen gnomAD |
|
|
CA385468587 rs1487312566 |
13 | L>P | No |
ClinGen gnomAD |
|
|
CA385468600 rs1292619200 |
14 | Q>R | No |
ClinGen TOPMed |
|
|
CA385468645 rs1216006197 |
16 | C>Y | No |
ClinGen gnomAD |
|
|
CA385468708 rs1333432063 |
19 | L>P | No |
ClinGen TOPMed |
|
|
CA385468737 rs1453830388 |
21 | R>S | No |
ClinGen gnomAD |
|
|
CA6646255 rs777502493 |
21 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1401525851 CA385468765 |
23 | A>D | No |
ClinGen TOPMed |
|
| TCGA novel | 23 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6646256 COSM1581734 rs138045473 |
24 | I>T | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs375322221 CA237768823 |
25 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA6646257 rs117173238 |
25 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs112251410 CA237768827 |
26 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1165343011 CA385468838 |
27 | Q>H | No |
ClinGen TOPMed |
|
|
rs778622265 CA6646258 |
29 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778622265 CA6646259 |
29 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771968637 CA385468889 |
30 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6646261 rs202041947 |
31 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA385468914 rs1565769175 |
32 | A>D | No |
ClinGen Ensembl |
|
|
CA6646262 rs747029667 |
35 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA6646263 rs768724103 |
35 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA385469100 rs1292550437 |
44 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA385469095 rs1239781364 |
44 | T>S | No |
ClinGen gnomAD |
|
|
CA385469175 rs1267305911 |
48 | S>N | No |
ClinGen gnomAD |
|
|
CA6646268 rs183592454 |
48 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA385469191 rs1468417532 |
49 | L>Q | No |
ClinGen TOPMed |
|
|
rs73338162 CA6646270 |
50 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA385469200 rs1270799088 |
50 | S>P | No |
ClinGen TOPMed |
|
|
CA6646271 rs73338162 |
50 | S>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1212618506 CA385469224 |
51 | D>E | No |
ClinGen TOPMed |
|
|
CA6646272 rs755645926 |
51 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385469240 rs1369646344 |
52 | S>T | No |
ClinGen gnomAD |
|
|
CA6646273 rs763720256 |
54 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1326517219 CA385469297 |
55 | E>V | No |
ClinGen TOPMed |
|
|
rs1162516961 CA385469324 |
56 | M>I | No |
ClinGen gnomAD |
|
|
rs1393127126 CA385469375 |
59 | L>F | No |
ClinGen gnomAD |
|
|
CA385469395 rs1329038936 |
61 | Q>* | No |
ClinGen gnomAD |
|
|
CA6646275 rs757010542 |
61 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6646276 rs778762177 |
62 | R>K | No |
ClinGen ExAC TOPMed |
|
|
CA385469435 rs1592681219 |
63 | E>G | No |
ClinGen Ensembl |
|
|
CA237768907 rs201874066 |
64 | K>E | No |
ClinGen Ensembl |
|
|
CA6646278 rs745706463 |
65 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA237768923 rs972339427 |
66 | R>G | No |
ClinGen TOPMed |
|
| TCGA novel | 67 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6646280 rs568519647 |
68 | C>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs141369249 CA6646281 |
68 | C>W | No |
ClinGen ESP ExAC gnomAD |
|
|
rs373440935 CA385469554 |
69 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376369904 CA6646283 |
69 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6646284 rs376369904 |
69 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373440935 CA6646282 |
69 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385469569 rs1427117085 |
70 | G>A | No |
ClinGen TOPMed |
|
|
CA385469560 rs1169963526 |
70 | G>C | No |
ClinGen TOPMed |
|
|
rs1171974393 CA385469586 |
72 | E>* | No |
ClinGen gnomAD |
|
| TCGA novel | 74 | I>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA237768938 rs773986530 |
75 | A>T | No |
ClinGen Ensembl |
|
|
rs12319666 CA237768940 |
77 | E>* | No |
ClinGen Ensembl |
|
|
rs1565769889 CA385469810 |
80 | C>G | No |
ClinGen Ensembl |
|
|
rs771179680 CA6646306 |
80 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6646307 rs774894491 |
81 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs760114958 CA385469840 |
82 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA237769262 rs11557163 |
82 | R>P | No |
ClinGen gnomAD |
|
|
rs11557163 CA385469846 |
82 | R>Q | No |
ClinGen gnomAD |
|
|
rs554585552 CA6646309 |
84 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6646310 COSM1363269 rs373156028 |
87 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA385469935 rs1168068668 |
88 | L>V | No |
ClinGen TOPMed |
|
|
CA385469953 rs1488946349 |
89 | G>E | No |
ClinGen gnomAD |
|
|
CA385469980 rs1474967523 |
91 | C>R | No |
ClinGen TOPMed |
|
|
CA6646312 rs764829768 |
91 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA385470023 rs1261909751 |
93 | N>K | No |
ClinGen gnomAD |
|
|
rs1432419003 CA385470138 |
99 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs11557167 CA237769280 |
101 | P>S | No |
ClinGen Ensembl |
|
|
rs573394633 CA6646316 |
102 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA237769289 rs778023306 |
104 | R>K | No |
ClinGen Ensembl |
|
|
rs1229555237 CA385471493 |
105 | Y>F | No |
ClinGen gnomAD |
|
|
CA6646337 rs150389862 |
105 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1321047725 CA385471540 |
107 | G>A | No |
ClinGen gnomAD |
|
|
rs781143002 CA6646338 |
107 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 108 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1348961897 CA385471590 |
111 | V>A | No |
ClinGen TOPMed |
|
|
CA237769443 rs11557162 |
113 | D>Y | No |
ClinGen Ensembl |
|
|
CA6646343 rs746120843 |
119 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746120843 CA385471712 |
119 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758782130 CA6646344 |
119 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA385471736 rs1183655892 |
120 | Q>* | No |
ClinGen gnomAD |
|
|
CA385471739 rs1411799236 |
120 | Q>P | No |
ClinGen gnomAD |
|
|
rs375584473 CA6646345 |
121 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs747439440 CA6646346 |
121 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA385471764 rs1333645257 |
122 | R>G | No |
ClinGen TOPMed |
|
|
CA385471769 rs1402843290 |
122 | R>Q | No |
ClinGen gnomAD |
|
|
CA385471767 rs1333645257 |
122 | R>W | No |
ClinGen TOPMed |
|
|
CA6646348 rs777019730 |
125 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA6646349 rs748770680 |
129 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA6646350 rs770462073 |
131 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1415175004 CA385471928 |
131 | P>T | No |
ClinGen TOPMed |
|
|
rs1281896384 CA385472005 |
135 | G>E | No |
ClinGen gnomAD |
|
|
CA385472083 rs1219115599 |
140 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1565770307 CA385472137 |
142 | S>Y | No |
ClinGen Ensembl |
|
|
rs527594157 CA6646354 |
143 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA385472214 rs1592682713 |
147 | N>T | No |
ClinGen Ensembl |
|
|
rs1212558939 CA385472228 |
148 | L>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 149 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6646357 rs143872444 |
150 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385472287 COSM1581735 rs1388167101 |
151 | Y>C | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA6646359 rs370853912 |
158 | H>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
CA237769553 rs749155543 |
159 | D>N | No |
ClinGen gnomAD |
|
|
rs1351724065 CA385472445 |
160 | R>Q | No |
ClinGen gnomAD |
|
|
CA385472443 rs1415799943 |
160 | R>W | No |
ClinGen gnomAD |
|
|
CA385472461 rs1331817568 |
161 | I>T | No |
ClinGen gnomAD |
|
|
CA237769554 rs202020747 |
162 | M>I | No |
ClinGen Ensembl |
|
|
rs1592682807 CA385472481 |
162 | M>R | No |
ClinGen Ensembl |
|
|
CA385472543 rs1299895743 |
167 | P>S | No |
ClinGen gnomAD |
|
|
CA237769564 rs914181473 |
168 | D>H | No |
ClinGen gnomAD |
|
|
rs914181473 CA385472556 |
168 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA385472610 rs1275188549 |
171 | H>R | No |
ClinGen gnomAD |
|
|
rs1565770803 CA385472720 |
173 | T>A | No |
ClinGen Ensembl |
|
|
rs1565770803 CA385472716 |
173 | T>P | No |
ClinGen Ensembl |
|
|
CA385472733 rs1299338066 |
174 | H>P | No |
ClinGen TOPMed |
|
|
rs1374673886 CA385472731 |
174 | H>Y | No |
ClinGen gnomAD |
|
|
COSM192280 rs1040216145 CA237769798 |
175 | G>S | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1359070944 CA385472784 |
177 | M>K | No |
ClinGen gnomAD |
|
|
CA6646386 rs745322857 |
177 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs11557166 CA6646388 |
179 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1028301753 CA237769801 |
180 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1235979303 CA385472879 |
182 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA385472875 rs1235979303 |
182 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs768472850 CA6646390 |
182 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1160684368 CA385472888 |
183 | I>L | No |
ClinGen TOPMed |
|
|
rs1187621650 CA385472925 |
185 | A>S | No |
ClinGen gnomAD |
|
|
rs769908186 CA6646393 |
186 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773289889 CA6646395 |
188 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1313489843 CA385473006 |
191 | E>* | No |
ClinGen gnomAD |
|
|
CA237769831 rs909246167 |
192 | S>F | No |
ClinGen Ensembl |
|
|
rs759718961 CA385473034 |
193 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs759718961 CA6646399 |
193 | M>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 195 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1230478142 CA385473056 |
195 | Y>H | No |
ClinGen gnomAD |
|
|
CA6646401 rs753120125 |
197 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA385473089 rs1200927639 |
198 | N>D | No |
ClinGen gnomAD |
|
|
rs972643721 CA237770043 |
199 | P>A | No |
ClinGen Ensembl |
|
| TCGA novel | 200 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385473147 rs1433047670 |
200 | K>Q | No |
ClinGen Ensembl |
|
|
rs1205701226 CA385473170 |
201 | T>I | No |
ClinGen TOPMed |
|
|
CA385473162 rs1592684178 |
201 | T>P | No |
ClinGen Ensembl |
|
|
rs760986751 CA6646419 |
203 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA385473202 rs1485499436 |
204 | I>T | No |
ClinGen TOPMed |
|
|
CA6646422 rs757740427 |
207 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs754320831 CA6646421 |
207 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1267627263 CA385473248 |
208 | Q>* | No |
ClinGen TOPMed |
|
|
CA6646423 rs765905599 |
210 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs751086075 CA6646424 |
210 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA237770125 rs932716913 |
213 | A>G | No |
ClinGen TOPMed |
|
|
rs932716913 CA385473307 |
213 | A>V | No |
ClinGen TOPMed |
|
|
CA237770130 rs751759388 |
214 | R>* | No |
ClinGen gnomAD |
|
|
CA6646426 rs199498720 |
214 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6646428 rs755954996 |
217 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6646427 rs747827761 |
217 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1260078285 CA385473355 |
218 | P>R | No |
ClinGen gnomAD |
|
|
CA6646429 COSM1225663 rs184950916 |
219 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA237770135 rs377091363 |
219 | R>W | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1452773614 CA385473375 |
220 | L>R | No |
ClinGen gnomAD |
|
|
CA237770136 rs757310852 |
221 | I>M | No |
ClinGen Ensembl |
|
|
rs749243816 CA6646430 |
222 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 225 | T>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1000229352 CA237770139 |
226 | S>G | No |
ClinGen TOPMed |
|
|
CA385473432 rs1000229352 |
226 | S>R | No |
ClinGen TOPMed |
|
|
rs774360462 CA6646432 |
230 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759605261 CA6646433 |
230 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA237770162 rs760935958 |
235 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs775639509 CA385473545 |
235 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6646435 rs775639509 |
235 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6646436 rs760935958 |
235 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6646437 rs143192247 |
236 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201088482 CA6646438 COSM247313 |
236 | R>H | prostate [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs201088482 CA385473558 |
236 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 239 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6646470 rs778817041 |
242 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs750296262 CA6646471 |
243 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA6646472 rs758392212 |
246 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA385473729 rs1433611056 |
247 | H>R | No |
ClinGen TOPMed |
|
|
CA237770405 rs1019331798 |
250 | A>V | No |
ClinGen TOPMed |
|
|
CA237770417 rs756109246 |
252 | M>T | No |
ClinGen Ensembl |
|
|
CA6646474 rs747029594 |
254 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1409003234 CA385473790 |
256 | S>R | No |
ClinGen TOPMed |
|
| TCGA novel | 257 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385473808 rs1592684914 |
259 | V>G | No |
ClinGen Ensembl |
|
|
CA385473811 rs1279836770 |
260 | A>S | No |
ClinGen gnomAD |
|
|
rs1592684938 CA385473821 |
262 | K>Q | No |
ClinGen Ensembl |
|
|
rs1592684958 CA385473834 |
263 | V>G | No |
ClinGen Ensembl |
|
|
CA385473831 rs1337231262 |
263 | V>L | No |
ClinGen gnomAD |
|
|
CA385473835 rs1212983205 |
264 | I>V | No |
ClinGen gnomAD |
|
|
CA237770443 rs1025966420 |
265 | P>S | No |
ClinGen Ensembl |
|
|
rs748454200 CA6646477 |
266 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148573932 CA6646480 |
269 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6646482 rs760592358 |
271 | A>T | Variant assessed as Somatic; 9.246e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA385473885 COSM1225664 rs1265731467 |
271 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA385473891 rs1166900191 |
272 | D>V | No |
ClinGen gnomAD |
|
|
CA6646485 rs753409171 |
273 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA237770455 rs891807785 |
273 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6646486 rs151127748 |
274 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs764937227 CA6646487 |
275 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA385473950 rs1324400201 |
282 | L>V | No |
ClinGen gnomAD |
|
|
CA6646489 rs758199349 COSM941998 |
283 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA6646490 rs766234858 |
283 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs751526794 CA6646491 |
285 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1290980872 CA385474025 |
292 | Y>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs936039600 CA237770711 |
293 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs779456642 CA6646517 |
293 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1046701689 CA237770717 |
294 | K>Q | No |
ClinGen Ensembl |
|
|
rs746368833 CA6646518 |
295 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA385474039 rs1320744021 |
295 | G>R | No |
ClinGen TOPMed |
|
|
CA385474054 rs1439981987 |
297 | K>R | No |
ClinGen gnomAD |
|
|
rs1361601969 CA385474058 |
298 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs201477117 CA6646521 |
299 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6646520 rs201477117 |
299 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 300 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA237770741 rs374569470 |
301 | P>S | No |
ClinGen ESP TOPMed |
|
|
CA237770746 CA385474086 rs772801046 |
302 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA6646522 rs769217458 |
302 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367706631 CA6646524 |
303 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6646526 rs139092594 |
305 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs530949491 CA6646525 |
305 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1363382012 CA385474121 |
308 | P>L | No |
ClinGen gnomAD |
|
|
CA385474128 rs1163149022 |
309 | Y>* | No |
ClinGen TOPMed |
|
|
rs1238913785 CA385474135 |
310 | T>I | No |
ClinGen gnomAD |
|
|
rs1411963543 CA385474149 |
312 | E>A | No |
ClinGen TOPMed |
|
|
CA237770798 rs770224600 |
314 | R>* | No |
ClinGen gnomAD |
|
|
rs775976786 CA6646528 |
314 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385474189 rs1168449397 |
318 | A>V | No |
ClinGen TOPMed |
|
|
CA6646530 rs144005044 |
319 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144005044 CA237770809 |
319 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1247743201 CA385474209 |
321 | P>L | No |
ClinGen gnomAD |
|
|
CA385474215 rs1191241809 |
322 | S>F | No |
ClinGen TOPMed |
|
|
rs754079169 CA6646532 |
324 | Q>* | No |
ClinGen ExAC gnomAD |
|
| rs35603162 | 326 | G>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752002016 CA237770834 |
326 | G>S | No |
ClinGen gnomAD |
|
|
rs779404089 CA6646535 |
326 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs758693175 CA385474251 |
328 | H>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 328 | H>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1174556974 CA385474253 |
329 | N>D | No |
ClinGen Ensembl |
|
|
CA385474256 rs1342535267 |
329 | N>S | No |
ClinGen TOPMed |
|
|
rs1334996682 CA385474260 |
330 | H>D | No |
ClinGen gnomAD |
|
| TCGA novel | 331 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385474289 rs1413510305 |
334 | A>T | No |
ClinGen gnomAD |
|
|
rs371269540 CA6646539 |
335 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385474303 rs1319062101 |
336 | A>G | No |
ClinGen gnomAD |
|
|
CA6646540 rs769319081 |
337 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1199847720 CA385474365 |
344 | T>I | No |
ClinGen TOPMed |
|
|
CA6646555 rs750414570 |
345 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1209993247 CA385474370 |
345 | P>H | No |
ClinGen gnomAD |
|
|
CA385474369 rs750414570 |
345 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA6646557 rs752105459 |
346 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA6646556 rs371588002 |
346 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 348 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201473547 CA6646559 |
348 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6646558 rs755497969 |
348 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748730415 CA6646560 |
349 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1428115286 CA385474391 |
349 | E>K | No |
ClinGen gnomAD |
|
|
rs1397503206 CA385474411 |
351 | S>F | No |
ClinGen Ensembl |
|
|
CA385474419 rs1173498575 |
353 | Q>* | No |
ClinGen gnomAD |
|
|
CA385474457 rs1287462940 |
358 | A>V | No |
ClinGen gnomAD |
|
|
CA6646564 rs771871398 |
359 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA6646565 rs771871398 |
359 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs913349362 CA237771117 COSM72632 |
359 | R>W | ovary Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA6646567 rs760644091 |
362 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6646568 rs369589054 |
368 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs776714754 CA6646569 |
368 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs372801976 CA6646570 |
370 | Y>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773458577 CA6646572 |
372 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs773224457 CA6646589 |
375 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA385404591 rs1460545274 |
376 | G>D | No |
ClinGen gnomAD |
|
|
CA6646591 rs766445638 |
378 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA6646590 rs763108760 |
378 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs576397341 CA6646595 |
382 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1291160382 CA385404631 |
383 | L>V | No |
ClinGen gnomAD |
|
|
CA6646596 rs756683322 |
384 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385404646 rs1273994701 |
385 | D>E | No |
ClinGen gnomAD |
|
|
CA6646600 rs757926985 |
387 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749842795 CA6646599 |
387 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1290125788 CA385404664 |
389 | K>E | No |
ClinGen gnomAD |
|
|
rs779532926 CA6646601 |
390 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1326876827 CA385404676 |
391 | L>V | No |
ClinGen gnomAD |
|
|
CA6646602 rs746681555 |
394 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA385404698 rs746681555 |
394 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA385404701 rs1186686992 |
395 | R>P | No |
ClinGen gnomAD |
|
|
CA385404700 rs1186686992 |
395 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs369332082 CA6646603 |
395 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6646604 rs781171108 |
397 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145565217 CA385404716 |
398 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs543789322 CA6646606 |
398 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs145565217 CA6646605 |
398 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 401 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA237751380 rs1032300360 |
402 | L>R | No |
ClinGen TOPMed |
|
|
rs773206427 CA6646607 |
403 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA385404752 rs1565773242 |
404 | S>C | No |
ClinGen Ensembl |
|
|
rs1354527520 CA385404754 |
405 | I>L | No |
ClinGen gnomAD |
|
|
rs749288927 CA6646608 |
405 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs771068111 CA6646609 |
406 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA6646610 rs774418558 |
409 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA385404817 rs1247565549 |
414 | G>E | No |
ClinGen TOPMed |
|
|
CA6646613 rs373701336 |
415 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6646614 rs558698064 |
416 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6646615 rs199818914 |
416 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs866649122 CA237751381 |
421 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs866649122 CA385404860 |
421 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA385404859 rs1244233301 |
421 | P>S | No |
ClinGen gnomAD |
|
|
CA385404865 rs1245688058 |
422 | G>D | No |
ClinGen gnomAD |
|
|
CA385404870 rs1171269229 |
423 | G>D | No |
ClinGen gnomAD |
|
|
rs781006721 CA6646621 |
425 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6646620 rs754743336 |
425 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1592687586 CA385404903 |
427 | G>W | No |
ClinGen Ensembl |
|
|
CA6646635 rs765801824 |
428 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA6646634 rs75878068 |
428 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA385404988 rs1240306259 |
429 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 432 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs560987048 CA6646636 |
433 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 433 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759124152 CA6646637 |
434 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs985002692 CA237751387 |
434 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
COSM192281 rs371444119 CA6646640 |
437 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA6646641 COSM147554 rs189439132 |
437 | R>H | stomach haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs1565773650 CA385405139 |
439 | D>H | No |
ClinGen Ensembl |
|
|
rs1437905117 CA385405147 |
439 | D>V | No |
ClinGen gnomAD |
|
|
rs11557165 CA237751388 |
440 | D>Y | No |
ClinGen Ensembl |
|
|
rs143597171 CA385405194 |
442 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6646645 rs778832418 |
442 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs778832418 CA6646644 |
442 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs143597171 CA6646643 |
442 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385405210 rs1165339352 |
443 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1165339352 CA385405214 |
443 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA385405224 rs1238186124 |
444 | V>I | No |
ClinGen gnomAD |
|
|
CA6646646 rs772166379 |
446 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA6646647 rs780197276 |
449 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs747303950 CA6646648 |
450 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA385405362 rs1392024956 |
451 | G>A | No |
ClinGen gnomAD |
|
|
rs202118297 CA385405367 |
452 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs202118297 CA6646649 |
452 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA385405418 rs1294243777 |
454 | I>T | No |
ClinGen gnomAD |
|
|
CA6646651 rs748588102 |
454 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6646652 rs770359345 |
456 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1264504032 CA385405514 |
459 | K>R | No |
ClinGen gnomAD |
|
|
CA385405524 rs1339726314 |
460 | S>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6646676 rs760119674 |
466 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs376786689 CA6646677 |
469 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385405792 rs1388326408 |
470 | S>Y | No |
ClinGen gnomAD |
|
|
rs761616718 CA6646679 |
471 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143811737 CA6646680 |
473 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6646681 rs369976295 |
474 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 475 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385405868 rs1450566911 |
476 | S>L | No |
ClinGen TOPMed |
|
|
rs182091061 CA6646682 |
477 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA385405903 rs1383517361 |
479 | S>I | No |
ClinGen gnomAD |
|
|
rs766431147 CA6646683 COSM942001 |
481 | R>C | pancreas endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA385405933 rs766431147 |
481 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6646684 rs536394351 |
481 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs536394351 CA385405937 |
481 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6646685 rs755044578 |
484 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385405961 rs1305045661 |
485 | L>F | No |
ClinGen gnomAD |
|
|
CA237751400 rs865849092 |
487 | Q>R | No |
ClinGen Ensembl |
|
|
CA6646688 rs200906224 |
488 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1261055782 CA385405980 |
488 | R>W | No |
ClinGen gnomAD |
|
|
rs1413733693 CA385405989 |
490 | E>K | No |
ClinGen TOPMed |
|
|
rs1194301928 CA385406015 |
493 | A>S | No |
ClinGen gnomAD |
|
|
rs1397017601 CA385406018 |
493 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 495 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779295620 CA6646693 |
495 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1319043366 CA385406040 |
497 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs746483784 CA6646694 |
498 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA237751404 rs1043924088 |
502 | D>H | No |
ClinGen Ensembl |
|
|
rs1386084291 CA385406086 CA385406085 |
503 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs768068900 CA6646695 |
503 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1369966821 CA385406089 |
504 | H>Y | No |
ClinGen gnomAD |
1 associated diseases with P34897
[MIM: 619121]: Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB)
An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, moderate to severe intellectual disability, spastic paraparesis, ataxia, and/or peripheral neuropathy. Patients also exhibit dysmorphic features and congenital microcephaly. Most affected individuals develop progressive hypertrophic cardiomyopathy in childhood or have cardiac developmental anomalies. Brain imaging shows corpus callosum abnormalities in all patients, and perisylvian polymicrogyria-like pattern in some individuals. {ECO:0000269|PubMed:33015733}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, moderate to severe intellectual disability, spastic paraparesis, ataxia, and/or peripheral neuropathy. Patients also exhibit dysmorphic features and congenital microcephaly. Most affected individuals develop progressive hypertrophic cardiomyopathy in childhood or have cardiac developmental anomalies. Brain imaging shows corpus callosum abnormalities in all patients, and perisylvian polymicrogyria-like pattern in some individuals. {ECO:0000269|PubMed:33015733}. Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
| Description | ||
|---|---|---|
| EC Number | 2.1.2.1 | Hydroxymethyl-, formyl- and related transferases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
11 GO annotations of cellular component
| Name | Definition |
|---|---|
| BRISC complex | A protein complex that contains the FAM175B/ABRO1, BRCC3/BRCC36, BRE/BRCC45 and MERIT40/NBA1 proteins, and specifically cleaves K63-linked polyubiquitin chains. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| 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. |
| microtubule cytoskeleton | The part of the cytoskeleton (the internal framework of a cell) composed of microtubules and associated proteins. |
| mitochondrial inner membrane | The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae. |
| mitochondrial intermembrane space | The region between the inner and outer lipid bilayers of the mitochondrial envelope. |
| mitochondrial matrix | The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation. |
| mitochondrial nucleoid | The region of a mitochondrion to which the DNA is confined. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
9 GO annotations of molecular function
| Name | Definition |
|---|---|
| chromatin binding | Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase. |
| glycine hydroxymethyltransferase activity | Catalysis of the reaction: 5,10-methylenetetrahydrofolate + glycine + H2O = tetrahydrofolate + L-serine. |
| L-allo-threonine aldolase activity | Catalysis of the reaction: L-allo-threonine = glycine + acetaldehyde. |
| mRNA 5'-UTR binding | Binding to an mRNA molecule at its 5' untranslated region. |
| mRNA regulatory element binding translation repressor activity | Antagonizes the ribosome-mediated translation of mRNA into a polypeptide via direct binding (through a selective and non-covalent interaction) to nucleic acid. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
| pyridoxal phosphate binding | Binding to pyridoxal 5' phosphate, 3-hydroxy-5-(hydroxymethyl)-2-methyl4-pyridine carboxaldehyde 5' phosphate, the biologically active form of vitamin B6. |
| serine binding | Binding to 2-amino-3-hydroxypropanoic acid. |
| zinc ion binding | Binding to a zinc ion (Zn). |
18 GO annotations of biological process
| Name | Definition |
|---|---|
| folic acid metabolic process | The chemical reactions and pathways involving folic acid, pteroylglutamic acid. Folic acid is widely distributed as a member of the vitamin B complex and is essential for the synthesis of purine and pyrimidines. |
| glycine biosynthetic process from serine | The chemical reactions and pathways resulting in the formation of glycine from other compounds, including serine. |
| glycine metabolic process | The chemical reactions and pathways involving glycine, aminoethanoic acid. |
| L-serine biosynthetic process | The chemical reactions and pathways resulting in the formation of L-serine, the L-enantiomer of serine, i.e. (2S)-2-amino-3-hydroxypropanoic acid. |
| L-serine catabolic process | The chemical reactions and pathways resulting in the breakdown of L-serine, the L-enantiomer of serine, i.e. (2S)-2-amino-3-hydroxypropanoic acid. |
| L-serine metabolic process | The chemical reactions and pathways involving L-serine, the L-enantiomer of serine, i.e. (2S)-2-amino-3-hydroxypropanoic acid. |
| one-carbon metabolic process | The chemical reactions and pathways involving the transfer of one-carbon units in various oxidation states. |
| positive regulation of cell population proliferation | Any process that activates or increases the rate or extent of cell proliferation. |
| protein homotetramerization | The formation of a protein homotetramer, a macromolecular structure consisting of four noncovalently associated identical subunits. |
| protein K63-linked deubiquitination | A protein deubiquitination process in which a K63-linked ubiquitin chain, i.e. a polymer of ubiquitin formed by linkages between lysine residues at position 63 of the ubiquitin monomers, is removed from a protein. |
| protein tetramerization | The formation of a protein tetramer, a macromolecular structure consisting of four noncovalently associated identical or nonidentical subunits. |
| purine nucleobase biosynthetic process | The chemical reactions and pathways resulting in the formation of purine nucleobases, one of the two classes of nitrogen-containing ring compounds found in DNA and RNA, which include adenine and guanine. |
| regulation of aerobic respiration | Any process that modulates the frequency, rate or extent of aerobic respiration. |
| regulation of mitochondrial translation | Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA in a mitochondrion. |
| regulation of oxidative phosphorylation | Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the phosphorylation of ADP to ATP that accompanies the oxidation of a metabolite through the operation of the respiratory chain. Oxidation of compounds establishes a proton gradient across the membrane, providing the energy for ATP synthesis. |
| response to type I interferon | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a type I interferon stimulus. Type I interferons include the interferon-alpha, beta, delta, episilon, zeta, kappa, tau, and omega gene families. |
| tetrahydrofolate interconversion | The chemical reactions and pathways by which one-carbon (C1) units are transferred between tetrahydrofolate molecules, to synthesise other tetrahydrofolate molecules. |
| tetrahydrofolate metabolic process | The chemical reactions and pathways involving tetrahydrofolate, 5,6,7,8-tetrahydrofolic acid, a folate derivative bearing additional hydrogens on the pterin group. |
2 homologous proteins in AiPD
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLYFSLFWAA | RPLQRCGQLV | RMAIRAQHSN | AAQTQTGEAN | RGWTGQESLS | DSDPEMWELL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QREKDRQCRG | LELIASENFC | SRAALEALGS | CLNNKYSEGY | PGKRYYGGAE | VVDEIELLCQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RRALEAFDLD | PAQWGVNVQP | YSGSPANLAV | YTALLQPHDR | IMGLDLPDGG | HLTHGYMSDV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KRISATSIFF | ESMPYKLNPK | TGLIDYNQLA | LTARLFRPRL | IIAGTSAYAR | LIDYARMREV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| CDEVKAHLLA | DMAHISGLVA | AKVIPSPFKH | ADIVTTTTHK | TLRGARSGLI | FYRKGVKAVD |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PKTGREIPYT | FEDRINFAVF | PSLQGGPHNH | AIAAVAVALK | QACTPMFREY | SLQVLKNARA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| MADALLERGY | SLVSGGTDNH | LVLVDLRPKG | LDGARAERVL | ELVSITANKN | TCPGDRSAIT |
| 430 | 440 | 450 | 460 | 470 | 480 |
| PGGLRLGAPA | LTSRQFREDD | FRRVVDFIDE | GVNIGLEVKS | KTAKLQDFKS | FLLKDSETSQ |
| 490 | 500 | ||||
| RLANLRQRVE | QFARAFPMPG | FDEH |