P50440
PR
Gene name |
GATM (AGAT) |
Protein name |
Glycine amidinotransferase, mitochondrial |
Names |
L-arginine:glycine amidinotransferase, Transamidinase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2628 |
EC number |
2.1.4.1: Amidinotransferases |
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
12 structures for P50440
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1JDW | X-ray | 190 A | A | 1-423 | PDB |
| 1JDX | X-ray | 240 A | A | 38-423 | PDB |
| 2JDW | X-ray | 210 A | A | 1-423 | PDB |
| 2JDX | X-ray | 290 A | A | 38-423 | PDB |
| 3JDW | X-ray | 240 A | A | 1-423 | PDB |
| 4JDW | X-ray | 250 A | A | 1-423 | PDB |
| 5JDW | X-ray | 260 A | A | 38-423 | PDB |
| 6JDW | X-ray | 250 A | A | 38-423 | PDB |
| 7JDW | X-ray | 237 A | A | 38-423 | PDB |
| 8JDW | X-ray | 230 A | A | 38-423 | PDB |
| 9JDW | X-ray | 250 A | A | 38-423 | PDB |
| AF-P50440-F1 | Predicted | AlphaFoldDB |
292 variants for P50440
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs796052538 RCV000187606 RCV000813161 CA314884 RCV002514005 |
3 | R>G | Arginine:glycine amidinotransferase deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1566843333 RCV000701431 CA392266613 |
13 | G>S | Arginine:glycine amidinotransferase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001049247 RCV001776106 rs1000621646 CA270174346 |
20 | I>M | Arginine:glycine amidinotransferase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
VAR_076483 RCV000488912 CA270174340 rs370155767 |
23 | R>Q | CCDS3; unknown pathological significance; reduces glycine amidinotransferase activity [UniProt] | Yes |
ClinGen ClinVar UniProt ESP dbSNP |
|
rs199530681 CA270173214 RCV001221731 |
46 | S>C | Arginine:glycine amidinotransferase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000418870 rs777639154 CA7542988 RCV002525508 |
47 | R>Q | Arginine:glycine amidinotransferase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002315412 rs780777061 CA392265522 |
54 | D>H | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001316712 RCV002506177 CA7542985 rs780777061 RCV000731548 RCV000678799 |
54 | D>N | Arginine:glycine amidinotransferase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001115229 rs765462268 |
61 | P>A | Arginine:glycine amidinotransferase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000694186 CA392265208 rs1566842679 |
72 | W>* | Arginine:glycine amidinotransferase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001039495 rs1889642061 |
73 | D>N | Arginine:glycine amidinotransferase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000821043 rs1595485790 CA392265052 |
82 | R>K | Arginine:glycine amidinotransferase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001251998 rs1889641277 |
86 | A>S | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001244049 RCV002492864 rs192378417 RCV001721195 CA314864 |
93 | I>M | Arginine:glycine amidinotransferase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000488891 rs34991226 CA314862 VAR_076484 RCV000187595 RCV001069294 RCV002433842 |
93 | I>V | Arginine:glycine amidinotransferase deficiency Inborn genetic diseases CCDS3; unknown pathological significance; reduces glycine amidinotransferase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs376335787 CA7542949 VAR_076485 RCV000488901 |
102 | K>N | CCDS3; unknown pathological significance; reduces glycine amidinotransferase activity [UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC dbSNP gnomAD |
|
CA270169359 RCV000488911 rs147804855 RCV003159110 VAR_076486 |
105 | P>L | Variant assessed as Somatic; impact. Arginine:glycine amidinotransferase deficiency CCDS3; loss of glycine amidinotransferase activity [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP NCI-TCGA dbSNP |
|
rs1398822076 RCV001230603 CA392262153 |
108 | Q>R | Arginine:glycine amidinotransferase deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
VAR_020305 RCV002312115 RCV000711747 CA7542948 CA288886 RCV000312436 RCV000117125 RCV001701669 RCV000431046 rs1288775 |
110 | Q>H | Arginine:glycine amidinotransferase deficiency Inborn genetic diseases Fanconi renotubular syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD UniProt |
|
RCV001313706 rs1889504232 |
113 | H>D | Arginine:glycine amidinotransferase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs910754475 RCV001065263 CA270169339 RCV002482091 |
113 | H>R | Arginine:glycine amidinotransferase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1472551759 CA392261994 RCV001046578 |
117 | K>R | Arginine:glycine amidinotransferase deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002315359 CA392261971 rs757696021 |
119 | H>D | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1566840902 RCV000678800 CA392261915 |
123 | A>T | Lennox-Gastaut syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA7542943 CA392261829 RCV000538962 rs756420233 |
129 | E>D | Arginine:glycine amidinotransferase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000803319 CA7542940 rs759658712 |
132 | N>S | Arginine:glycine amidinotransferase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000437121 RCV002317103 rs148564534 RCV001251999 CA314868 RCV001082642 |
136 | T>M | Intellectual disability Arginine:glycine amidinotransferase deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1889500716 RCV001059706 |
148 | D>E | Arginine:glycine amidinotransferase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA340668 rs80338737 RCV000007725 |
149 | W>* | Arginine:glycine amidinotransferase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs780398292 CA7542906 RCV001121790 RCV002491377 |
165 | S>N | Arginine:glycine amidinotransferase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA263242 rs397514708 RCV000049332 RCV002490622 |
169 | R>* | Variant assessed as Somatic; 0.0 impact. Arginine:glycine amidinotransferase deficiency [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000532023 rs747203599 CA7542905 |
171 | I>F | Arginine:glycine amidinotransferase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA7542902 RCV001201875 RCV000488903 VAR_076487 rs376982466 |
181 | E>K | Variant assessed as Somatic; 0.0 impact. Arginine:glycine amidinotransferase deficiency CCDS3; loss of glycine amidinotransferase activity [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| VAR_076488 | 185 | A>P | CCDS3; decreases glycine amidinotransferase activity [UniProt] | Yes | UniProt |
|
CA7542898 COSM244666 VAR_076489 RCV002494552 rs377578020 RCV000488885 RCV000810963 |
189 | R>C | biliary_tract Arginine:glycine amidinotransferase deficiency prostate CCDS3; loss of glycine amidinotransferase activity [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs774017569 CA7542896 RCV000645718 |
194 | R>Q | Variant assessed as Somatic; 0.0 impact. Arginine:glycine amidinotransferase deficiency [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000800398 CA392260916 rs1167013064 |
197 | R>S | Arginine:glycine amidinotransferase deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA314872 RCV000187600 rs796052535 RCV001857615 |
198 | S>A | Arginine:glycine amidinotransferase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1171642313 CA392260876 RCV001339562 |
200 | I>V | Arginine:glycine amidinotransferase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA7542891 RCV001562106 rs748600834 RCV000807009 RCV002501087 |
201 | K>N | Arginine:glycine amidinotransferase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000049334 rs397514709 VAR_069816 CA263244 |
203 | Y>S | Arginine:glycine amidinotransferase deficiency CCDS3; loss of glycine amidinotransferase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002354526 RCV002485268 RCV001062254 CA314888 RCV000187608 rs769023072 |
206 | R>C | Arginine:glycine amidinotransferase deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs565509522 CA7542889 RCV001323053 |
206 | R>H | Arginine:glycine amidinotransferase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
VAR_076490 rs374059924 CA7542887 RCV002517447 RCV000488899 |
208 | A>T | Variant assessed as Somatic; 0.0 impact. Arginine:glycine amidinotransferase deficiency CCDS3; loss of glycine amidinotransferase activity [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC NCI-TCGA dbSNP gnomAD |
|
RCV002477533 RCV002544787 CA392260714 RCV000687853 rs1393968087 |
209 | K>E | Arginine:glycine amidinotransferase deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA7542884 rs759012962 RCV001037322 RCV002363555 |
215 | K>R | Arginine:glycine amidinotransferase deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA16607079 RCV000438526 RCV002365574 rs1057524679 |
217 | T>A | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000557453 rs1555384217 CA392260579 |
218 | M>I | Arginine:glycine amidinotransferase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA7542882 RCV000488904 rs369580400 RCV001315182 |
219 | A>T | Arginine:glycine amidinotransferase deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA7542866 rs570670146 RCV000662158 |
229 | I>V | Arginine:glycine amidinotransferase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA314874 VAR_076491 RCV000488888 RCV000799639 rs202225656 |
231 | S>C | Arginine:glycine amidinotransferase deficiency decreases glycine amidinotransferase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA314890 RCV000689878 rs146057680 RCV002317104 RCV000488893 VAR_076492 |
234 | D>G | Arginine:glycine amidinotransferase deficiency Inborn genetic diseases decreases glycine amidinotransferase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000645720 rs764877849 CA7542862 RCV002499101 |
237 | K>R | Arginine:glycine amidinotransferase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1236954285 CA392259152 RCV000697162 CA392259155 |
242 | G>R | Arginine:glycine amidinotransferase deficiency [ClinVar] | Yes |
ClinGen TOPMed ClinVar dbSNP |
|
RCV002484148 RCV001751385 RCV001211079 CA392258899 rs1424827158 |
251 | P>L | Arginine:glycine amidinotransferase deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000187602 CA314876 rs775933965 RCV002305458 COSM1708111 |
260 | R>* | skin Arginine:glycine amidinotransferase deficiency [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP |
|
rs1889446108 RCV001317634 |
276 | L>R | Arginine:glycine amidinotransferase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA246634 rs766583032 RCV000804372 RCV000179385 COSM962247 |
282 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium Arginine:glycine amidinotransferase deficiency [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002494553 VAR_076493 CA270167214 rs371447931 RCV000488910 RCV000645719 RCV002444845 |
282 | R>H | Arginine:glycine amidinotransferase deficiency Inborn genetic diseases CCDS3; decreases glycine amidinotransferase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP TOPMed dbSNP gnomAD |
|
CA7542835 rs773358289 RCV002476418 RCV001307698 |
287 | P>S | Arginine:glycine amidinotransferase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001337722 RCV002476559 rs747005297 CA7542833 |
292 | H>R | Arginine:glycine amidinotransferase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1595482625 CA392257965 RCV001063020 |
293 | I>T | Arginine:glycine amidinotransferase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002499456 CA392257719 rs1334969328 RCV001266309 RCV001751533 |
304 | I>T | Arginine:glycine amidinotransferase deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1889444227 RCV001038965 |
305 | D>missing | Arginine:glycine amidinotransferase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002269360 CA392257605 RCV001317300 rs1460902723 |
311 | I>T | Arginine:glycine amidinotransferase deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1889443912 RCV001212944 |
314 | G>A | Arginine:glycine amidinotransferase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001046773 rs1889443760 |
316 | V>M | Arginine:glycine amidinotransferase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1889443484 RCV001228102 |
320 | P>missing | Arginine:glycine amidinotransferase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1889443535 RCV001174509 VAR_084378 |
320 | P>S | Fanconi renotubular syndrome 1 FRTS1; results in GATM protein aggregation; GATM deposits affect mitochondrial morphology leading to abnormal and elongated mitochondria [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
rs777371743 RCV000489614 RCV001856898 RCV002526016 CA7542826 |
323 | P>A | Arginine:glycine amidinotransferase deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA7542807 VAR_076494 RCV000488890 RCV003159111 rs373802463 |
329 | L>V | Arginine:glycine amidinotransferase deficiency CCDS3; decreases glycine amidinotransferase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC dbSNP gnomAD |
|
CA392256660 rs1566839535 RCV000686688 |
331 | K>Q | Arginine:glycine amidinotransferase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001070659 CA392256604 rs1156646457 |
333 | A>V | Arginine:glycine amidinotransferase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV003159183 VAR_084379 RCV001174510 rs1889422994 |
336 | T>A | Arginine:glycine amidinotransferase deficiency Fanconi renotubular syndrome 1 FRTS1; results in GATM protein aggregation; GATM deposits affect mitochondrial morphology leading to abnormal and elongated mitochondria [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
VAR_084380 RCV002305569 RCV001174511 rs1481334244 |
336 | T>I | Cerebral creatine deficiency syndrome Fanconi renotubular syndrome 1 FRTS1; results in GATM protein aggregation; GATM deposits affect mitochondrial morphology and are associated with increased ROS production, activation of the NLRP3 inflammasome and enhanced expression of the profibrotic cytokine IL-18 [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
|
rs558560751 CA7542804 RCV001305515 |
337 | I>V | Arginine:glycine amidinotransferase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001174512 VAR_084381 RCV002483940 RCV001332014 rs1889422661 RCV003159184 |
341 | P>L | Cerebral creatine deficiency syndrome Arginine:glycine amidinotransferase deficiency Fanconi renotubular syndrome 1 FRTS1; results in GATM protein aggregation; GATM deposits affect mitochondrial morphology leading to abnormal and elongated mitochondria [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
RCV000801198 rs747608698 RCV001721194 CA314859 |
344 | I>V | Arginine:glycine amidinotransferase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000488898 rs142814307 CA270166553 VAR_076495 RCV002515607 |
346 | P>L | Arginine:glycine amidinotransferase deficiency CCDS3; decreases glycine amidinotransferase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP dbSNP gnomAD |
|
CA7542802 rs755493537 RCV001347795 |
348 | D>N | Arginine:glycine amidinotransferase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001067511 rs1889406981 |
356 | K>R | Arginine:glycine amidinotransferase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA392255878 rs1479969521 RCV000806685 |
362 | V>A | Arginine:glycine amidinotransferase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA270166260 rs753968876 RCV001121789 |
363 | L>S | Arginine:glycine amidinotransferase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002491192 CA7542785 RCV000592796 RCV000645721 rs747557239 |
369 | R>H | Arginine:glycine amidinotransferase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000049331 rs397515542 |
371 | M>missing | Arginine:glycine amidinotransferase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000370693 rs886051202 CA10636072 RCV002522797 |
387 | G>R | Arginine:glycine amidinotransferase deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000810090 rs1170650328 COSM555133 CA392255072 |
388 | I>V | lung Arginine:glycine amidinotransferase deficiency [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
RCV001347166 rs1183535332 CA392254982 |
396 | R>S | Arginine:glycine amidinotransferase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1566838819 RCV000691013 |
404 | G>missing | Arginine:glycine amidinotransferase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs768171759 RCV000767985 RCV003224405 CA7542755 |
411 | D>N | Arginine:glycine amidinotransferase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1461653218 CA392254706 VAR_071789 |
413 | R>Q | CCDS3; loss of glycine amidinotransferase activity [UniProt] | Yes |
ClinGen UniProt TOPMed dbSNP |
|
RCV001779072 rs1244824806 RCV000734428 CA392254708 VAR_071790 |
413 | R>W | Arginine:glycine amidinotransferase deficiency CCDS3; loss of glycine amidinotransferase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
VAR_076496 rs374592247 COSM244665 RCV000809560 RCV002494554 CA7542752 RCV000488907 |
415 | R>Q | Arginine:glycine amidinotransferase deficiency prostate CCDS3; unknown pathological significance; reduces glycine amidinotransferase activity [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002317623 CA392254551 RCV002305534 rs1566838768 |
423 | D>E | Arginine:glycine amidinotransferase deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs753489854 CA7543024 |
2 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1595486687 CA392266754 |
2 | L>P | No |
ClinGen Ensembl |
|
|
CA270174385 rs796052538 |
3 | R>W | No |
ClinGen gnomAD |
|
|
CA392266734 rs1252937232 |
4 | V>M | No |
ClinGen TOPMed |
|
| TCGA novel | 5 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs542283154 CA270174382 |
6 | C>Y | No |
ClinGen 1000Genomes |
|
|
rs1167262337 CA392266652 |
8 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA392266654 rs1167262337 |
8 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1595486648 CA392266583 |
17 | V>G | No |
ClinGen Ensembl |
|
|
rs746749338 CA270174375 |
17 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1286036723 CA392266569 |
19 | Y>F | No |
ClinGen TOPMed |
|
|
rs1189424235 CA392266573 |
19 | Y>H | No |
ClinGen gnomAD |
|
|
CA392266557 rs1351218673 |
21 | G>A | No |
ClinGen gnomAD |
|
|
CA270174341 rs903485357 |
21 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA392266552 rs1284933524 |
22 | S>F | No |
ClinGen gnomAD |
|
|
rs1595486636 RCV000995325 CA392266555 |
22 | S>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA392266548 rs1240389133 |
23 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs766760820 CA7542999 |
24 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1198047512 CA392266057 |
25 | G>R | No |
ClinGen gnomAD |
|
|
CA270173273 rs1032267288 |
26 | R>G | No |
ClinGen gnomAD |
|
|
rs1193533349 CA392266027 |
26 | R>L | No |
ClinGen TOPMed |
|
|
rs1193533349 CA392266034 |
26 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA392266016 rs1566842744 |
27 | T>I | No |
ClinGen Ensembl |
|
|
rs1251562497 CA392265984 CA392265999 |
28 | L>F | No |
ClinGen TOPMed |
|
|
CA7542998 rs763273843 |
29 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs773473195 CA392265943 |
30 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA392265958 rs1245821498 |
30 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs773473195 CA7542997 |
30 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA7542996 rs769997368 |
32 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA392265857 rs1446187467 |
33 | Q>R | No |
ClinGen gnomAD |
|
|
CA392265838 rs1377714439 |
34 | R>* | No |
ClinGen gnomAD |
|
|
CA392265812 rs1331986925 |
35 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs776785073 CA7542994 |
36 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776785073 CA392265789 |
36 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1165037271 CA392265768 |
37 | Q>E | No |
ClinGen TOPMed |
|
|
CA392265724 rs1595485880 |
39 | T>P | No |
ClinGen Ensembl |
|
|
rs927957099 CA270173227 |
42 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA270173225 rs868522260 |
43 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs745845852 CA7542992 |
45 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA392265641 rs1595485870 |
46 | S>P | No |
ClinGen Ensembl |
|
|
CA7542991 rs749075034 |
47 | R>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA392265629 rs777639154 |
47 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs749075034 CA7542990 |
47 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1595485863 CA392265624 |
48 | N>D | No |
ClinGen Ensembl |
|
|
rs796052537 CA270173192 |
49 | S>A | No |
ClinGen Ensembl |
|
|
RCV000187605 CA314882 rs796052537 |
49 | S>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs755798173 CA7542987 |
52 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1362004619 CA392265548 |
53 | D>N | No |
ClinGen gnomAD |
|
|
CA392265513 rs1239635711 |
54 | D>G | No |
ClinGen gnomAD |
|
|
CA7542983 rs752102323 |
56 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA7542984 rs752102323 |
56 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs766850648 CA7542982 |
57 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs758827825 CA7542981 |
58 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA7542979 rs765462268 |
61 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1367178640 CA392265366 |
63 | D>G | No |
ClinGen gnomAD |
|
|
CA392265359 rs1295983824 |
64 | C>S | No |
ClinGen gnomAD |
|
|
rs1418671209 CA392265354 |
64 | C>Y | No |
ClinGen gnomAD |
|
|
CA392265344 rs1566842693 |
65 | P>A | No |
ClinGen Ensembl |
|
|
CA7542978 rs762117101 |
67 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA7542976 rs764270822 |
74 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA392265182 rs1377599591 |
74 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA392265165 rs1204057066 |
75 | L>I | No |
ClinGen gnomAD |
|
|
CA392265106 rs1333483024 |
78 | V>L | No |
ClinGen TOPMed |
|
|
rs1271816933 CA392265089 |
79 | I>L | No |
ClinGen TOPMed |
|
|
rs1466542087 CA392265083 |
79 | I>T | No |
ClinGen TOPMed |
|
|
CA7542973 rs770990709 |
80 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7542972 rs749173464 |
82 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1261342154 CA392264916 |
90 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA270173153 rs866721195 |
91 | F>S | No |
ClinGen Ensembl |
|
| TCGA novel | 94 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1339373707 CA392262330 |
100 | Y>C | No |
ClinGen gnomAD |
|
|
CA392262231 rs1462709461 |
104 | W>* | No |
ClinGen gnomAD |
|
|
rs920820508 CA270169360 |
105 | P>T | No |
ClinGen Ensembl |
|
|
rs973682377 CA270169358 |
110 | Q>R | No |
ClinGen Ensembl |
|
| TCGA novel | 111 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 112 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA392262005 rs1180365337 |
116 | P>L | No |
ClinGen gnomAD |
|
|
COSM962250 rs757696021 CA7542946 |
119 | H>N | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1446595765 CA392261943 |
121 | K>Q | No |
ClinGen gnomAD |
|
| rs1244883693 | 122 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA392261820 rs1274776213 |
130 | M>T | No |
ClinGen gnomAD |
|
|
rs752922419 CA7542942 |
131 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs767740292 CA392261794 |
132 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA7542941 rs767740292 |
132 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs748495613 CA270169286 |
137 | E>K | No |
ClinGen Ensembl |
|
|
rs761735656 CA7542938 |
139 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs776302905 CA7542937 |
140 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs1405124123 CA392261632 |
144 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1386141115 CA392261623 |
144 | P>L | No |
ClinGen gnomAD |
|
|
rs1405124123 CA392261630 |
144 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1566840842 CA392261616 |
145 | D>A | No |
ClinGen Ensembl |
|
|
CA314886 rs1555384309 |
145 | D>H | No |
ClinGen Ensembl |
|
|
rs1193258786 CA392261598 |
146 | P>L | No |
ClinGen TOPMed |
|
|
rs977391578 CA392261588 |
147 | I>N | No |
ClinGen gnomAD |
|
|
rs977391578 CA270169267 |
147 | I>T | No |
ClinGen gnomAD |
|
|
CA270169234 rs866895039 |
149 | W>* | No |
ClinGen Ensembl |
|
|
COSM555131 rs80338737 CA7542936 |
149 | W>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs771614762 CA7542934 |
156 | P>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 156 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7542933 rs771614762 |
156 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs529206733 CA7542932 |
157 | D>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 160 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 167 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1210723596 CA392261383 |
169 | R>Q | No |
ClinGen TOPMed |
|
|
RCV000187599 CA314870 rs796052534 |
173 | I>M | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA392261316 rs1278678061 |
175 | V>M | No |
ClinGen TOPMed |
|
|
rs780026471 CA7542904 |
176 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1476714481 CA392261283 |
177 | N>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 180 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1392379976 CA392261179 |
183 | P>S | No |
ClinGen gnomAD |
|
|
rs764001713 CA7542901 |
184 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs112034890 CA270168479 |
186 | W>R | No |
ClinGen Ensembl |
|
|
CA270168477 rs751757258 |
187 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs752490490 CA392261091 |
187 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA7542899 rs752490490 |
187 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs1265539013 CA392260996 |
193 | Y>C | No |
ClinGen gnomAD |
|
|
CA392260983 rs1217229880 |
194 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA392260968 rs1384096083 |
195 | A>S | No |
ClinGen gnomAD |
|
|
rs752950030 CA270168403 |
195 | A>V | No |
ClinGen gnomAD |
|
|
rs1595483270 CA392260896 |
199 | I>L | No |
ClinGen Ensembl |
|
|
rs777156720 CA7542890 |
202 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA7542885 rs778893952 |
213 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA392260624 rs1566840454 |
214 | P>S | No |
ClinGen Ensembl |
|
|
rs1385972739 CA392260615 |
215 | K>E | No |
ClinGen gnomAD |
|
|
rs752584451 CA7542883 |
218 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs111445059 CA270168241 CA7542881 |
225 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1472411493 CA392259721 |
225 | Q>R | No |
ClinGen gnomAD |
|
|
rs758138751 CA7542863 |
234 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7542860 rs754453345 |
243 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA392259105 rs1254418514 |
244 | F>L | No |
ClinGen Ensembl |
|
|
rs1388250183 CA392259007 |
248 | E>K | No |
ClinGen gnomAD |
|
|
rs1302181268 CA392258916 |
251 | P>S | No |
ClinGen gnomAD |
|
|
rs1156366447 CA392258870 |
253 | F>I | No |
ClinGen gnomAD |
|
|
rs1364915703 CA392258733 |
260 | R>Q | No |
ClinGen gnomAD |
|
|
CA392258703 rs1184570553 |
261 | A>G | No |
ClinGen gnomAD |
|
|
CA392258627 rs1174673551 |
264 | D>E | No |
ClinGen TOPMed |
|
|
CA7542856 rs759787223 |
270 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA7542855 rs774528761 |
271 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA392258321 rs1179509859 |
278 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA270167220 rs112583776 |
281 | M>V | No |
ClinGen Ensembl |
|
|
rs766583032 CA7542837 |
282 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1268066601 CA392258187 |
283 | R>K | No |
ClinGen gnomAD |
|
|
CA392258154 rs1326523381 |
284 | H>R | No |
ClinGen gnomAD |
|
|
rs1429541102 CA392258165 |
284 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 285 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7542834 rs769715877 |
289 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA270167211 rs112535272 |
290 | R>G | No |
ClinGen TOPMed |
|
|
RCV000179386 rs794727787 CA246636 |
290 | R>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA392257950 rs1216363658 |
294 | I>V | No |
ClinGen TOPMed |
|
|
CA7542831 rs199564416 |
296 | F>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7542830 rs745650207 |
302 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA7542828 rs1049491 |
310 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1037673080 CA270167189 |
315 | I>M | No |
ClinGen Ensembl |
|
|
rs1286890267 CA392257524 |
318 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA392257516 rs1242506160 |
319 | N>S | No |
ClinGen gnomAD |
|
|
rs748841641 CA270167188 |
322 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392257474 rs1325460408 |
322 | R>Q | No |
ClinGen gnomAD |
|
|
rs745742056 CA7542808 |
327 | I>V | No |
ClinGen ExAC |
|
|
CA392256695 rs1203613389 |
328 | D>E | No |
ClinGen gnomAD |
|
|
rs770808654 CA7542806 |
330 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7542805 rs749007953 CA392256598 |
334 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA392256558 rs1289761728 |
335 | W>* | No |
ClinGen TOPMed |
|
|
CA392256538 rs1481334244 |
336 | T>S | No |
ClinGen gnomAD |
|
|
CA270166554 rs878909155 |
339 | T>S | No |
ClinGen Ensembl |
|
|
rs755708471 CA7542803 |
339 | T>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 349 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 359 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1278098878 CA392255872 |
363 | L>I | No |
ClinGen gnomAD |
|
|
CA314878 rs768118194 RCV000187603 |
369 | R>C | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1319326196 CA392255671 |
371 | M>T | No |
ClinGen gnomAD |
|
|
rs1382594796 CA392255633 |
372 | V>A | No |
ClinGen TOPMed |
|
| TCGA novel | 374 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758861947 CA7542783 |
375 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758861947 CA270166231 |
375 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392255423 rs1380682430 |
382 | M>V | No |
ClinGen gnomAD |
|
|
CA7542782 rs750754626 |
383 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA314880 RCV000187604 rs796052536 |
384 | E>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA7542761 rs757608369 |
387 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392255071 rs1170650328 |
388 | I>F | No |
ClinGen gnomAD |
|
|
rs1450827920 CA392255052 |
389 | T>I | No |
ClinGen gnomAD |
|
|
rs1247172287 CA392255016 |
393 | V>I | No |
ClinGen TOPMed |
|
|
CA392254978 rs1183535332 |
396 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1357528739 CA392254974 |
396 | R>H | No |
ClinGen TOPMed |
|
|
CA7542759 rs778129102 |
397 | N>H | No |
ClinGen ExAC |
|
|
CA7542758 rs566966378 |
399 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA270165374 rs113884945 |
401 | L>P | No |
ClinGen Ensembl |
|
|
rs113884945 CA270165382 |
401 | L>Q | No |
ClinGen Ensembl |
|
|
rs752830136 CA7542757 |
403 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA270165366 rs1037788014 |
409 | T>N | No |
ClinGen Ensembl |
|
|
rs1213577036 CA392254732 |
411 | D>E | No |
ClinGen TOPMed |
|
|
rs1566838804 CA392254716 |
412 | V>A | No |
ClinGen Ensembl |
|
|
CA7542753 rs761575775 |
414 | R>C | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA392254690 rs1383052173 |
414 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1357374472 CA392254682 |
415 | R>* | No |
ClinGen gnomAD |
|
| TCGA novel | 417 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA270165339 rs1145086 |
418 | L>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA270165338 rs1145086 |
418 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760259072 CA7542751 |
419 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
2 associated diseases with P50440
[MIM: 612718]: Cerebral creatine deficiency syndrome 3 (CCDS3)
An autosomal recessive disorder characterized by developmental delay/regression, intellectual disability, severe disturbance of expressive and cognitive speech, and severe depletion of creatine/phosphocreatine in the brain. Most patients develop a myopathy characterized by muscle weakness and atrophy later in life. {ECO:0000269|PubMed:11555793, ECO:0000269|PubMed:20682460, ECO:0000269|PubMed:22386973, ECO:0000269|PubMed:23660394, ECO:0000269|PubMed:23770102, ECO:0000269|PubMed:26490222, ECO:0000269|PubMed:27233232}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 134600]: Fanconi renotubular syndrome 1 (FRTS1)
A form of Fanconi renotubular syndrome, a disease due to a generalized dysfunction of the proximal kidney tubule resulting in decreased solute and water reabsorption. Patients have polydipsia and polyuria with phosphaturia, glycosuria and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis and a tendency toward dehydration. Some eventually develop renal insufficiency. FRTS1 inheritance is autosomal dominant. {ECO:0000269|PubMed:29654216}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive disorder characterized by developmental delay/regression, intellectual disability, severe disturbance of expressive and cognitive speech, and severe depletion of creatine/phosphocreatine in the brain. Most patients develop a myopathy characterized by muscle weakness and atrophy later in life. {ECO:0000269|PubMed:11555793, ECO:0000269|PubMed:20682460, ECO:0000269|PubMed:22386973, ECO:0000269|PubMed:23660394, ECO:0000269|PubMed:23770102, ECO:0000269|PubMed:26490222, ECO:0000269|PubMed:27233232}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A form of Fanconi renotubular syndrome, a disease due to a generalized dysfunction of the proximal kidney tubule resulting in decreased solute and water reabsorption. Patients have polydipsia and polyuria with phosphaturia, glycosuria and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis and a tendency toward dehydration. Some eventually develop renal insufficiency. FRTS1 inheritance is autosomal dominant. {ECO:0000269|PubMed:29654216}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for P50440
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for P50440 | |||
Functions
| Description | ||
|---|---|---|
| EC Number | 2.1.4.1 | Amidinotransferases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
4 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. |
| 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. |
| 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. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| amidinotransferase activity | Catalysis of the reversible transfer of an amidino group to an acceptor. |
| glycine amidinotransferase activity | Catalysis of the reaction: L-arginine + glycine = L-ornithine + guanidinoacetate. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| creatine biosynthetic process | The chemical reactions and pathways resulting in the formation of creatine, N-[amino(imino)methyl]-N-methylglycine. Creatine is formed by a process beginning with amidino group transfer from L-arginine to glycine to form guanidinoacetate, followed by methyl group transfer from S-adenosyl-L-methionine to guanidinoacetate; it is then is phosphorylated to form a pool that stores high energy phosphate for the replenishment of ATP during periods of high, or fluctuating energy demand. In animals, most creatine is transported to and used in muscle. |
| creatine metabolic process | The chemical reactions and pathways involving creatine (N-(aminoiminomethyl)-N-methylglycine), a compound synthesized from the amino acids arginine, glycine, and methionine that occurs in muscle. |
| learning or memory | The acquisition and processing of information and/or the storage and retrieval of this information over time. |
| muscle atrophy | A process, occurring in the muscle, that is characterized by a decrease in protein content, fiber diameter, force production and fatigue resistance in response to different conditions such as starvation, aging and disuse. |
| positive regulation of cold-induced thermogenesis | Any process that activates or increases the frequency, rate or extent of cold-induced thermogenesis. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLRVRCLRGG | SRGAEAVHYI | GSRLGRTLTG | WVQRTFQSTQ | AATASSRNSC | AADDKATEPL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PKDCPVSSYN | EWDPLEEVIV | GRAENACVPP | FTIEVKANTY | EKYWPFYQKQ | GGHYFPKDHL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KKAVAEIEEM | CNILKTEGVT | VRRPDPIDWS | LKYKTPDFES | TGLYSAMPRD | ILIVVGNEII |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EAPMAWRSRF | FEYRAYRSII | KDYFHRGAKW | TTAPKPTMAD | ELYNQDYPIH | SVEDRHKLAA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QGKFVTTEFE | PCFDAADFIR | AGRDIFAQRS | QVTNYLGIEW | MRRHLAPDYR | VHIISFKDPN |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PMHIDATFNI | IGPGIVLSNP | DRPCHQIDLF | KKAGWTIITP | PTPIIPDDHP | LWMSSKWLSM |
| 370 | 380 | 390 | 400 | 410 | 420 |
| NVLMLDEKRV | MVDANEVPIQ | KMFEKLGITT | IKVNIRNANS | LGGGFHCWTC | DVRRRGTLQS |
| YLD |