P48029
PR
Gene name |
SLC6A8 |
Protein name |
Sodium- and chloride-dependent creatine transporter 1 |
Names |
CT1, Creatine transporter 1, Solute carrier family 6 member 8 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6535 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for P48029
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P48029-F1 | Predicted | AlphaFoldDB |
372 variants for P48029
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs2091436097 RCV001202474 |
9 | G>C | Creatine transporter deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1198790754 RCV001830511 CA415075922 RCV000692670 |
9 | G>V | Creatine transporter deficiency Creatine deficiency syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000433087 CA16609138 RCV002305486 rs1057524586 |
16 | D>E | Creatine transporter deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2091436339 RCV001306071 |
17 | E>D | Creatine transporter deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000640934 rs1557043770 |
18 | K>missing | Creatine transporter deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000811457 RCV002345842 CA415076044 rs1261794545 RCV001276523 |
18 | K>N | Creatine transporter deficiency Inborn genetic diseases Creatine deficiency syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001829418 RCV002305495 rs1238996324 RCV000498276 CA415076058 |
19 | K>T | Creatine transporter deficiency Creatine deficiency syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA415076119 RCV001829583 rs1557043775 RCV000555105 |
24 | A>P | Creatine transporter deficiency Creatine deficiency syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000796965 CA415076138 RCV001830713 RCV001824372 rs1233444890 RCV001816854 VAR_075563 CA415076140 |
26 | G>R | Creatine transporter deficiency Creatine deficiency syndrome 1 no effect on creatine transporter activity [ClinVar, UniProt] | Yes |
ClinGen TOPMed gnomAD ClinVar UniProt dbSNP |
|
RCV001830746 rs782598816 CA10549150 RCV000805153 RCV002534802 |
30 | A>V | Creatine transporter deficiency Inborn genetic diseases Creatine deficiency syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs868950793 RCV000842126 CA415076214 RCV000694042 |
31 | P>L | Creatine transporter deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001248171 rs1557043804 CA415076285 RCV001830032 |
36 | G>V | Creatine transporter deficiency Creatine deficiency syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA16616458 RCV000477133 rs781997638 |
39 | G>D | Creatine transporter deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
| VAR_086684 | 41 | G>del | CCDS1; unknown pathological significance; loss of creatine transporter activity; no effect on cell membrane localization [UniProt] | Yes | UniProt |
|
rs1463935788 RCV000815145 CA415076485 |
49 | V>L | Creatine transporter deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001039816 rs2091437446 |
51 | P>L | Creatine transporter deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2091437670 RCV001323525 |
64 | S>missing | Creatine transporter deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA415076780 rs1557043854 RCV000623348 |
64 | S>P | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1557043855 RCV001262444 |
67 | G>R | Creatine transporter deficiency [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_071791 | 80 | Y>H | CCDS1 [UniProt] | Yes | UniProt |
|
RCV000012466 rs122453115 VAR_020525 RCV001508970 CA256012 |
87 | G>R | Creatine transporter deficiency CCDS1; decreased creatine transporter activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs782040427 RCV002438252 RCV000640932 CA10549177 RCV000522419 |
95 | V>I | Creatine transporter deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs80338739 RCV000623073 RCV000020635 RCV000479265 |
107 | F>missing | Creatine transporter deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_075564 | 107 | F>del | CCDS1; decreased creatine transporter activity [UniProt] | Yes | UniProt |
|
RCV001210427 rs2091449037 |
114 | Q>H | Creatine transporter deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1569539246 CA415077728 RCV000680099 |
114 | Q>K | Creatine transporter deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA256014 VAR_063707 RCV000012469 rs122453117 |
132 | G>V | Creatine transporter deficiency CCDS1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001214605 rs2091455005 |
141 | V>missing | Creatine transporter deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA415078409 RCV002327602 rs1557044413 RCV001835288 RCV001545902 RCV001247127 |
141 | V>I | Creatine transporter deficiency Inborn genetic diseases Creatine deficiency syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000807177 rs1603215013 |
153 | A>missing | Creatine transporter deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs782174461 RCV000807506 CA10549199 |
155 | G>S | Creatine transporter deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001211701 rs2091455264 |
156 | F>missing | Creatine transporter deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA415078828 rs1603215030 RCV000808848 |
166 | T>A | Creatine transporter deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001825739 rs199937648 CA10549202 RCV000868929 |
178 | T>S | Creatine transporter deficiency Creatine deficiency syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
| VAR_086685 | 181 | C>R | CCDS1; unknown pathological significance; loss of creatine transporter activity; no effect on cell membrane localization [UniProt] | Yes | UniProt |
|
RCV001088436 CA10549204 rs149024147 RCV000713356 |
182 | V>M | Creatine transporter deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000602976 rs372601430 RCV000919928 CA10549206 VAR_074262 |
186 | R>H | Creatine transporter deficiency 82.0% of wild type creatine transporter activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000520280 RCV001851485 rs1557044442 |
191 | A>missing | Creatine transporter deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001212077 CA415079256 rs1557044451 |
198 | L>I | Creatine transporter deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002316171 RCV002067020 CA891843978 rs1569539288 RCV002507256 |
204 | A>D | Creatine transporter deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs781871613 RCV001235444 |
204 | A>V | Creatine transporter deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001299395 COSM3235769 CA415079400 rs1175883803 |
207 | R>Q | Variant assessed as Somatic; impact. Creatine transporter deficiency breast [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP |
|
RCV000786917 RCV001585709 rs1603215223 |
209 | P>missing | Creatine transporter deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2091456256 RCV001264825 |
215 | E>G | Creatine transporter deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2091458828 RCV001066106 |
233 | W>* | Creatine transporter deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001330103 rs1328810626 |
236 | T>S | Creatine transporter deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002305500 rs1557044569 RCV000521174 |
250 | V>missing | Creatine transporter deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2091465921 RCV001267102 |
268 | P>H | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001528827 RCV000458335 CA10549333 rs782208622 |
274 | V>M | Creatine transporter deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000999631 rs1603216676 |
277 | V>missing | Creatine transporter deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10549337 RCV001873645 rs782802482 RCV001174606 COSM1466582 RCV001828584 |
278 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine Creatine transporter deficiency Creatine deficiency syndrome 1 [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs1603216806 RCV001221369 RCV000782097 |
315 | F>missing | Creatine transporter deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001263495 rs2091467532 |
315 | F>missing | Creatine transporter deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000713358 RCV002305533 rs1569539358 |
316 | S>missing | Creatine transporter deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1569539359 CA913183983 RCV000012465 |
317 | Y>* | Creatine transporter deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001243472 rs1603216830 |
322 | G>R | Creatine transporter deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001009546 rs1603216830 CA415084656 |
322 | G>W | Creatine transporter deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060502808 RCV000472365 |
325 | T>missing | Creatine transporter deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs782433037 RCV000255812 VAR_070563 RCV000012471 |
336 | N>missing | CCDS1; decreased creatine transporter activity; no effect on cell membrane localization Creatine transporter deficiency [UniProt, ClinVar] | Yes |
ClinVar UniProt dbSNP |
|
rs782433037 VAR_070563 |
336 | N>del | CCDS1; decreased creatine transporter activity; no effect on cell membrane localization [UniProt] | Yes |
UniProt dbSNP |
|
rs2091468099 RCV001295163 |
337 | C>R | Creatine transporter deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000012468 VAR_063708 rs122453116 CA256013 |
337 | C>W | Creatine transporter deficiency CCDS1; decreased creatine transporter activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000517073 RCV000866741 RCV001591171 rs781962672 CA10549409 |
342 | I>T | Creatine transporter deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2091469148 RCV001327062 |
343 | I>missing | Creatine transporter deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001241124 rs2091469248 |
347 | I>missing | Creatine transporter deficiency [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_075565 | 347 | I>del | CCDS1; decreased creatine transporter activity [UniProt] | Yes | UniProt |
|
RCV000705494 rs1569539381 |
369 | E>missing | Creatine transporter deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1557045159 CA415085865 RCV001047910 |
376 | K>R | Creatine transporter deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000012463 CA256011 VAR_020526 rs122453114 |
381 | G>R | Creatine transporter deficiency CCDS1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000640931 RCV002251491 CA415086073 RCV001255373 rs1557045250 |
382 | P>L | Intellectual disability Creatine transporter deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
| VAR_071792 | 383 | G>C | CCDS1 [UniProt] | Yes | UniProt |
|
RCV000499651 CA10549443 rs374163604 RCV001092998 RCV000640937 RCV001834620 RCV002323868 |
388 | A>T | Creatine transporter deficiency Inborn genetic diseases Creatine deficiency syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
| VAR_020527 | 390 | P>L | CCDS1; decreased creatine transporter activity [UniProt] | Yes | UniProt |
|
CA10549445 rs782676733 RCV001834680 RCV001300034 RCV000523929 |
391 | R>Q | Creatine transporter deficiency Creatine deficiency syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA415086241 VAR_075566 RCV000623839 rs1557045267 RCV001572173 RCV000551024 |
391 | R>W | Creatine transporter deficiency Inborn genetic diseases CCDS1; decreased creatine transporter activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1557045281 RCV000559057 CA415086319 |
395 | L>P | Creatine transporter deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1557045287 RCV001343819 CA415086399 |
399 | A>V | Creatine transporter deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA415086472 rs1557045296 RCV000626885 |
403 | A>V | Intellectual disability [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001319400 rs2091472678 |
405 | L>P | Creatine transporter deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_020528 rs80338740 RCV000483506 RCV000012464 |
408 | F>missing | Creatine transporter deficiency CCDS1 [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
VAR_020528 rs80338740 |
408 | F>del | CCDS1 [UniProt] | Yes |
UniProt dbSNP |
|
rs2091472802 RCV001253760 |
411 | L>S | Creatine transporter deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2091472899 RCV001253759 |
417 | S>R | Creatine transporter deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA415086667 RCV000689262 rs1569539415 |
420 | V>I | Creatine transporter deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000490037 RCV001851321 rs1085308011 CA415086679 |
421 | G>D | Creatine transporter deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001831104 rs2060322395 RCV001344099 |
428 | G>S | Creatine transporter deficiency Creatine deficiency syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001830943 CA10549484 RCV002539369 RCV001092999 RCV000887630 rs782551106 |
429 | L>V | Creatine transporter deficiency Inborn genetic diseases Creatine deficiency syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000331831 rs886041818 RCV002519061 |
431 | D>missing | Creatine transporter deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA415086756 RCV002314443 rs1569539421 |
433 | L>F | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2091474324 RCV001316165 |
434 | P>L | Creatine transporter deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA415086780 RCV001836299 rs1557045400 RCV001318611 |
437 | Y>S | Creatine transporter deficiency Creatine deficiency syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001551569 RCV001217348 rs1403716189 CA415086789 |
438 | Y>F | Creatine transporter deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002523925 rs781925657 RCV000993015 CA10549492 RCV000412888 RCV001835788 RCV001850987 |
440 | R>H | Creatine transporter deficiency Inborn genetic diseases Creatine deficiency syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2091474639 RCV001303905 RCV001830202 RCV001776182 |
445 | I>F | Creatine transporter deficiency Creatine deficiency syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_071793 | 448 | A>D | CCDS1 [UniProt] | Yes | UniProt |
|
rs1603217473 CA415087229 RCV000990970 |
466 | G>R | Creatine transporter deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1239466041 RCV000821021 CA415087492 |
476 | Y>* | Creatine transporter deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs2091475771 RCV001257719 |
477 | S>missing | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000703298 rs1569539443 CA415087669 |
485 | W>* | Creatine transporter deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_063709 CA256015 RCV000012470 rs122453118 |
491 | C>W | Creatine transporter deficiency CCDS1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs1557045503 RCV001213059 CA415087873 |
495 | A>T | Creatine transporter deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001027537 rs143916832 CA415087934 |
498 | Y>* | Creatine transporter deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP TOPMed dbSNP gnomAD |
| VAR_086686 | 499 | G>del | CCDS1; unknown pathological significance; loss of creatine transporter activity; no effect on cell membrane localization [UniProt] | Yes | UniProt |
|
RCV001231515 rs2091476989 |
501 | D>N | Creatine transporter deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001832149 CA10549551 RCV001310749 RCV000940946 rs782488606 |
502 | R>C | Creatine transporter deficiency Creatine deficiency syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA415088100 RCV000864786 rs1453689278 |
502 | R>H | Creatine transporter deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2091477188 RCV001063525 |
506 | D>missing | Creatine transporter deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002317819 rs201526436 CA10549557 RCV000863568 RCV000377014 RCV001815381 |
506 | D>N | Creatine transporter deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000810424 RCV001805883 CA10549558 rs782000377 RCV001276524 |
509 | C>R | Creatine transporter deficiency Creatine deficiency syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000623751 CA256009 RCV001257720 RCV000012462 rs122453113 RCV000713354 |
514 | R>* | Intellectual disability Creatine transporter deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10549563 rs782703394 RCV001089017 RCV000467430 RCV002402281 |
524 | S>T | Creatine transporter deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1557045581 RCV000503193 |
528 | P>missing | Creatine transporter deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA205226 RCV001589070 RCV000709775 rs797045971 RCV000192415 |
534 | I>T | Creatine transporter deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs782354054 COSM1756449 VAR_071794 CA10549602 |
539 | V>I | urinary_tract CCDS1 [Cosmic, UniProt] | Yes |
ClinGen cosmic curated UniProt ExAC TOPMed dbSNP gnomAD |
|
rs140601882 RCV001262629 |
542 | Y>* | Creatine transporter deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001835718 RCV000193056 CA206289 rs782028471 RCV001045442 |
543 | E>K | Creatine transporter deficiency Creatine deficiency syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs397515558 RCV000055918 CA345034 COSM1117460 |
544 | P>L | Variant assessed as Somatic; impact. endometrium Creatine transporter deficiency [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
rs782790088 RCV001835526 CA10549610 RCV001310750 RCV001523189 |
549 | N>T | Creatine transporter deficiency Creatine deficiency syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001865457 rs781807874 RCV000486770 |
549 | N>missing | Creatine transporter deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000202681 rs199635059 RCV001083541 VAR_074267 RCV002317728 CA248881 RCV000476830 |
550 | T>S | Creatine transporter deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs372567920 VAR_074268 CA337220546 |
552 | V>L | CCDS1; unknown pathological significance; 35.0% of wild type creatine transporter activity [UniProt] | Yes |
ClinGen UniProt ESP dbSNP gnomAD |
|
CA415090776 RCV000704541 rs1569539466 |
553 | Y>* | Creatine transporter deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA345036 RCV000055919 VAR_020529 rs397515559 |
554 | P>L | Creatine transporter deficiency CCDS1; decreased creatine transporter activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs145438966 RCV002314159 RCV000440955 CA10549617 VAR_063710 RCV000463742 |
560 | M>V | Creatine transporter deficiency Inborn genetic diseases no effect on creatine transporter activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000863263 rs201044530 CA10549620 VAR_074269 RCV001722623 |
564 | F>L | Creatine transporter deficiency no effect on creatine transporter activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000825023 rs1603217815 CA415090890 |
568 | S>Y | Creatine transporter deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2872524 RCV001442524 CA10549625 RCV000522229 |
572 | V>M | Creatine transporter deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2314078 RCV001835550 RCV001313930 CA10549661 |
590 | R>C | Creatine transporter deficiency Creatine deficiency syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000541130 RCV002314990 rs782560726 RCV001697309 CA10549662 |
593 | H>R | Creatine transporter deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA16616624 rs1060502811 RCV000460777 |
597 | P>L | Creatine transporter deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000688594 rs782587560 CA10549666 |
598 | I>M | Creatine transporter deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA415091106 RCV000549221 rs1557045828 |
600 | G>S | Creatine transporter deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000839954 CA415091134 RCV000707507 rs1301772452 |
604 | L>M | Creatine transporter deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1377233837 CA415091158 RCV001056518 RCV001759805 |
607 | R>* | Creatine transporter deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs146949376 RCV001704328 CA10549669 RCV002063344 VAR_074270 |
611 | A>T | Creatine transporter deficiency no effect on creatine transporter activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs782388832 CA10549671 RCV001833503 RCV000414187 |
621 | P>S | Creatine deficiency syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001828386 rs782388832 RCV000413058 CA10549672 |
621 | P>T | Creatine deficiency syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001047301 RCV001276528 rs1160275875 |
622 | V>L | Creatine transporter deficiency Creatine deficiency syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA415091270 RCV001825429 rs1181103233 RCV000713355 |
625 | S>N | Creatine deficiency syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001515364 RCV000498558 rs201637740 CA10549676 |
627 | K>Q | Creatine transporter deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000703297 rs373570632 RCV001532216 CA10549679 |
630 | V>M | Variant assessed as Somatic; 7.281e-05 impact. Creatine transporter deficiency [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1236176576 RCV000687637 RCV001829900 CA415091332 RCV001814218 |
634 | V>A | Creatine transporter deficiency Creatine deficiency syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1236176576 RCV002525211 RCV001834703 RCV000521837 CA415091333 |
634 | V>D | Creatine transporter deficiency Creatine deficiency syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA415075867 rs1486125548 CA415075868 |
4 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1190261367 CA415075865 VAR_075562 |
4 | K>R | no effect on creatine transporter activity [UniProt] | No |
ClinGen UniProt TOPMed dbSNP gnomAD |
|
rs1557043719 CA415075870 |
5 | S>G | No |
ClinGen gnomAD |
|
|
rs1557043724 CA415075876 |
5 | S>R | No |
ClinGen gnomAD |
|
|
rs1557043730 CA415075880 |
6 | A>S | No |
ClinGen gnomAD |
|
|
CA415075883 rs1257162956 |
6 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA415075888 rs1557043739 |
7 | E>* | No |
ClinGen gnomAD |
|
|
CA415075898 rs1557043749 |
7 | E>D | No |
ClinGen gnomAD |
|
|
rs1557043742 CA415075890 |
7 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 7 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1557043763 CA415076012 |
16 | D>G | No |
ClinGen gnomAD |
|
|
CA415076020 rs1557043767 |
17 | E>Q | No |
ClinGen gnomAD |
|
|
rs1603212916 RCV000996039 |
19 | K>missing | No |
ClinVar dbSNP |
|
|
CA415076080 rs1327459880 |
21 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA415076135 rs1557043779 |
25 | P>L | No |
ClinGen gnomAD |
|
|
rs1557043779 CA415076134 |
25 | P>R | No |
ClinGen gnomAD |
|
| TCGA novel | 30 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs868950793 CA415076213 |
31 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA415076216 rs868950793 |
31 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1385095471 CA415076207 |
31 | P>T | No |
ClinGen TOPMed |
|
|
CA415076233 rs1603212955 |
33 | K>Q | No |
ClinGen Ensembl |
|
|
rs781997638 CA10549153 |
39 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA415076334 rs1557043817 |
41 | G>R | No |
ClinGen gnomAD |
|
|
rs1368093500 CA415076352 |
42 | T>A | No |
ClinGen TOPMed |
|
|
CA415076364 rs1557043822 |
42 | T>I | No |
ClinGen gnomAD |
|
|
rs1185738875 CA415076369 |
43 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA415076372 rs1185738875 |
43 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA10549155 rs782388525 |
44 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA415076430 rs1557043834 |
46 | R>C | No |
ClinGen gnomAD |
|
|
CA10549156 rs781975330 |
46 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415076503 rs1557043838 |
49 | V>A | No |
ClinGen gnomAD |
|
|
rs1463935788 CA415076490 |
49 | V>M | No |
ClinGen TOPMed |
|
| TCGA novel | 53 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 55 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1557043846 CA415076633 |
57 | R>H | No |
ClinGen gnomAD |
|
|
CA415076726 rs1334661793 |
61 | F>C | No |
ClinGen TOPMed |
|
|
rs782056893 CA10549160 |
62 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs782814299 CA10549161 |
63 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA415076825 rs1557043855 |
67 | G>S | No |
ClinGen gnomAD |
|
|
rs1557043857 CA415076884 |
70 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 76 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001171650 rs2091448566 |
90 | F>missing | No |
ClinVar dbSNP |
|
|
rs1557044167 CA415077334 |
93 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
RCV001200551 rs2091448720 |
97 | I>V | No |
ClinVar dbSNP |
|
|
rs1163682579 CA415077448 |
98 | A>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 103 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782080906 CA10549181 |
109 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA10549182 rs782704042 |
111 | S>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 115 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001008204 rs1603214377 |
119 | G>missing | No |
ClinVar dbSNP |
|
|
COSM1733409 CA415077829 rs1557044185 |
119 | G>S | pancreas [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 125 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1557044188 CA415078040 |
128 | P>R | No |
ClinGen gnomAD |
|
|
rs1557044406 CA415078320 |
136 | A>T | No |
ClinGen gnomAD |
|
|
rs782360920 CA10549197 |
137 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415078387 rs1352753771 |
140 | I>L | No |
ClinGen TOPMed |
|
|
rs1557044416 CA415078444 |
142 | F>L | No |
ClinGen Ensembl |
|
|
VAR_034483 rs642454 |
164 | T>S | No |
UniProt dbSNP |
|
|
rs1479462836 CA415078832 |
166 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1557044434 CA415078958 |
175 | T>I | No |
ClinGen gnomAD |
|
|
CA415079134 rs1557044441 |
187 | H>R | No |
ClinGen gnomAD |
|
|
CA10549207 rs781794244 |
191 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1557044446 CA415079219 |
193 | A>G | No |
ClinGen gnomAD |
|
| TCGA novel | 201 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781871613 CA10549210 |
204 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10549212 rs782620409 |
206 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1414536201 CA415079447 |
211 | I>F | No |
ClinGen TOPMed |
|
|
rs781806055 CA415079459 |
211 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1159897694 CA415079456 |
211 | I>S | No |
ClinGen TOPMed |
|
| TCGA novel | 215 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781906526 CA10549230 |
223 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs782787734 CA10549232 |
227 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA10549233 rs781848986 |
228 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 232 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1328810626 CA415080081 |
236 | T>A | No |
ClinGen TOPMed |
|
|
rs782587269 CA10549235 |
237 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 241 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10549237 rs782447461 |
248 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs782287359 CA10549239 |
254 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 254 | V>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1285244690 CA415083152 |
261 | V>M | No |
ClinGen TOPMed |
|
|
rs146985734 VAR_074263 CA10549330 |
270 | V>M | no effect on creatine transporter activity [UniProt] | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP |
| TCGA novel | 272 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000507638 rs1557044958 CA415083612 |
278 | R>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1557044962 CA415083681 |
280 | V>L | No |
ClinGen gnomAD |
|
|
rs782005985 CA415083879 |
286 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10549339 VAR_074264 rs376937460 |
294 | K>Q | no effect on creatine transporter activity [UniProt] | No |
ClinGen UniProt ESP ExAC dbSNP gnomAD |
|
rs1557044980 CA415084102 |
295 | P>T | No |
ClinGen gnomAD |
|
|
CA10549340 rs782767368 |
299 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA415084272 rs1183910478 |
302 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA415084268 rs1183910478 |
302 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA10549342 rs782465938 |
304 | Q>* | No |
ClinGen ExAC |
|
|
CA16621223 rs1064794836 RCV000483324 |
304 | Q>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000996040 rs1603216798 CA415084394 |
305 | V>M | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs2091467454 RCV001092172 |
306 | W>missing | No |
ClinVar dbSNP |
|
|
rs2091467425 RCV001311412 |
306 | W>R | No |
ClinVar dbSNP |
|
|
RCV000999633 CA415084463 rs1603216804 |
310 | G>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
VAR_074265 rs144678921 CA10549367 |
314 | F>L | 65.0% of wild type creatine transporter activity [UniProt] | No |
ClinGen UniProt ESP ExAC dbSNP |
|
CA10549369 VAR_074266 rs373953317 |
318 | A>T | 78.0% of wild type creatine transporter activity [UniProt] | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA415084673 rs1211099077 |
323 | A>T | No |
ClinGen TOPMed |
|
|
rs797045972 RCV000194591 CA208846 |
325 | T>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA415084716 rs1557045053 |
326 | A>T | No |
ClinGen gnomAD |
|
|
rs1557045056 RCV000518846 CA415084749 |
327 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1603216847 CA415084798 |
329 | S>R | No |
ClinGen Ensembl |
|
|
CA10549371 rs782640954 |
332 | R>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 334 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 338 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781995279 CA10549406 |
340 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs782741852 CA10549408 |
341 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1557045133 CA415085264 |
345 | A>V | No |
ClinGen gnomAD |
|
|
CA415085269 rs1406686625 |
346 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1163771888 CA415085296 |
349 | S>G | No |
ClinGen TOPMed |
|
|
CA10549413 rs782539012 |
353 | F>L | No |
ClinGen ExAC gnomAD |
|
|
RCV000370906 rs886041471 |
358 | V>missing | No |
ClinVar dbSNP |
|
|
CA10549415 rs781834528 |
358 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 360 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 372 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1557045255 CA415086124 |
385 | A>P | No |
ClinGen gnomAD |
|
|
rs1298953188 CA415086298 |
394 | T>M | No |
ClinGen TOPMed |
|
|
rs1557045285 CA415086342 |
396 | M>I | No |
ClinGen gnomAD |
|
|
rs1557045286 CA415086376 |
398 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 400 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415086414 rs1557045293 |
400 | P>S | No |
ClinGen gnomAD |
|
|
CA10549448 rs782378041 |
401 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10549447 rs782378041 |
401 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1557045294 CA415086466 |
403 | A>S | No |
ClinGen gnomAD |
|
|
CA415086490 rs1557045299 |
404 | A>V | No |
ClinGen gnomAD |
|
|
rs1557045310 RCV000762678 CA415086536 |
406 | F>L | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA415086590 rs1557045322 |
412 | L>M | No |
ClinGen gnomAD |
|
|
CA10549450 rs782305265 |
415 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1057520594 CA16608770 RCV000418727 |
417 | S>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA415086642 rs1603217259 |
418 | Q>P | No |
ClinGen Ensembl |
|
|
rs2091473920 RCV001268200 |
421 | G>missing | No |
ClinVar dbSNP |
|
|
rs11548960 CA415086699 |
424 | G>D | No |
ClinGen Ensembl |
|
|
rs11548959 CA337219841 |
425 | F>S | No |
ClinGen Ensembl |
|
|
rs1557045380 CA415086709 |
426 | I>L | No |
ClinGen gnomAD |
|
|
CA415086729 rs782551106 |
429 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001311413 rs2091474187 |
430 | L>missing | No |
ClinVar dbSNP |
|
|
CA10549487 rs782506865 |
434 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1557045395 CA415086770 |
435 | A>V | No |
ClinGen gnomAD |
|
|
rs1557045400 CA415086781 |
437 | Y>C | No |
ClinGen gnomAD |
|
|
CA10549489 rs782604157 |
437 | Y>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 439 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10549490 rs782206415 |
439 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA10549491 rs782326194 |
440 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782414344 CA10549494 |
449 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 452 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1557045422 CA415087042 |
458 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA415087125 rs1557045424 |
464 | D>H | No |
ClinGen Ensembl |
|
| TCGA novel | 467 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415087309 rs1557045470 |
469 | V>I | No |
ClinGen gnomAD |
|
|
CA415087360 RCV000523776 rs1557045475 |
471 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000403956 CA10603708 rs886041845 |
475 | Y>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA415087474 rs1603217497 |
475 | Y>S | No |
ClinGen Ensembl |
|
|
rs1569539437 CA913191222 |
477 | S>R | No |
ClinGen Ensembl |
|
|
CA10549522 rs782055268 |
481 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA10549523 rs782808447 |
482 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA10549525 rs782521147 |
489 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs782478865 CA10549527 |
492 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1557045497 CA415087869 |
494 | V>A | No |
ClinGen TOPMed |
|
|
rs1557045536 CA415088080 |
501 | D>G | No |
ClinGen gnomAD |
|
|
rs782325571 CA10549554 |
504 | M>I | No |
ClinGen ExAC gnomAD |
|
|
TCGA novel CA10549553 rs782214069 |
504 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC gnomAD |
|
CA415088135 rs1557045552 |
504 | M>T | No |
ClinGen gnomAD |
|
|
CA10549556 rs151335200 |
505 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1218740062 CA415088194 |
506 | D>G | No |
ClinGen TOPMed |
|
|
CA415088317 rs1557045556 |
512 | G>E | No |
ClinGen gnomAD |
|
|
rs782361856 CA10549560 COSM1117459 |
514 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1603217625 CA415088367 |
515 | P>T | No |
ClinGen Ensembl |
|
| TCGA novel | 517 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1569539454 CA415088442 RCV000782066 |
518 | W>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA415088478 rs1350252807 |
520 | K>R | No |
ClinGen TOPMed |
|
|
CA415088509 rs1557045566 |
521 | W>C | No |
ClinGen gnomAD |
|
|
rs1404964544 CA415088580 |
525 | F>L | No |
ClinGen TOPMed |
|
|
RCV000522984 CA415088620 rs1557045574 |
526 | F>L | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA415088626 rs1603217639 |
527 | T>P | No |
ClinGen Ensembl |
|
|
CA415088640 rs1557045578 |
527 | T>S | No |
ClinGen gnomAD |
|
|
CA415088647 rs1557045583 |
528 | P>L | No |
ClinGen gnomAD |
|
|
rs782128391 CA10549565 |
530 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 532 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10549597 rs782582776 |
534 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10549600 rs782646163 |
537 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs782028471 CA10549606 |
543 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1557045675 CA415090685 |
546 | V>I | No |
ClinGen gnomAD |
|
|
rs373130978 CA415090717 |
548 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA415090756 rs372567920 |
552 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA gnomAD |
|
CA415090812 RCV000657772 rs1557045704 |
556 | W>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA415090817 rs1557045705 |
557 | G>S | No |
ClinGen gnomAD |
|
|
CA10549616 rs782507075 |
559 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA10549618 rs781816805 |
560 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415090850 rs1557045721 |
562 | W>R | No |
ClinGen gnomAD |
|
|
rs1557045723 COSM164437 CA415090872 |
565 | A>T | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs2872523 CA337220627 |
565 | A>V | No |
ClinGen Ensembl |
|
|
RCV000522235 rs1557045724 CA415090878 |
566 | L>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs782398727 CA10549622 |
567 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA415090894 rs1230036277 |
569 | M>V | No |
ClinGen TOPMed |
|
|
rs1379981266 CA415090902 |
570 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs781951570 CA10549626 |
573 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415090941 rs1603217840 |
576 | L>P | No |
ClinGen Ensembl |
|
|
CA415090963 rs782317227 |
580 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10549628 rs782317227 |
580 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10549630 rs782149657 |
582 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA10549631 rs782748018 |
582 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1166464054 CA415090991 |
584 | K>N | No |
ClinGen TOPMed |
|
|
rs781834204 CA10549632 |
586 | T>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 588 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415091043 rs868934708 |
590 | R>L | No |
ClinGen Ensembl |
|
|
CA337221020 rs2314079 |
592 | Q>K | No |
ClinGen Ensembl |
|
|
rs782560726 CA415091063 |
593 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415091065 rs782673093 |
593 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 600 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 601 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 605 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415091141 rs1557045839 |
605 | E>K | No |
ClinGen gnomAD |
|
|
rs1448508153 CA415091146 |
605 | E>V | No |
ClinGen TOPMed |
|
|
CA415091157 rs1377233837 |
607 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1557045843 CA415091159 |
607 | R>Q | No |
ClinGen gnomAD |
|
|
rs1557045845 CA415091179 |
610 | D>V | No |
ClinGen gnomAD |
|
|
RCV001093000 CA415091232 rs1557045853 |
618 | T>I | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA415091236 rs1393010146 |
619 | L>P | No |
ClinGen TOPMed |
|
|
CA415091242 rs1557045856 |
620 | T>I | No |
ClinGen gnomAD |
|
|
rs1557045860 CA415091252 |
622 | V>G | No |
ClinGen gnomAD |
|
|
CA415091248 rs1160275875 |
622 | V>M | No |
ClinGen TOPMed |
|
|
VAR_074271 CA10549675 rs368555229 |
624 | E>K | no effect on creatine transporter activity [UniProt] | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs1557045865 CA415091278 |
626 | S>N | No |
ClinGen gnomAD |
|
|
rs1557045871 CA415091291 |
628 | V>I | No |
ClinGen gnomAD |
|
|
VAR_075567 CA10549678 rs781899045 |
629 | V>I | no effect on creatine transporter activity [UniProt] | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
rs1557045884 CA415091325 |
633 | S>I | No |
ClinGen gnomAD |
|
|
CA337221198 rs4065272 |
636 | M>G | No |
ClinGen Ensembl |
1 associated diseases with P48029
[MIM: 300352]: Cerebral creatine deficiency syndrome 1 (CCDS1)
An X-linked disorder of creatine transport characterized by intellectual disability, severe speech delay, behavioral abnormalities, and seizures. Carrier females may show mild neuropsychologic impairment. {ECO:0000269|PubMed:11898126, ECO:0000269|PubMed:12210795, ECO:0000269|PubMed:15154114, ECO:0000269|PubMed:17101918, ECO:0000269|PubMed:17465020, ECO:0000269|PubMed:22644605, ECO:0000269|PubMed:23033978, ECO:0000269|PubMed:23660394, ECO:0000269|PubMed:24123876, ECO:0000269|PubMed:25861866}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An X-linked disorder of creatine transport characterized by intellectual disability, severe speech delay, behavioral abnormalities, and seizures. Carrier females may show mild neuropsychologic impairment. {ECO:0000269|PubMed:11898126, ECO:0000269|PubMed:12210795, ECO:0000269|PubMed:15154114, ECO:0000269|PubMed:17101918, ECO:0000269|PubMed:17465020, ECO:0000269|PubMed:22644605, ECO:0000269|PubMed:23033978, ECO:0000269|PubMed:23660394, ECO:0000269|PubMed:24123876, ECO:0000269|PubMed:25861866}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for P48029
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for P48029 | |||
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| apical plasma membrane | The region of the plasma membrane located at the apical end of the cell. |
| 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. |
| integral component of plasma membrane | The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| creatine transmembrane transporter activity | Enables the transfer of creatine from one side of a membrane to the other. Creatine is a compound synthesized from the amino acids arginine, glycine, and methionine that occurs in muscle. |
| creatine:sodium symporter activity | Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: creatine(out) + Na+(out) = creatine(in) + Na+(in). |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| 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. |
| creatine transmembrane transport | The directed movement of creatine across a membrane. |
| muscle contraction | A process in which force is generated within muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. |
| neurotransmitter transport | The directed movement of a neurotransmitter into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Neurotransmitters are any chemical substance that is capable of transmitting (or inhibiting the transmission of) a nerve impulse from a neuron to another cell. |
| nitrogen compound transport | The directed movement of nitrogen-containing compounds into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| sodium ion transmembrane transport | A process in which a sodium ion is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. |
25 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9MZ34 | SLC6A6 | Sodium- and chloride-dependent taurine transporter | Bos taurus (Bovine) | PR |
| O18875 | SLC6A8 | Sodium- and chloride-dependent creatine transporter 1 | Bos taurus (Bovine) | PR |
| Q9W4C5 | NAAT1 | Sodium-dependent nutrient amino acid transporter 1 | Drosophila melanogaster (Fruit fly) | PR |
| Q9Y345 | SLC6A5 | Sodium- and chloride-dependent glycine transporter 2 | Homo sapiens (Human) | PR |
| Q9UN76 | SLC6A14 | Sodium- and chloride-dependent neutral and basic amino acid transporter B(0+) | Homo sapiens (Human) | PR |
| P30531 | SLC6A1 | Sodium- and chloride-dependent GABA transporter 1 | Homo sapiens (Human) | PR |
| Q9NSD5 | SLC6A13 | Sodium- and chloride-dependent GABA transporter 2 | Homo sapiens (Human) | PR |
| P48066 | SLC6A11 | Sodium- and chloride-dependent GABA transporter 3 | Homo sapiens (Human) | PR |
| P31641 | SLC6A6 | Sodium- and chloride-dependent taurine transporter | Homo sapiens (Human) | PR |
| Q9H2J7 | SLC6A15 | Sodium-dependent neutral amino acid transporter B(0)AT2 | Homo sapiens (Human) | PR |
| Q9H1V8 | SLC6A17 | Sodium-dependent neutral amino acid transporter SLC6A17 | Homo sapiens (Human) | PR |
| Q9GZN6 | SLC6A16 | Orphan sodium- and chloride-dependent neurotransmitter transporter NTT5 | Homo sapiens (Human) | PR |
| P23975 | SLC6A2 | Sodium-dependent noradrenaline transporter | Homo sapiens (Human) | PR |
| O35316 | Slc6a6 | Sodium- and chloride-dependent taurine transporter | Mus musculus (Mouse) | PR |
| P31650 | Slc6a11 | Sodium- and chloride-dependent GABA transporter 3 | Mus musculus (Mouse) | PR |
| P31648 | Slc6a1 | Sodium- and chloride-dependent GABA transporter 1 | Mus musculus (Mouse) | PR |
| Q9JMA9 | Slc6a14 | Sodium- and chloride-dependent neutral and basic amino acid transporter B(0+) | Mus musculus (Mouse) | PR |
| Q761V0 | Slc6a5 | Sodium- and chloride-dependent glycine transporter 2 | Mus musculus (Mouse) | PR |
| P31649 | Slc6a13 | Sodium- and chloride-dependent GABA transporter 2 | Mus musculus (Mouse) | PR |
| Q8VBW1 | Slc6a8 | Sodium- and chloride-dependent creatine transporter 1 | Mus musculus (Mouse) | PR |
| P31647 | Slc6a11 | Sodium- and chloride-dependent GABA transporter 3 | Rattus norvegicus (Rat) | PR |
| P23978 | Slc6a1 | Sodium- and chloride-dependent GABA transporter 1 | Rattus norvegicus (Rat) | PR |
| P28570 | Slc6a8 | Sodium- and chloride-dependent creatine transporter 1 | Rattus norvegicus (Rat) | PR |
| O76689 | snf-6 | Sodium-dependent acetylcholine transporter | Caenorhabditis elegans | PR |
| G5EBN9 | snf-3 | Sodium- and chloride-dependent betaine transporter | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAKKSAENGI | YSVSGDEKKG | PLIAPGPDGA | PAKGDGPVGL | GTPGGRLAVP | PRETWTRQMD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FIMSCVGFAV | GLGNVWRFPY | LCYKNGGGVF | LIPYVLIALV | GGIPIFFLEI | SLGQFMKAGS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| INVWNICPLF | KGLGYASMVI | VFYCNTYYIM | VLAWGFYYLV | KSFTTTLPWA | TCGHTWNTPD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| CVEIFRHEDC | ANASLANLTC | DQLADRRSPV | IEFWENKVLR | LSGGLEVPGA | LNWEVTLCLL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ACWVLVYFCV | WKGVKSTGKI | VYFTATFPYV | VLVVLLVRGV | LLPGALDGII | YYLKPDWSKL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GSPQVWIDAG | TQIFFSYAIG | LGALTALGSY | NRFNNNCYKD | AIILALINSG | TSFFAGFVVF |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SILGFMAAEQ | GVHISKVAES | GPGLAFIAYP | RAVTLMPVAP | LWAALFFFML | LLLGLDSQFV |
| 430 | 440 | 450 | 460 | 470 | 480 |
| GVEGFITGLL | DLLPASYYFR | FQREISVALC | CALCFVIDLS | MVTDGGMYVF | QLFDYYSASG |
| 490 | 500 | 510 | 520 | 530 | 540 |
| TTLLWQAFWE | CVVVAWVYGA | DRFMDDIACM | IGYRPCPWMK | WCWSFFTPLV | CMGIFIFNVV |
| 550 | 560 | 570 | 580 | 590 | 600 |
| YYEPLVYNNT | YVYPWWGEAM | GWAFALSSML | CVPLHLLGCL | LRAKGTMAER | WQHLTQPIWG |
| 610 | 620 | 630 | |||
| LHHLEYRAQD | ADVRGLTTLT | PVSESSKVVV | VESVM |