| Type | Description |
|---|---|
| Definition | aminomethyltransferase |
| Date | Results | Publications |
|---|---|---|
| 2017-12-09 11:58:00 | The position and frequency of the breakpoint for CNVs correlated with intron size and presence of Alu elements. Missense mutations, most often recurring, were the most common type of disease-causing mutation in AMT | 27362913 |
| 2015-08-29 11:27:00 | Data indicate no mutation was found in glycine cleavage system protein-H (GCSH) and suggest that mutations in both glycine decarboxylase (GLDC) and aminomethyltransferase (AMT) are the main cause of glycine encephalopathy in Malaysian population. | 25231368 |
| 2012-11-24 10:39:00 | Two unique non-synonymous changes were identified in the AMT gene in patients with neural tube defects. | 22171071 |
| 2010-12-05 22:09:00 | Observational study of gene-disease association. (HuGE Navigator) | 20877624 |
| 2010-09-15 22:07:00 | Observational study of gene-disease association. (HuGE Navigator) | 19913121 |
| Type | IDs |
|---|---|
| Synonymous | GCE, GCST, GCVT, NKH |
| Gene |
UniProtKB-ID:
GCST_HUMAN,
A0A024R2U7_HUMAN
UniprotKB:
P48728,
A0A024R2U7
UniParc:
UPI00015E08A6,
UPI00017A72F7,
UPI0000209CEA,
UPI000012B35E
EMBL:
AK290600,
AK296177,
D13811,
AK293481,
BC007546,
CH471055,
D14686,
AC104452
Ensembl:
ENSG00000145020
KO:
hsa:275
|
| Nucleutide sequences |
EMBL-CDS:
BAG56972.1,
AAH07546.2,
EAW64984.1,
BAF83289.1,
BAA03512.1,
BAA02967.1,
BAG58912.1,
EAW64986.1
Gene_ORFName:
hCG_2001997
Ensembl_TRS:
ENST00000636522,
ENST00000458307,
ENST00000395338,
ENST00000273588
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000378747,
ENSP00000273588,
ENSP00000489758,
ENSP00000415619
RefSeq:
NP_001158182.1,
NP_000472.2,
NP_001158183.1,
NP_001158184.1
|
| Others |
UniRef100:
UniRef100_P48728
UniRef90:
UniRef90_P48728
UniRef50:
UniRef50_P48728
UniGene:
Hs.102
CCDS:
CCDS2797.1,
CCDS54585.1,
CCDS54584.1,
CCDS54583.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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