| Type | Description |
|---|---|
| Definition | glucosidase alpha, acid |
| Date | Results | Publications |
|---|---|---|
| 2021-03-06 13:26:00 | Identification of two novel variants in GAA underlying infantile-onset Pompe disease in two Pakistani families. | 32049654 |
| 2021-01-23 13:02:00 | Identification of Undetected Monogenic Cardiovascular Disorders. | 32792077 |
| 2021-01-23 12:56:00 | Mutations in GAA Gene in Tunisian Families with Infantile Onset Pompe Disease: Novel Mutation and Structural Modeling Investigations. | 32125626 |
| 2020-07-18 10:33:00 | Missense mutations in the catalytic domain of GAA protein is associated with Pompe disease. | 30281819 |
| 2020-03-14 11:33:00 | Through blind predictions of residual enzymatic activity in human acid alpha-glucosidase (GAA) mutants, data demonstrate that gene-specific features can provide clues for investigating origin of variant pathogenicity, particularly for variants that are poorly predicted by existing methods. | 31228295 |
| Type | IDs |
|---|---|
| Synonymous | LYAG |
| Gene |
UniProtKB-ID:
LYAG_HUMAN
UniprotKB:
P10253
UniParc:
UPI00000744FF
EMBL:
X55092,
DQ907243,
X55087,
X55095,
BC040431,
X55080,
X55082,
X55097,
X55084,
X55086,
X55094,
X55093,
AC087741,
X55096,
X55098,
X55081,
X55090,
M34424,
X55088,
X55083,
X55091,
X55089,
Y00839,
S76893,
X55085
Ensembl:
ENSG00000171298
KO:
hsa:2548
|
| Nucleutide sequences |
EMBL-CDS:
CAA68763.1,
AAH40431.1,
CAC12967.1,
ABI53718.1,
AAA52506.1,
AAB33842.1,
CAA68764.1
Ensembl_TRS:
ENST00000302262,
ENST00000390015
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000305692,
ENSP00000374665
RefSeq:
XP_005257250.1,
NP_001073272.1,
NP_001073271.1,
NP_000143.2,
XP_005257251.1
|
| Others |
UniRef100:
UniRef100_P10253
UniRef90:
UniRef90_P10253
UniRef50:
UniRef50_P10253
UniGene:
Hs.1437
CCDS:
CCDS32760.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| 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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