| Type | Description |
|---|---|
| Definition | asparagine synthetase (glutamine-hydrolyzing) |
| Date | Results | Publications |
|---|---|---|
| 2021-04-17 13:37:00 | A novel compound heterozygous missense mutation in ASNS broadens the spectrum of asparagine synthetase deficiency. | 32255274 |
| 2021-04-03 13:35:00 | Association of aberrant ASNS imprinting with asparaginase sensitivity and chromosomal abnormality in childhood BCP-ALL. | 32573712 |
| 2019-08-31 13:33:00 | Four novel ASNS variants causing asparagine synthetase deficiency in 14 families have been described. | 29405484 |
| 2019-06-22 10:17:00 | ASNS deficiency should be suspected in any neonate with microcephaly and epileptic encephalopathy. | 30978478 |
| 2019-02-09 12:52:00 | Study results in two siblings suggest that the Arg49Gln variant affects the enzymatic function of ASNS. The clinical, cellular, and molecular observations from these siblings expand the known phenotypic spectrum of asparagine synthetase deficiency. | 29279279 |
| Type | IDs |
|---|---|
| Synonymous | ASNSD, TS11 |
| Gene |
UniProtKB-ID:
ASNS_HUMAN
UniprotKB:
P08243
UniParc:
UPI0000481053,
UPI0000169F55,
UPI0000579F2A
EMBL:
AC005326,
L35936,
CH236949,
L35945,
CH471091,
M27054,
AC079781,
BC014621,
L35942,
M27396,
AK302189,
L35946,
BC008723,
L35940,
M15798,
L35937,
L35941,
L35938,
L35943,
L35939,
L35944,
AK316224,
BT007113
Ensembl:
ENSG00000070669
KO:
hsa:440
|
| Nucleutide sequences |
EMBL-CDS:
AAH08723.1,
AAA36781.1,
BAG63553.1,
EAW76730.1,
BAH14595.1,
AAA52756.1,
EAW76733.1,
AAA63266.1,
EAL24115.1,
AAQ96856.1,
EAW76723.1,
EAW76731.1,
AAP35777.1,
AAH14621.1,
AAA51789.1,
EAW76732.1
Ensembl_TRS:
ENST00000437628,
ENST00000394309,
ENST00000455086,
ENST00000444334,
ENST00000394308,
ENST00000422745,
ENST00000175506
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000408472,
ENSP00000406994,
ENSP00000175506,
ENSP00000414901,
ENSP00000377845,
ENSP00000377846,
ENSP00000414379
RefSeq:
NP_001171546.1,
NP_001664.3,
NP_899199.2,
NP_001171548.1,
NP_597680.2,
NP_001339425.1,
NP_001171547.1
|
| Others |
UniRef100:
UniRef100_P08243
UniRef90:
UniRef90_P08243
UniRef50:
UniRef50_P08243
UniGene:
Hs.489207
CCDS:
CCDS55132.1,
CCDS5652.1,
CCDS55131.1
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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