Variant

Genome Chromosome Position VCF ID Ref Alt mRNA Change mRNA Info
GRCh37 chr14 53245142 . G A CCDS9712.1:NM_198066.3:c.442Ctg>Ttg_NP_932332.1:p.148L>L Homo sapiens glucosamine-phosphate N-acetyltransferase 1 (GNPNAT1), mRNA.
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alphafold_id: 
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PDB

Entity Residue Monomer BioUnit Ligand View
PDB Entity Uniprot Identity Evalue ExpMethod Date Name Label Auth ASA rASA SS φ ψ ASA rASA ΔASA Interaction Name Distance Atom(p) Atom(l)
2huz 1 Q96EK6 100.0 9e-138 X-RAY
 2006-08-08 LEU A:148 A:148 30.0 0.176 T -73.3 4.6 30.0 0.176 0.0 HOH
 6.866
 CD2
 O
LEU B:148 B:148 28.0 0.165 T -73.9 -0.4 28.0 0.165 0.0 HOH
 5.437
 O
 O
2o28 1 Q96EK6 100.0 9e-138 X-RAY
 2006-12-12 LEU A:148 A:148 25.0 0.147 T -79.0 12.1 25.0 0.147 0.0 HOH
 3.543
 CD2
 O
LEU B:148 B:148 20.0 0.118 T -80.4 12.5 20.0 0.118 0.0 HOH
 3.855
 CD2
 O
3cxq 1 Q96EK6 100.0 9e-138 X-RAY
 2008-09-16 LEU A:148 A:148 23.0 0.135 T -83.9 14.5 23.0 0.135 0.0 HOH
 5.974
 O
 O
3cxs 1 Q96EK6 100.0 9e-138 X-RAY
 2008-09-16 LEU A:148 A:148 18.0 0.106 T -92.7 24.5 18.0 0.106 0.0 HOH
 9.513
 O
 O
3cxp 1 Q96EK6 99.46 5e-137 X-RAY
 2008-09-16 LEU A:148 A:148 40.0 0.235 T -78.3 10.4 40.0 0.235 0.0 HOH
 3.446
 CD2
 O

AlphaFold DB

Entity Residue Monomer View
ID Entity Uniprot Identity Evalue Name Label Auth ASA rASA SS φ ψ
af-q96ek6-f1 1 Q96EK6 100.0 4e-138 LEU A:148 A:148 30.0 0.176 T -77.9 10.6