Variant

Genome Chromosome Position VCF ID Ref Alt mRNA Change mRNA Info
GRCh37 chr12 109996907 . A C CCDS9131.1:NM_052845.3:c.638tTa>tGa_NP_443077.1:p.213L>* Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblB type (MMAB), transcript variant 1, mRNA.
pdb_id: 
label_asym_id: 
label_seq_id: 
label_comp_id: 
auth_asym_id: 
auth_seq_id: 
alphafold_id: 
label_asym_id: 
label_seq_id: 
label_comp_id: 
auth_asym_id: 
auth_seq_id: 

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)
2idx 1 Q96EY8 99.49 4e-145 X-RAY
 2007-02-06 LEU A:159 A:213 0.0 0.0 H -62.8 -40.1 0.0 0.0 0.0 MG
ATP
HOH
 6.270
7.221
2.863
 O
O
O
 MG
N6
O
LEU B:159 B:213 0.0 0.0 H -67.9 -31.6 0.0 0.0 0.0 HOH
 6.806
 O
 O
LEU C:159 C:213 0.0 0.0 H -63.8 -35.9 0.0 0.0 0.0 ATP
MG
HOH
 6.960
6.566
2.794
 O
O
O
 N6
MG
O
6d5k 1 Q96EY8 99.49 4e-145 X-RAY
 2018-10-10 LEU A:159 A:213 0.0 0.0 H -65.0 -36.3 0.0 0.0 0.0 5AD
B12
EPE
 7.092
7.584
7.311
 O
O
O
 N6
N40
O3S
LEU B:159 B:213 0.0 0.0 H -62.6 -32.8 0.0 0.0 0.0 B12
5AD
SO4
 7.693
7.347
9.763
 O
O
N
 N40
N6
O1
LEU C:159 C:213 0.0 0.0 H -64.7 -38.3 0.0 0.0 0.0 ATP
MG
HOH
 7.130
6.505
5.546
 O
O
O
 N6
MG
O
6d5x 1 Q96EY8 99.49 4e-145 X-RAY
 2018-10-10 LEU A:159 A:213 0.0 0.0 H -62.5 -36.8 0.0 0.0 0.0 5AD
B12
MG
3PO
HOH
 7.323
7.579
6.365
7.619
5.274
 O
O
O
O
O
 N6
N40
MG
O1A
O
LEU B:159 B:213 0.0 0.0 H -66.5 -38.8 0.0 0.0 0.0 5AD
B12
HOH
 7.504
7.914
7.737
 O
O
O
 N6
N40
O
LEU C:159 C:213 0.0 0.0 H -67.0 -39.5 0.0 0.0 0.0 ATP
MG
HOH
 7.461
6.387
5.215
 O
O
O
 N6
MG
O
7ruv 1 Q96EY8 98.98 2e-144 X-RAY
 2021-11-24 LEU A:159 A:213 0.0 0.0 H -64.6 -36.1 0.0 0.0 0.0 B12
5AD
HOH
 7.581
7.180
4.925
 O
O
O
 N40
N6
O
LEU B:159 B:213 0.0 0.0 H -67.2 -39.0 NA NA NA
LEU C:159 C:213 0.0 0.0 H -62.0 -41.0 NA NA NA
LEU D:159 D:213 0.0 0.0 H -66.4 -42.8 NA NA NA
7rut 1 Q96EY8 98.98 2e-143 X-RAY
 2021-11-24 LEU A:159 E:213 0.0 0.0 H -68.0 -37.1 0.0 0.0 0.0 GOL
MG
K
ATP
HOH
 8.065
6.398
8.924
7.123
2.852
 O
O
O
O
O
 O2
MG
K
N6
O
LEU B:159 C:213 0.0 0.0 H -67.0 -36.2 NA NA NA
LEU C:159 F:213 0.0 0.0 H -64.9 -38.2 NA NA NA
LEU D:159 B:213 0.0 0.0 H -66.3 -37.1 NA NA NA
LEU E:159 A:213 0.0 0.0 H -67.8 -37.3 NA NA NA
LEU F:159 D:213 0.0 0.0 H -66.8 -37.6 0.0 0.0 0.0 ATP
MG
K
HOH
 7.196
6.407
8.976
3.303
 O
O
O
O
 N6
MG
K
O
7ruu 1 Q96EY8 98.98 2e-143 X-RAY
 2021-11-24 LEU A:159 A:213 0.0 0.0 H -65.2 -34.8 0.0 0.0 0.0 ACT
5AD
B12
HOH
 9.086
7.248
7.385
6.611
 N
O
O
O
 CH3
N6
N40
O
LEU B:159 B:213 0.0 0.0 H -65.0 -36.8 NA NA NA
LEU C:159 C:213 0.0 0.0 H -66.2 -37.1 NA NA NA
LEU D:159 D:213 0.0 0.0 H -67.6 -37.0 NA NA NA

AlphaFold DB

Entity Residue Monomer View
ID Entity Uniprot Identity Evalue Name Label Auth ASA rASA SS φ ψ
af-q96ey8-f1 1 Q96EY8 100.0 0.0 LEU A:213 A:213 0.0 0.0 H -63.4 -38.3