Variant

Genome Chromosome Position VCF ID Ref Alt mRNA Change mRNA Info
GRCh37 chr12 109998867 . C A CCDS9131.1:NM_052845.3:c.562Gtg>Ttg_NP_443077.1:p.188V>L 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 VAL A:134 A:188 1.0 0.006 H -58.9 -37.0 0.0 0.0 0.006 C:Q96EY8:0.006
 CL
ATP
HOH
 9.052
7.841
4.853
 CG1
O
N
 CL
N6
O
VAL B:134 B:188 2.0 0.013 H -67.5 -31.8 0.0 0.0 0.013 A:Q96EY8:0.006
 CL
HOH
 8.990
4.763
 O
N
 CL
O
VAL C:134 C:188 3.0 0.019 H -64.2 -36.7 0.0 0.0 0.019 A:Q96EY8:0.006
B:Q96EY8:0.013
 CL
ATP
HOH
 9.232
7.763
5.028
 O
O
N
 CL
N6
O
6d5k 1 Q96EY8 99.49 4e-145 X-RAY
 2018-10-10 VAL A:134 A:188 6.0 0.039 H -61.7 -38.5 0.0 0.0 0.039 B:Q96EY8:0.006
C:Q96EY8:0.032
 5AD
B12
HOH
 7.898
8.822
7.385
 O
N
CG1
 N6
O39
O
VAL B:134 B:188 3.0 0.019 H -64.4 -38.5 0.0 0.0 0.019 A:Q96EY8:0.019
 B12
5AD
HOH
 8.486
7.640
5.391
 N
O
N
 O39
N6
O
VAL C:134 C:188 2.0 0.013 H -64.1 -36.6 0.0 0.0 0.013 B:Q96EY8:0.006
 ATP
HOH
 7.720
9.189
 O
CA
 N6
O
6d5x 1 Q96EY8 99.49 4e-145 X-RAY
 2018-10-10 VAL A:134 A:188 3.0 0.019 H -64.2 -35.7 0.0 0.0 0.019 C:Q96EY8:0.019
 5AD
B12
HOH
 7.860
8.775
4.982
 O
N
N
 N6
O39
O
VAL B:134 B:188 2.0 0.013 H -67.3 -35.7 0.0 0.0 0.013 A:Q96EY8:0.006
 5AD
B12
HOH
 7.684
8.825
4.894
 O
N
N
 N6
O39
O
VAL C:134 C:188 2.0 0.013 H -67.1 -35.4 0.0 0.0 0.013 A:Q96EY8:0.006
B:Q96EY8:0.006
 ATP
HOH
 7.891
5.010
 O
N
 N6
O
7ruv 1 Q96EY8 98.98 2e-144 X-RAY
 2021-11-24 VAL A:134 A:188 2.0 0.013 H -64.5 -37.2 0.0 0.0 0.013 A:Q96EY8:0.013
 K
B12
5AD
K
K
HOH
 9.109
8.572
7.796
9.109
9.109
4.901
 O
N
O
O
O
N
 K
O39
N6
K
K
O
VAL B:134 B:188 3.0 0.019 H -63.3 -39.0 NA NA NA
VAL C:134 C:188 3.0 0.019 H -64.5 -37.3 NA NA NA
VAL D:134 D:188 2.0 0.013 H -62.9 -42.1 NA NA NA
7rut 1 Q96EY8 98.98 2e-143 X-RAY
 2021-11-24 VAL A:134 E:188 4.0 0.026 H -65.6 -34.3 0.0 0.0 0.026 F:Q96EY8:0.006
E:Q96EY8:0.026
 K
K
ATP
HOH
 7.114
9.229
7.674
4.667
 O
O
O
CG2
 K
K
N6
O
VAL B:134 C:188 3.0 0.019 H -63.2 -34.9 NA NA NA
VAL C:134 F:188 5.0 0.032 H -64.9 -34.7 NA NA NA
VAL D:134 B:188 4.0 0.026 H -65.7 -36.0 NA NA NA
VAL E:134 A:188 3.0 0.019 H -66.9 -36.3 NA NA NA
VAL F:134 D:188 2.0 0.013 H -67.7 -33.8 0.0 0.0 0.013 A:Q96EY8:0.013
 K
ATP
K
HOH
 9.170
7.711
9.234
4.861
 CA
O
CG1
CG2
 K
N6
K
O
7ruu 1 Q96EY8 98.98 2e-143 X-RAY
 2021-11-24 VAL A:134 A:188 3.0 0.019 H -63.2 -35.0 0.0 0.0 0.019 A:Q96EY8:0.019
 K
5AD
B12
K
K
HOH
 9.197
7.562
8.420
9.197
9.197
4.790
 O
O
N
O
O
N
 K
N6
O39
K
K
O
VAL B:134 B:188 3.0 0.019 H -64.2 -36.5 NA NA NA
VAL C:134 C:188 2.0 0.013 H -65.4 -38.6 NA NA NA
VAL D:134 D:188 3.0 0.019 H -62.6 -37.6 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 VAL A:188 A:188 3.0 0.019 H -63.9 -40.5