Variant

Genome Chromosome Position VCF ID Ref Alt mRNA Change mRNA Info
GRCh37 chr12 109998852 . C A CCDS9131.1:NM_052845.3:c.577Gag>Tag_NP_443077.1:p.193E>* 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 GLU A:139 A:193 35.0 0.184 H -56.7 -54.7 8.0 0.042 0.142 C:Q96EY8:0.142
 MG
MG
ATP
HOH
 4.544
9.279
3.181
2.673
 OE2
OE2
OE2
OE2
 MG
MG
N6
O
GLU B:139 B:193 29.0 0.153 H -48.9 -52.2 29.0 0.153 0.0 HOH
 4.957
 OE1
 O
GLU C:139 C:193 40.0 0.211 H -63.0 -44.2 6.0 0.032 0.179 B:Q96EY8:0.179
 MG
ATP
MG
HOH
 9.302
3.045
4.658
2.582
 OE1
OE1
OE1
OE2
 MG
N6
MG
O
6d5k 1 Q96EY8 99.49 4e-145 X-RAY
 2018-10-10 GLU A:139 A:193 39.0 0.205 H -62.0 -42.0 7.0 0.037 0.168 C:Q96EY8:0.168
 5AD
B12
EPE
HOH
 3.224
7.622
5.497
8.712
 OE1
OE1
OE1
OE2
 N6
N40
O2S
O
GLU B:139 B:193 40.0 0.211 H -54.4 -39.4 40.0 0.211 0.0 B12
5AD
SO4
HOH
 7.618
3.341
8.534
8.404
 OE1
OE1
OE2
N
 N40
N6
O1
O
GLU C:139 C:193 39.0 0.205 H -60.5 -42.8 6.0 0.032 0.173 B:Q96EY8:0.174
 ATP
MG
MG
HOH
 3.095
9.763
4.493
2.896
 OE1
OE1
OE1
OE1
 N6
MG
MG
O
6d5x 1 Q96EY8 99.49 4e-145 X-RAY
 2018-10-10 GLU A:139 A:193 38.0 0.2 H -61.8 -41.8 9.0 0.047 0.153 C:Q96EY8:0.153
 5AD
B12
MG
3PO
HOH
 3.074
7.794
4.465
4.913
2.834
 OE1
OE1
OE1
OE2
OE1
 N6
N40
MG
O2B
O
GLU B:139 B:193 33.0 0.174 H -59.1 -44.4 33.0 0.174 0.0 5AD
B12
HOH
 3.327
7.626
7.774
 OE1
OE1
OE1
 N6
N40
O
GLU C:139 C:193 37.0 0.195 H -58.8 -44.8 6.0 0.032 0.163 B:Q96EY8:0.163
 ATP
MG
MG
HOH
 3.123
9.708
4.605
2.723
 OE1
OE1
OE1
OE1
 N6
MG
MG
O
7ruv 1 Q96EY8 98.98 2e-144 X-RAY
 2021-11-24 LYS A:139 A:193 51.0 0.255 H -60.4 -40.7 51.0 0.255 0.0 5AD
HOH
 3.560
3.577
 CD
CD
 N6
O
LYS B:139 B:193 67.0 0.335 H -65.3 -42.7 NA NA NA
LYS C:139 C:193 57.0 0.285 H -58.7 -43.6 NA NA NA
LYS D:139 D:193 69.0 0.345 H -57.5 -43.4 NA NA NA
7rut 1 Q96EY8 98.98 2e-143 X-RAY
 2021-11-24 GLU A:139 E:193 43.0 0.226 H -56.7 -44.1 12.0 0.063 0.163 E:Q96EY8:0.163
 K
GOL
MG
K
ATP
HOH
 8.392
8.153
4.571
8.442
3.017
2.727
 N
OE1
OE1
OE1
OE1
OE1
 K
O2
MG
K
N6
O
GLU B:139 C:193 43.0 0.226 H -60.1 -42.4 NA NA NA
GLU C:139 F:193 42.0 0.221 H -57.7 -43.3 NA NA NA
GLU D:139 B:193 44.0 0.232 H -58.2 -44.7 NA NA NA
GLU E:139 A:193 42.0 0.221 H -57.7 -45.8 NA NA NA
GLU F:139 D:193 43.0 0.226 H -59.4 -43.5 11.0 0.058 0.168 A:Q96EY8:0.168
 ATP
MG
K
HOH
 3.080
4.677
8.568
2.579
 OE1
OE1
OE1
OE1
 N6
MG
K
O
7ruu 1 Q96EY8 98.98 2e-143 X-RAY
 2021-11-24 GLU A:139 A:193 39.0 0.205 H -58.4 -43.2 39.0 0.205 0.0 5AD
B12
HOH
 3.078
7.812
4.586
 OE1
OE1
OE1
 N6
N40
O
GLU B:139 B:193 40.0 0.211 H -60.8 -36.1 NA NA NA
GLU C:139 C:193 39.0 0.205 H -60.1 -42.3 NA NA NA
GLU D:139 D:193 41.0 0.216 H -61.3 -40.0 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 GLU A:193 A:193 30.0 0.158 H -51.9 -47.8