Variant

Genome Chromosome Position VCF ID Ref Alt mRNA Change mRNA Info
GRCh37 chr12 109998872 . C A CCDS9131.1:NM_052845.3:c.557cGg>cTg_NP_443077.1:p.186R>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 ARG A:132 A:186 58.0 0.258 H -56.8 -48.4 45.0 0.2 0.058 C:Q96EY8:0.058
 MG
MG
ATP
HOH
 6.264
5.858
5.440
2.799
 NH1
NH1
NH1
NH2
 MG
MG
O2A
O
ARG B:132 B:186 57.0 0.253 H -59.4 -44.3 56.0 0.249 0.004 A:Q96EY8:0.004
 HOH
 2.499
 NH1
 O
ARG C:132 C:186 58.0 0.258 H -57.0 -42.4 44.0 0.196 0.062 B:Q96EY8:0.062
 MG
ATP
MG
HOH
 5.566
5.690
6.824
3.187
 NH1
NH1
NH1
NE
 MG
O2A
MG
O
6d5k 1 Q96EY8 99.49 4e-145 X-RAY
 2018-10-10 ARG A:132 A:186 63.0 0.28 H -57.2 -51.4 31.0 0.138 0.142 C:Q96EY8:0.142
 5AD
B12
EPE
 7.421
2.859
9.163
 O
NE
NE
 N6
O39
O1S
ARG B:132 B:186 56.0 0.249 H -66.2 -42.0 27.0 0.12 0.129 A:Q96EY8:0.129
 B12
5AD
HOH
 2.880
7.189
7.132
 CD
O
O
 O39
N6
O
ARG C:132 C:186 65.0 0.289 H -56.1 -48.0 44.0 0.196 0.093 B:Q96EY8:0.093
 ATP
MG
MG
HOH
 5.309
5.423
6.704
3.117
 NH2
NH2
NH2
NH2
 O1A
MG
MG
O
6d5x 1 Q96EY8 99.49 4e-145 X-RAY
 2018-10-10 ARG A:132 A:186 53.0 0.236 H -60.9 -44.5 23.0 0.102 0.134 C:Q96EY8:0.133
 5AD
B12
MG
3PO
HOH
 7.372
2.880
8.722
7.732
5.337
 O
NH2
CG
NH2
O
 N6
O39
MG
O1G
O
ARG B:132 B:186 53.0 0.236 H -62.6 -39.8 25.0 0.111 0.125 A:Q96EY8:0.124
 5AD
B12
HOH
 7.027
3.002
4.642
 O
CD
NH1
 N6
O39
O
ARG C:132 C:186 63.0 0.28 H -62.5 -39.1 43.0 0.191 0.089 B:Q96EY8:0.089
 ATP
MG
MG
HOH
 5.597
5.845
6.686
2.916
 NH2
NH2
NH2
NH2
 O5'
MG
MG
O
7ruv 1 Q96EY8 98.98 2e-144 X-RAY
 2021-11-24 ARG A:132 A:186 51.0 0.227 H -60.3 -48.7 22.0 0.098 0.129 A:Q96EY8:0.129
 B12
5AD
HOH
 2.801
7.366
4.708
 NH2
O
NH2
 O39
N6
O
ARG B:132 B:186 54.0 0.24 H -63.7 -44.9 NA NA NA
ARG C:132 C:186 52.0 0.231 H -59.5 -46.9 NA NA NA
ARG D:132 D:186 48.0 0.213 H -58.7 -50.9 NA NA NA
7rut 1 Q96EY8 98.98 2e-143 X-RAY
 2021-11-24 ARG A:132 E:186 59.0 0.262 H -57.8 -44.8 30.0 0.133 0.129 E:Q96EY8:0.129
 GOL
MG
K
ATP
HOH
 4.588
8.914
9.118
7.243
2.845
 CD
CG
CD
O
NH1
 O2
MG
K
N6
O
ARG B:132 C:186 61.0 0.271 H -58.3 -44.6 NA NA NA
ARG C:132 F:186 60.0 0.267 H -57.2 -46.8 NA NA NA
ARG D:132 B:186 59.0 0.262 H -56.8 -46.9 NA NA NA
ARG E:132 A:186 63.0 0.28 H -56.7 -47.0 NA NA NA
ARG F:132 D:186 61.0 0.271 H -58.2 -46.8 30.0 0.133 0.138 A:Q96EY8:0.138
 MG
ATP
MG
K
HOH
 7.183
7.285
8.819
9.049
3.091
 CD
O
CG
CD
NH1
 MG
N6
MG
K
O
7ruu 1 Q96EY8 98.98 2e-143 X-RAY
 2021-11-24 ARG A:132 A:186 62.0 0.276 H -58.2 -47.1 28.0 0.124 0.152 A:Q96EY8:0.151
 5AD
B12
HOH
 7.262
3.003
4.131
 O
NH2
NH1
 N6
O39
O
ARG B:132 B:186 62.0 0.276 H -56.8 -47.6 NA NA NA
ARG C:132 C:186 63.0 0.28 H -57.9 -46.7 NA NA NA
ARG D:132 D:186 63.0 0.28 H -60.0 -45.3 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 ARG A:186 A:186 58.0 0.258 H -57.2 -41.7