Variant

Genome Chromosome Position VCF ID Ref Alt mRNA Change mRNA Info
GRCh37 chr12 109998858 . G A CCDS9131.1:NM_052845.3:c.571Cgg>Tgg_NP_443077.1:p.191R>W 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:137 A:191 65.0 0.289 H -65.1 -37.5 2.0 0.009 0.28 C:Q96EY8:0.231
B:Q96EY8:0.098
CL
ATP
HOH
3.991
5.005
3.258
NE
N
NE
CL
N6
O
ARG B:137 B:191 59.0 0.262 H -62.8 -47.6 1.0 0.004 0.258 A:Q96EY8:0.218
C:Q96EY8:0.084
CL
HOH
4.031
2.871
NE
NE
CL
O
ARG C:137 C:191 61.0 0.271 H -68.7 -44.5 1.0 0.004 0.267 A:Q96EY8:0.098
B:Q96EY8:0.218
CL
ATP
HOH
4.246
5.021
3.176
NE
N
CD
CL
N6
O
6d5k 1 Q96EY8 99.49 4e-145 X-RAY
2018-10-10 ARG A:137 A:191 57.0 0.253 H -60.8 -41.9 2.0 0.009 0.244 B:Q96EY8:0.076
C:Q96EY8:0.209
5AD
B12
HOH
5.089
9.177
4.035
N
N
CD
N1
C47
O
ARG B:137 B:191 67.0 0.298 H -61.8 -39.1 2.0 0.009 0.289 A:Q96EY8:0.244
C:Q96EY8:0.093
B12
5AD
HOH
9.090
4.975
2.950
N
N
NE
O39
N6
O
ARG C:137 C:191 57.0 0.253 H -62.6 -42.9 1.0 0.004 0.249 A:Q96EY8:0.058
B:Q96EY8:0.222
ATP
HOH
5.015
4.006
N
CD
N1
O
6d5x 1 Q96EY8 99.49 4e-145 X-RAY
2018-10-10 ARG A:137 A:191 63.0 0.28 H -60.5 -42.7 3.0 0.013 0.267 C:Q96EY8:0.222
B:Q96EY8:0.089
5AD
B12
MG
HOH
5.024
9.176
9.801
3.678
N
N
N
N
N6
C47
MG
O
ARG B:137 B:191 63.0 0.28 H -62.0 -42.9 3.0 0.013 0.267 C:Q96EY8:0.093
A:Q96EY8:0.218
5AD
B12
HOH
4.859
9.173
3.355
N
N
CD
N6
C47
O
ARG C:137 C:191 61.0 0.271 H -61.3 -42.6 2.0 0.009 0.262 A:Q96EY8:0.084
B:Q96EY8:0.213
ATP
HOH
5.039
3.645
N
N
N6
O
7ruv 1 Q96EY8 98.98 2e-144 X-RAY
2021-11-24 ARG A:137 A:191 60.0 0.267 H -62.1 -42.8 3.0 0.013 0.254 A:Q96EY8:0.089
A:Q96EY8:0.209
K
B12
5AD
K
K
HOH
3.959
9.001
4.836
3.959
3.959
2.741
CD
N
N
CD
CD
NH2
K
O39
N1
K
K
O
ARG B:137 B:191 56.0 0.249 H -66.3 -42.6 NA NA NA
ARG C:137 C:191 58.0 0.258 H -68.7 -37.3 NA NA NA
ARG D:137 D:191 56.0 0.249 H -70.1 -38.8 NA NA NA
7rut 1 Q96EY8 98.98 2e-143 X-RAY
2021-11-24 ARG A:137 E:191 61.0 0.271 H -66.8 -44.8 2.0 0.009 0.262 F:Q96EY8:0.089
E:Q96EY8:0.218
K
K
ATP
HOH
2.923
4.054
4.972
3.439
NH2
CD
N
NH1
K
K
N6
O
ARG B:137 C:191 58.0 0.258 H -66.8 -44.1 NA NA NA
ARG C:137 F:191 58.0 0.258 H -63.3 -43.2 NA NA NA
ARG D:137 B:191 58.0 0.258 H -64.1 -44.4 NA NA NA
ARG E:137 A:191 58.0 0.258 H -64.9 -43.5 NA NA NA
ARG F:137 D:191 59.0 0.262 H -64.8 -45.7 1.0 0.004 0.258 E:Q96EY8:0.089
A:Q96EY8:0.213
K
ATP
K
HOH
3.964
4.972
4.109
2.963
CD
N
CD
NH2
K
N6
K
O
7ruu 1 Q96EY8 98.98 2e-143 X-RAY
2021-11-24 ARG A:137 A:191 59.0 0.262 H -64.6 -43.4 2.0 0.009 0.253 A:Q96EY8:0.093
A:Q96EY8:0.209
K
5AD
B12
K
K
HOH
4.012
4.828
8.882
4.012
4.012
3.028
CD
N
N
CD
CD
NH2
K
N6
O39
K
K
O
ARG B:137 B:191 57.0 0.253 H -67.3 -40.1 NA NA NA
ARG C:137 C:191 56.0 0.249 H -66.4 -43.4 NA NA NA
ARG D:137 D:191 59.0 0.262 H -63.2 -41.1 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:191 A:191 75.0 0.333 H -69.7 -45.9