Variant

Genome Chromosome Position VCF ID Ref Alt mRNA Change mRNA Info
GRCh37 chr12 109998861 . G A CCDS9131.1:NM_052845.3:c.568Cgc>Tgc_NP_443077.1:p.190R>C 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:136 A:190 100.0 0.444 H -64.7 -32.9 78.0 0.347 0.097 C:Q96EY8:0.098
CL
MG
MG
ATP
HOH
9.834
4.173
5.743
2.787
3.174
C
NH1
NH1
NH2
NE
CL
MG
MG
C4
O
ARG B:136 B:190 117.0 0.52 H -56.2 -36.0 86.0 0.382 0.138 A:Q96EY8:0.138
CL
HOH
9.767
2.419
C
NH2
CL
O
ARG C:136 C:190 100.0 0.444 H -71.8 -27.6 83.0 0.369 0.075 B:Q96EY8:0.076
CL
MG
ATP
MG
HOH
9.978
5.705
2.957
4.238
2.564
C
NH1
NH1
NH1
NH2
CL
MG
O2A
MG
O
6d5k 1 Q96EY8 99.49 4e-145 X-RAY
2018-10-10 ARG A:136 A:190 109.0 0.484 H -66.8 -32.4 95.0 0.422 0.062 C:Q96EY8:0.062
5AD
B12
EPE
HOH
3.079
3.243
3.861
9.904
NH2
NH1
NH2
C
O4'
C38
O2S
O
ARG B:136 B:190 114.0 0.507 H -63.7 -39.0 99.0 0.44 0.067 A:Q96EY8:0.067
B12
5AD
HOH
3.510
2.866
5.503
NH1
NH2
C
C38
O4'
O
ARG C:136 C:190 97.0 0.431 H -67.8 -32.1 80.0 0.356 0.075 B:Q96EY8:0.076
ATP
MG
MG
HOH
2.935
6.208
4.294
3.620
NH2
NH1
NH1
NH1
C4
MG
MG
O
6d5x 1 Q96EY8 99.49 4e-145 X-RAY
2018-10-10 ARG A:136 A:190 106.0 0.471 H -67.7 -34.5 95.0 0.422 0.049 C:Q96EY8:0.049
5AD
B12
MG
3PO
HOH
3.044
3.286
3.857
2.996
3.535
NH2
NH1
NH1
NH2
NH1
O4'
C38
MG
O1G
O
ARG B:136 B:190 115.0 0.511 H -69.1 -34.2 105.0 0.467 0.044 A:Q96EY8:0.044
5AD
B12
HOH
3.056
3.640
2.855
O
NH1
NE
N6
C38
O
ARG C:136 C:190 99.0 0.44 H -69.5 -35.4 83.0 0.369 0.071 B:Q96EY8:0.071
ATP
MG
MG
HOH
3.059
6.241
4.016
2.761
NH2
NH1
NH1
NH2
O4'
MG
MG
O
7ruv 1 Q96EY8 98.98 2e-144 X-RAY
2021-11-24 ARG A:136 A:190 122.0 0.542 H -69.6 -35.0 109.0 0.484 0.058 A:Q96EY8:0.058
K
B12
5AD
K
K
HOH
9.907
3.307
2.914
9.907
9.907
2.788
C
NH1
NH2
C
C
NE
K
C38
O4'
K
K
O
ARG B:136 B:190 115.0 0.511 H -69.6 -32.8 NA NA NA
ARG C:136 C:190 121.0 0.538 H -70.6 -32.0 NA NA NA
ARG D:136 D:190 109.0 0.484 H -67.4 -30.2 NA NA NA
7rut 1 Q96EY8 98.98 2e-143 X-RAY
2021-11-24 CYS A:136 E:190 35.0 0.259 H -60.7 -36.1 30.0 0.222 0.037 E:Q96EY8:0.037
K
K
GOL
MG
K
ATP
HOH
8.339
9.972
5.794
6.351
8.688
3.053
3.458
C
C
SG
SG
SG
O
CB
K
K
O2
MG
K
N6
O
CYS B:136 C:190 38.0 0.281 H -60.9 -36.5 NA NA NA
CYS C:136 F:190 36.0 0.267 H -60.3 -37.2 NA NA NA
CYS D:136 B:190 37.0 0.274 H -60.7 -38.3 NA NA NA
CYS E:136 A:190 37.0 0.274 H -59.7 -37.3 NA NA NA
CYS F:136 D:190 37.0 0.274 H -61.3 -36.6 33.0 0.244 0.03 A:Q96EY8:0.03
MG
K
ATP
MG
K
K
HOH
8.169
9.143
3.068
6.277
8.616
9.954
3.417
SG
C
O
SG
SG
C
CB
MG
K
N6
MG
K
K
O
7ruu 1 Q96EY8 98.98 2e-143 X-RAY
2021-11-24 CYS A:136 A:190 40.0 0.296 H -61.6 -37.7 34.0 0.252 0.044 A:Q96EY8:0.044
K
5AD
B12
K
K
HOH
9.912
2.931
4.205
9.912
9.912
2.522
C
O
SG
C
C
SG
K
N6
O39
K
K
O
CYS B:136 B:190 37.0 0.274 H -62.0 -33.0 NA NA NA
CYS C:136 C:190 40.0 0.296 H -61.3 -34.6 NA NA NA
CYS D:136 D:190 38.0 0.281 H -62.3 -37.4 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:190 A:190 108.0 0.48 H -64.4 -28.8