Variant

Genome Chromosome Position VCF ID Ref Alt mRNA Change mRNA Info
GRCh37 chr12 109999276 . C A CCDS9131.1:NM_052845.3:c.468tgG>tgT_NP_443077.1:p.156W>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 TRP A:102 A:156 25.0 0.098 H -64.0 -41.0 25.0 0.098 0.0 SO4
HOH
 9.028
8.255
 O
C
 O4
O
TRP B:102 B:156 14.0 0.055 H -59.3 -42.3 14.0 0.055 0.0 SO4
HOH
 9.075
3.166
 O
NE1
 O3
O
TRP C:102 C:156 23.0 0.09 H -60.6 -43.8 23.0 0.09 0.0 SO4
HOH
 9.419
3.255
 O
NE1
 O4
O
6d5k 1 Q96EY8 99.49 4e-145 X-RAY
 2018-10-10 TRP A:102 A:156 22.0 0.086 H -59.5 -39.9 22.0 0.086 0.0 SO4
 9.341
 CD1
 O2
TRP B:102 B:156 27.0 0.106 H -63.0 -39.0 27.0 0.106 0.0 SO4
 9.160
 O
 O2
TRP C:102 C:156 15.0 0.059 H -60.3 -39.9 15.0 0.059 0.0 SO4
 9.785
 O
 O1
6d5x 1 Q96EY8 99.49 4e-145 X-RAY
 2018-10-10 TRP A:102 A:156 34.0 0.133 H -62.8 -40.3 34.0 0.133 0.0 SO4
HOH
 9.122
4.318
 O
CZ3
 O2
O
TRP B:102 B:156 17.0 0.067 H -62.9 -38.2 17.0 0.067 0.0 SO4
HOH
 9.198
3.077
 O
NE1
 O2
O
TRP C:102 C:156 12.0 0.047 H -62.8 -40.4 12.0 0.047 0.0 SO4
HOH
 9.843
4.712
 O
CH2
 O1
O
7ruv 1 Q96EY8 98.98 2e-144 X-RAY
 2021-11-24 TRP A:102 A:156 21.0 0.082 H -66.3 -38.8 21.0 0.082 0.0 HOH
 4.105
 NE1
 O
TRP B:102 B:156 32.0 0.125 H -59.2 -42.5 NA NA NA
TRP C:102 C:156 35.0 0.137 H -67.7 -42.5 NA NA NA
TRP D:102 D:156 32.0 0.125 H -67.1 -39.5 NA NA NA
7rut 1 Q96EY8 98.98 2e-143 X-RAY
 2021-11-24 TRP A:102 E:156 29.0 0.114 H -68.3 -44.9 29.0 0.114 0.0 HOH
 3.609
 NE1
 O
TRP B:102 C:156 29.0 0.114 H -67.5 -41.9 NA NA NA
TRP C:102 F:156 41.0 0.161 H -67.3 -43.5 NA NA NA
TRP D:102 B:156 34.0 0.133 H -69.6 -42.6 NA NA NA
TRP E:102 A:156 29.0 0.114 H -68.6 -42.2 NA NA NA
TRP F:102 D:156 26.0 0.102 H -67.6 -42.3 26.0 0.102 0.0 HOH
 2.748
 NE1
 O
7ruu 1 Q96EY8 98.98 2e-143 X-RAY
 2021-11-24 TRP A:102 A:156 34.0 0.133 H -66.1 -39.5 34.0 0.133 0.0 ACT
HOH
 3.820
3.400
 CZ3
CD1
 OXT
O
TRP B:102 B:156 23.0 0.09 H -64.1 -39.5 NA NA NA
TRP C:102 C:156 32.0 0.125 H -65.4 -39.6 NA NA NA
TRP D:102 D:156 33.0 0.129 H -64.7 -38.5 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 TRP A:156 A:156 27.0 0.106 H -70.7 -39.1