Variant

Genome Chromosome Position VCF ID Ref Alt mRNA Change mRNA Info
GRCh37 chr12 109999282 . C A CCDS9131.1:NM_052845.3:c.462gaG>gaT_NP_443077.1:p.154E>D 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:100 A:154 69.0 0.363 H -59.7 -40.3 10.0 0.053 0.31 C:Q96EY8:0.311
 ATP
HOH
 9.071
3.618
 OE2
CG
 O1G
O
GLU B:100 B:154 61.0 0.321 H -66.8 -36.7 61.0 0.321 0.0 HOH
 2.616
 O
 O
GLU C:100 C:154 65.0 0.342 H -68.1 -38.8 23.0 0.121 0.221 B:Q96EY8:0.221
 ATP
HOH
 9.346
2.637
 OE2
OE2
 O1G
O
6d5k 1 Q96EY8 99.49 4e-145 X-RAY
 2018-10-10 GLU A:100 A:154 64.0 0.337 H -56.6 -45.1 64.0 0.337 0.0 HOH
 7.451
 OE2
 O
GLU B:100 B:154 63.0 0.332 H -66.1 -39.5 63.0 0.332 0.0 SO4
 5.168
 OE2
 O3
GLU C:100 C:154 68.0 0.358 H -58.0 -47.7 24.0 0.126 0.232 B:Q96EY8:0.232
 ATP
 9.254
 OE2
 O1G
6d5x 1 Q96EY8 99.49 4e-145 X-RAY
 2018-10-10 GLU A:100 A:154 67.0 0.353 H -65.6 -39.7 43.0 0.226 0.127 C:Q96EY8:0.126
 3PO
HOH
 8.422
8.114
 OE2
N
 O2A
O
GLU B:100 B:154 65.0 0.342 H -63.3 -39.4 65.0 0.342 0.0 HOH
 2.790
 OE1
 O
GLU C:100 C:154 68.0 0.358 H -61.8 -41.4 21.0 0.111 0.247 B:Q96EY8:0.247
 ATP
HOH
 9.633
7.571
 OE2
OE2
 O1G
O
7ruv 1 Q96EY8 98.98 2e-144 X-RAY
 2021-11-24 GLU A:100 A:154 63.0 0.332 H -56.6 -39.7 63.0 0.332 0.0
GLU B:100 B:154 74.0 0.389 H -64.4 -35.6 NA NA NA
GLU C:100 C:154 58.0 0.305 H -63.8 -42.0 NA NA NA
GLU D:100 D:154 52.0 0.274 H -61.9 -33.4 NA NA NA
7rut 1 Q96EY8 98.98 2e-143 X-RAY
 2021-11-24 GLU A:100 E:154 65.0 0.342 H -62.1 -42.5 20.0 0.105 0.237 E:Q96EY8:0.237
 ATP
HOH
 9.092
2.927
 OE2
OE2
 O2G
O
GLU B:100 C:154 64.0 0.337 H -60.9 -39.3 NA NA NA
GLU C:100 F:154 63.0 0.332 H -62.0 -40.8 NA NA NA
GLU D:100 B:154 63.0 0.332 H -59.8 -41.8 NA NA NA
GLU E:100 A:154 63.0 0.332 H -64.4 -40.0 NA NA NA
GLU F:100 D:154 60.0 0.316 H -63.4 -40.9 16.0 0.084 0.232 A:Q96EY8:0.232
 ATP
HOH
 8.979
2.379
 OE2
OE1
 O2G
O
7ruu 1 Q96EY8 98.98 2e-143 X-RAY
 2021-11-24 GLU A:100 A:154 55.0 0.289 H -62.4 -39.3 55.0 0.289 0.0 ACT
HOH
 6.768
2.490
 N
OE2
 OXT
O
GLU B:100 B:154 53.0 0.279 H -61.9 -37.6 NA NA NA
GLU C:100 C:154 45.0 0.237 H -61.3 -37.2 NA NA NA
GLU D:100 D:154 62.0 0.326 H -61.1 -31.8 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:154 A:154 57.0 0.3 H -58.7 -46.9