Variant

Genome Chromosome Position VCF ID Ref Alt mRNA Change mRNA Info
GRCh37 chr12 109998890 . G A CCDS9131.1:NM_052845.3:c.539tCg>tTg_NP_443077.1:p.180S>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 SER A:126 A:180 50.0 0.435 H -51.7 -42.4 0.0 0.0 0.435 C:Q96EY8:0.435
 HOH
 3.181
 OG
 O
SER B:126 B:180 51.0 0.443 H -67.9 -45.4 0.0 0.0 0.443 A:Q96EY8:0.443
 HOH
 2.836
 O
 O
SER C:126 C:180 47.0 0.409 H -73.3 -36.6 0.0 0.0 0.409 B:Q96EY8:0.409
 HOH
 3.537
 OG
 O
6d5k 1 Q96EY8 99.49 4e-145 X-RAY
 2018-10-10 SER A:126 A:180 52.0 0.452 H -66.7 -49.8 1.0 0.009 0.443 C:Q96EY8:0.443
SER B:126 B:180 48.0 0.417 H -59.4 -36.9 0.0 0.0 0.417 A:Q96EY8:0.417
SER C:126 C:180 51.0 0.443 H -64.9 -45.5 0.0 0.0 0.443 B:Q96EY8:0.443
6d5x 1 Q96EY8 99.49 4e-145 X-RAY
 2018-10-10 SER A:126 A:180 53.0 0.461 H -65.7 -44.2 0.0 0.0 0.461 C:Q96EY8:0.461
 HOH
 6.016
 N
 O
SER B:126 B:180 49.0 0.426 H -63.2 -42.1 0.0 0.0 0.426 A:Q96EY8:0.426
SER C:126 C:180 49.0 0.426 H -63.4 -43.1 0.0 0.0 0.426 B:Q96EY8:0.426
 HOH
 7.034
 O
 O
7ruv 1 Q96EY8 98.98 2e-144 X-RAY
 2021-11-24 SER A:126 A:180 52.0 0.452 H -65.1 -37.1 0.0 0.0 0.452 A:Q96EY8:0.452
 MG
MG
MG
HOH
 9.182
9.182
9.182
4.930
 OG
OG
OG
N
 MG
MG
MG
O
SER B:126 B:180 55.0 0.478 H -65.3 -37.1 NA NA NA
SER C:126 C:180 51.0 0.443 H -71.9 -34.5 NA NA NA
SER D:126 D:180 51.0 0.443 H -68.6 -36.5 NA NA NA
7rut 1 Q96EY8 98.98 2e-143 X-RAY
 2021-11-24 SER A:126 E:180 48.0 0.417 H -67.3 -38.7 0.0 0.0 0.417 E:Q96EY8:0.417
 HOH
 2.807
 O
 O
SER B:126 C:180 47.0 0.409 H -66.8 -38.0 NA NA NA
SER C:126 F:180 51.0 0.443 H -64.9 -38.2 NA NA NA
SER D:126 B:180 57.0 0.496 H -64.8 -38.1 NA NA NA
SER E:126 A:180 51.0 0.443 H -60.9 -43.9 NA NA NA
SER F:126 D:180 47.0 0.409 H -64.6 -39.1 0.0 0.0 0.409 A:Q96EY8:0.409
 HOH
 2.755
 O
 O
7ruu 1 Q96EY8 98.98 2e-143 X-RAY
 2021-11-24 SER A:126 A:180 47.0 0.409 H -64.7 -40.6 0.0 0.0 0.409 A:Q96EY8:0.409
 HOH
 4.968
 N
 O
SER B:126 B:180 51.0 0.443 H -70.3 -34.8 NA NA NA
SER C:126 C:180 54.0 0.47 H -68.0 -36.8 NA NA NA
SER D:126 D:180 55.0 0.478 H -68.8 -38.3 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 SER A:180 A:180 50.0 0.435 H -64.6 -41.6