Variant

Genome Chromosome Position VCF ID Ref Alt mRNA Change mRNA Info
GRCh37 chr12 109998906 . C A CCDS9131.1:NM_052845.3:c.523Gga>Tga_NP_443077.1:p.175G>* 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 GLY A:121 A:175 4.0 0.053 S 95.4 26.6 1.0 0.013 0.04 C:Q96EY8:0.04
HOH
3.008
O
O
GLY B:121 B:175 3.0 0.04 S 109.6 20.3 1.0 0.013 0.027 A:Q96EY8:0.027
HOH
2.670
O
O
GLY C:121 C:175 6.0 0.08 S 110.0 11.9 3.0 0.04 0.04 B:Q96EY8:0.04
HOH
2.805
O
O
6d5k 1 Q96EY8 99.49 4e-145 X-RAY
2018-10-10 GLY A:121 A:175 10.0 0.133 S 95.8 41.6 4.0 0.053 0.08 C:Q96EY8:0.08
GLY B:121 B:175 3.0 0.04 S 102.9 26.7 1.0 0.013 0.027 A:Q96EY8:0.027
GLY C:121 C:175 5.0 0.067 S 92.5 39.2 1.0 0.013 0.054 B:Q96EY8:0.053
HOH
9.333
O
O
6d5x 1 Q96EY8 99.49 4e-145 X-RAY
2018-10-10 GLY A:121 A:175 3.0 0.04 S 104.8 20.7 2.0 0.027 0.013 C:Q96EY8:0.013
HOH
4.649
CA
O
GLY B:121 B:175 5.0 0.067 S 99.5 24.8 2.0 0.027 0.04 A:Q96EY8:0.04
GLY C:121 C:175 6.0 0.08 S 97.2 23.1 2.0 0.027 0.053 B:Q96EY8:0.053
HOH
9.617
O
O
7ruv 1 Q96EY8 98.98 2e-144 X-RAY
2021-11-24 GLY A:121 A:175 35.0 0.467 360.0 54.7 26.0 0.347 0.12 A:Q96EY8:0.12
B12
HOH
9.875
3.039
N
O
N45
O
GLY B:121 B:175 26.0 0.347 360.0 55.5 NA NA NA
GLY C:121 C:175 9.0 0.12 S 90.9 17.9 NA NA NA
GLY D:121 D:175 7.0 0.093 S 95.4 14.4 NA NA NA
7rut 1 Q96EY8 98.98 2e-143 X-RAY
2021-11-24 GLY A:121 E:175 2.0 0.027 S 107.9 14.5 1.0 0.013 0.014 E:Q96EY8:0.013
HOH
2.841
N
O
GLY B:121 C:175 3.0 0.04 S 104.1 12.9 NA NA NA
GLY C:121 F:175 2.0 0.027 S 108.7 10.7 NA NA NA
GLY D:121 B:175 7.0 0.093 S 102.9 19.8 NA NA NA
GLY E:121 A:175 9.0 0.12 S 98.4 17.0 NA NA NA
GLY F:121 D:175 6.0 0.08 S 99.4 15.0 2.0 0.027 0.053 A:Q96EY8:0.053
HOH
2.854
O
O
7ruu 1 Q96EY8 98.98 2e-143 X-RAY
2021-11-24 GLY A:121 A:175 9.0 0.12 S 90.4 15.0 8.0 0.107 0.013 A:Q96EY8:0.013
HOH
2.949
O
O
GLY B:121 B:175 9.0 0.12 S 91.9 9.2 NA NA NA
GLY C:121 C:175 10.0 0.133 S 99.9 16.7 NA NA NA
GLY D:121 D:175 8.0 0.107 S 102.0 10.6 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 GLY A:175 A:175 8.0 0.107 S 101.1 31.1