Variant

Genome Chromosome Position VCF ID Ref Alt mRNA Change mRNA Info
GRCh37 chr12 6128269 . C A CCDS8539.1:NM_000552.3:c.4315Gtg>Ttg_NP_000543.2:p.1439V>L Homo sapiens von Willebrand factor (VWF), 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)
5bv8 1 P04275 99.11 3e-149 X-RAY
 2015-12-23 VAL A:214 A:1439 91.0 0.587 E -111.2 115.4 91.0 0.587 0.0 HOH
 2.979
 N
 O
7f49 1 P04275 99.05 2e-140 X-RAY
 2021-07-07 VAL A:181 A:676 92.0 0.594 E -105.5 101.7 92.0 0.594 0.0 HOH
 2.903
 O
 O
1uex 3 P04275 99.52 3e-140 X-RAY
 2003-09-30 VAL C:180 C:676 93.0 0.6 E -115.2 100.2 26.0 0.168 0.432 B:2134245:0.432
 HOH
 9.488
 CG1
 O
3hxo 1 P04275 99.52 3e-140 X-RAY
 2009-11-17 VAL A:180 A:676 73.0 0.471 -77.5 116.6 73.0 0.471 0.0 DC
HOH
 8.640
3.348
 CG1
N
 N4
O
3hxq 1 P04275 99.52 3e-140 X-RAY
 2009-11-17 VAL A:180 A:676 91.0 0.587 E -102.1 107.1 91.0 0.587 0.0 DC
HOH
 8.793
4.931
 CG1
CG2
 N4
O
7eow 1 P04275 100.0 7e-140 X-RAY
 2021-07-07 VAL A:203 A:203 68.0 0.439 E -113.3 120.0 68.0 0.439 0.0 HOH
 3.505
 CG1
 O
1auq 1 P04275 99.52 1e-139 X-RAY
 1998-10-14 VAL A:179 A:676 68.0 0.439 E -97.9 125.3 68.0 0.439 0.0 HOH
 4.097
 CG1
 O
1u0n 1 P04275 99.52 1e-139 X-RAY
 2005-04-19 VAL A:179 A:676 92.0 0.594 E -92.7 120.9 92.0 0.594 0.0
1m10 1 P04275 99.04 7e-139 X-RAY
 2002-08-28 VAL A:179 A:676 76.0 0.49 E -116.6 139.7 76.0 0.49 0.0
7a6o 1 L8E853 99.51 5e-137 X-RAY
 2021-03-03 VAL A:178 AAA:1439 82.0 0.529 E -109.1 111.0 82.0 0.529 0.0 HOH
 2.912
 HG13
 O
1ijb 1 P04275 99.01 4e-134 X-RAY
 2002-07-10 VAL A:177 A:676 75.0 0.484 E -104.0 114.8 75.0 0.484 0.0 HOH
 2.782
 N
 O
1ijk 1 P04275 99.01 4e-134 X-RAY
 2002-07-10 VAL A:177 A:676 87.0 0.561 E -98.7 134.8 87.0 0.561 0.0 HOH
 2.561
 N
 O
1sq0 1 P04275 99.01 5e-134 X-RAY
 2004-04-13 VAL A:181 A:676 91.0 0.587 E -123.8 115.7 91.0 0.587 0.0 HOH
 3.056
 CG1
 O
4c2a 1 P04275 98.48 3e-130 X-RAY
 2014-01-08 VAL A:177 A:1439 88.0 0.568 E -117.4 119.3 88.0 0.568 0.0 HOH
 4.031
 N
 O
1oak 3 P04275 99.49 1e-128 X-RAY
 1998-10-21 VAL C:170 A:676 90.0 0.581 E -99.1 105.2 90.0 0.581 0.0 HOH
 2.850
 N
 O
1fns 3 P04275 98.97 2e-128 X-RAY
 2000-10-18 VAL C:170 A:676 68.0 0.439 E -105.3 114.4 68.0 0.439 0.0 HOH
 2.965
 N
 O
4c29 1 P04275 98.48 4e-128 X-RAY
 2014-01-08 VAL A:177 A:1439 104.0 0.671 E -117.9 124.6 104.0 0.671 0.0 HOH
 3.523
 CG1
 O
VAL B:177 B:1439 106.0 0.684 E -118.2 123.9 NA NA NA
4c2b 1 P04275 98.48 4e-128 X-RAY
 2014-01-08 VAL A:177 A:1439 89.0 0.574 E -105.8 111.8 89.0 0.574 0.0
VAL C:177 C:1439 82.0 0.529 -84.1 119.8 NA NA NA
VAL E:177 E:1439 81.0 0.523 E -97.1 115.3 NA NA NA
VAL G:177 G:1439 83.0 0.535 E -95.3 111.3 NA NA NA
1u0o 3 Q8CIZ8 87.02 2e-119 X-RAY
 2005-04-19 LEU C:179 C:676 80.0 0.471 E -96.3 122.2 80.0 0.471 0.0

AlphaFold DB

Entity Residue Monomer View
ID Entity Uniprot Identity Evalue Name Label Auth ASA rASA SS φ ψ
af-p04275-f2 1 P04275 99.93 0.0 VAL A:1239 A:1239 84.0 0.542 E -119.2 116.5
af-p04275-f3 1 P04275 99.93 0.0 VAL A:1039 A:1039 85.0 0.548 E -124.4 117.7
af-p04275-f6 1 P04275 100.0 0.0 VAL A:439 A:439 87.0 0.561 E -122.7 114.5
af-p04275-f5 1 P04275 99.93 0.0 VAL A:639 A:639 86.0 0.555 E -124.1 116.2
af-p04275-f8 1 P04275 100.0 0.0 VAL A:39 A:39 76.0 0.49 E -132.7 120.7
af-p04275-f7 1 P04275 100.0 0.0 VAL A:239 A:239 85.0 0.548 E -138.6 116.0
af-p04275-f4 1 P04275 99.93 0.0 VAL A:839 A:839 85.0 0.548 E -123.3 117.5