Variant

Genome Chromosome Position VCF ID Ref Alt mRNA Change mRNA Info
GRCh37 chr22 30057263 . A C CCDS13861.1:NM_000268.3:c.745Aga>Cga_NP_000259.1:p.249R>R Homo sapiens neurofibromin 2 (NF2), 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)
6cds 1 P35240 99.71 0.0 X-RAY
 2018-07-18 ARG A:249 A:249 111.0 0.493 S -82.7 -12.1 111.0 0.493 0.0 PO4
HOH
 7.890
2.947
 O
NH2
 O3
O
ARG B:249 B:249 112.0 0.498 S -83.2 -11.7 NA NA NA
7lwh 1 P35240 99.41 0.0 X-RAY
 2021-08-11 ARG A:249 A:249 111.0 0.493 S -84.9 2.7 111.0 0.493 0.0 IMD
HOH
 7.685
2.756
 O
NH1
 C2
O
1isn 1 P46662 99.38 0.0 X-RAY
 2002-04-03 ARG A:232 A:249 115.0 0.511 S -81.0 -16.7 115.0 0.511 0.0
4zrj 1 P35240 100.0 0.0 X-RAY
 2015-06-17 ARG A:249 A:249 113.0 0.502 S -85.2 -8.0 100.0 0.444 0.058 B:P35240:0.058
 GOL
GOL
HOH
 3.542
3.135
3.479
 O
NH1
NH2
 O3
O3
O
4zri 1 P35240 100.0 0.0 X-RAY
 2015-06-17 ARG A:253 A:249 104.0 0.462 S -98.8 -12.6 104.0 0.462 0.0 HOH
 3.409
 NH2
 O
ARG B:253 B:249 110.0 0.489 S -85.7 -15.4 NA NA NA
4zrk 1 P46662 99.38 0.0 X-RAY
 2015-06-17 ARG A:253 A:249 97.0 0.431 S -84.4 -1.1 97.0 0.431 0.0 HOH
 3.368
 NH2
 O
ARG B:253 B:249 103.0 0.458 S -84.1 -1.1 NA NA NA
ARG C:253 C:249 102.0 0.453 S -86.1 -3.8 NA NA NA
ARG D:253 D:249 97.0 0.431 S -83.7 1.8 NA NA NA
1h4r 1 P35240 100.0 0.0 X-RAY
 2002-01-16 ARG A:250 A:249 107.0 0.476 S -88.1 1.3 107.0 0.476 0.0 SO4
HOH
 6.947
2.599
 O
NH2
 O2
O
ARG B:250 B:249 110.0 0.489 S -86.5 -0.8 110.0 0.489 0.0 HOH
 2.733
 NH1
 O
4p7i 1 P46662 99.36 0.0 X-RAY
 2014-04-09 ARG A:253 A:249 103.0 0.458 S -90.2 -4.7 103.0 0.458 0.0 HOH
 5.114
 N
 O
ARG B:253 B:249 100.0 0.444 S -86.7 -5.4 NA NA NA
3u8z 1 P35240 100.0 0.0 X-RAY
 2011-11-02 ARG A:237 A:249 112.0 0.498 S -86.2 0.3 112.0 0.498 0.0 HOH
 3.047
 NH1
 O
ARG B:237 B:249 109.0 0.484 S -85.5 -0.1 NA NA NA
ARG C:237 C:249 112.0 0.498 S -84.4 0.1 112.0 0.498 0.0 HOH
 2.777
 NH1
 O
ARG D:237 D:249 109.0 0.484 S -86.1 -0.1 NA NA NA
3wa0 1 P46662 99.32 0.0 X-RAY
 2014-05-28 ARG A:236 A:249 103.0 0.458 S -95.0 -3.3 103.0 0.458 0.0 HOH
 2.945
 O
 O
ARG B:236 B:249 105.0 0.467 S -93.1 -3.5 NA NA NA
ARG C:236 C:249 104.0 0.462 S -97.4 -4.2 NA NA NA
ARG D:236 D:249 108.0 0.48 S -96.5 -5.2 NA NA NA
ARG E:236 E:249 103.0 0.458 S -93.6 -6.1 NA NA NA
ARG F:236 F:249 111.0 0.493 S -97.7 -3.1 NA NA NA

AlphaFold DB

Entity Residue Monomer View
ID Entity Uniprot Identity Evalue Name Label Auth ASA rASA SS φ ψ
af-p35240-f1 1 P35240 100.0 0.0 ARG A:249 A:249 115.0 0.511 S -83.9 -11.0