Variant detail

mut_id 272 · c.4135T>C · p.Trp1379Arg

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Evidence at a glance

0
Linked patients
0
Patient-variant records
1
Linked references
0
Countries reported
—
Common phenotype
—
Common zygosity

Summary

Point missense_variant Residue 137 AlphaMissense key W137R
HGVS
c.4135T>C
Protein change
p.Trp1379Arg
rsID
rs1361529166
GRCh38 coordinate
133459031
Location
exon 29
gnomAD AF
0.0000031
Domain
Metalloprotease
Gene
ADAMTS13

External links

dbSNP gnomAD

References

Inherited Thrombotic Thrombocytopenic Purpura Revealed by Recurrent Strokes in a Male Adult: Case Report and Literature Review
Authors: Beauvais D, Venditti L, Chassin O, Joly B, Ameri A, Boisseau P, Lambotte O, Coppo P, Veyradier A, Denier C.
Source: J Stroke Cerebrovasc Dis (2019)
Citation: J Stroke Cerebrovasc Dis. 2019 Jun;28(6):1537-1539. doi: 10.1016/j.jstrokecerebrovasdis.2019.03.011. Epub 2019 Mar 28.
PubMed: 30930238 · DOI: 10.1016/j.jstrokecerebrovasdis.2019.03.011

Amino-acid property change

Residue substitution
W → R at 137
AlphaMissense score
Not available
No local AlphaMissense row found for W137R.
Hydrophobicity
hydrophobic → hydrophilic
Charge
neutral → postive
Polarity
nonpolar → polar
Size
large → large (unchanged)
Residue type
aromatic → basic
Typical protein position
buried → surface
Hydropathy index
-0.9 → -4.5
Molecular weight
204.2 → 174.2
Original residue details
W · tryptophan
code: Trp
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: large
type: aromatic
Variant residue details
R · arginine
code: Arg
hydro: hydrophilic
charge: postive
polarity: polar
size: large
type: basic

Interactive AlphaFold structure

Interactive local 3D view of the AlphaFold Q76LX8 ADAMTS13 structure.
Drag to rotate, shift-drag to move, and use the mouse wheel to zoom in and out. The default view shows the full ADAMTS13 structure, with residue 137 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Metalloprotease
Domain colours match the homepage domain viewer.

Patient summary

No linked patients found for this variant.

Variant fields

mut_syn_HGVS
c.4135T>C
cdna_numb_HGVS
4135
cdna_numb_legacy
4135
nt_change
T>C
n_bp
1
nuc_numb
4135
g_numb
g16
aa_numb_HGVS
137
aa_numb_legacy
137
aa_first
Trp
aa_last
Arg
aa_syn
p.Trp1379Arg
codon_first
TGG
codon_last
CGG
coordinate_GRCh38
133459031
gnomAD_AC
5
gnomAD_AN
1613096
gnomAD_AF
0.0000031
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
71

Patients linked by mut_id

No linked patients found.