Variant detail

mut_id 115 · c.2724C>G · p.Cys908Trp

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Evidence at a glance

0
Linked patients
0
Patient-variant records
2
Linked references
0
Countries reported
—
Common phenotype
—
Common zygosity

Summary

Point missense_variant Residue 908 AlphaMissense key C908W
HGVS
c.2724C>G
Protein change
p.Cys908Trp
GRCh38 coordinate
133445812
Location
exon 21
Domain
TSP type-1 5
Gene
ADAMTS13

External links

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
The International Hereditary Thrombotic Thrombocytopenic Purpura Registry: key findings at enrollment until 2017
Authors: van Dorland HA, Taleghani MM, Sakai K, Friedman KD, George JN, Hrachovinova I, Knöbl PN, von Krogh AS, Schneppenheim R, Aebi-Huber I, Bütikofer L, Largiadèr CR, Cermakova Z, Kokame K, Miyata T, Yagi H, Terrell DR, Vesely SK, Matsumoto M, Lämmle B, Fujimura Y, Kremer Hovinga JA; Hereditary TTP Registry.
Source: Haematologica (2019)
Citation: Haematologica. 2019 Oct;104(10):2107-2115. doi: 10.3324/haematol.2019.216796. Epub 2019 Feb 21.
PubMed: 30792199 · DOI: 10.3324/haematol.2019.216796

Amino-acid property change

Residue substitution
C → W at 908
AlphaMissense score
0.7847
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophilic → hydrophobic
Charge
neutral → neutral (unchanged)
Polarity
polar → nonpolar
Size
medium → large
Residue type
Unknown → aromatic
Typical protein position
buried → buried (unchanged)
Hydropathy index
2.5 → -0.9
Molecular weight
121.2 → 204.2
Original residue details
C · cysteine
code: Cys
hydro: hydrophilic
charge: neutral
polarity: polar
size: medium
type:
Variant residue details
W · tryptophan
code: Trp
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: large
type: aromatic

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 908 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 5
Domain colours match the homepage domain viewer.

Patient summary

No linked patients found for this variant.

Variant fields

mut_syn_HGVS
c.2724C>G
cdna_numb_HGVS
2724
cdna_numb_legacy
2724
nt_change
C>G
n_bp
1
nuc_numb
2724
g_numb
g16
aa_numb_HGVS
908
aa_numb_legacy
908
aa_first
Cys
aa_last
Trp
aa_syn
p.Cys908Trp
codon_first
TGC
codon_last
TGG
coordinate_GRCh38
133445812
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
71, 72

Patients linked by mut_id

No linked patients found.