Variant detail

mut_id 290 · c.706G>T · p.Gly236Cys

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Evidence at a glance

0
Linked patients
0
Patient-variant records
3
Linked references
0
Countries reported
—
Common phenotype
—
Common zygosity

Summary

Point missense_variant Residue 236 AlphaMissense key G236C
HGVS
c.706G>T
Protein change
p.Gly236Cys
rsID
rs781916049
GRCh38 coordinate
133428653
Location
exon 7
gnomAD AF
0.00000225
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
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
A phenotype-genotype correlation of ADAMTS13 mutations in congenital thrombotic thrombocytopenic purpura patients treated in the United Kingdom
Authors: Camilleri RS, Scully M, Thomas M, Mackie IJ, Liesner R, Chen WJ, Manns K, Machin SJ.
Source: J Thromb Haemost (2012)
Citation: J Thromb Haemost. 2012 Sep;10(9):1792-801. doi: 10.1111/j.1538-7836.2012.04852.x.
PubMed: 22783805 · DOI: 10.1111/j.1538-7836.2012.04852.x

Amino-acid property change

Residue substitution
G → C at 236
AlphaMissense score
0.7024
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophobic → hydrophilic
Charge
neutral → neutral (unchanged)
Polarity
polar → polar (unchanged)
Size
small → medium
Residue type
aliphatic → Unknown
Typical protein position
surface → buried
Hydropathy index
-0.4 → 2.5
Molecular weight
75.1 → 121.2
Original residue details
G · glycine
code: Gly
hydro: hydrophobic
charge: neutral
polarity: polar
size: small
type: aliphatic
Variant residue details
C · cysteine
code: Cys
hydro: hydrophilic
charge: neutral
polarity: polar
size: medium
type:

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 236 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.706G>T
cdna_numb_HGVS
706
cdna_numb_legacy
706
nt_change
G>T
n_bp
1
nuc_numb
706
g_numb
g16
aa_numb_HGVS
236
aa_numb_legacy
236
aa_first
Gly
aa_last
Cys
aa_syn
p.Gly236Cys
codon_first
GGC
codon_last
TGC
coordinate_GRCh38
133428653
gnomAD_AC
3
gnomAD_AN
1332712
gnomAD_AF
0.00000225
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
71, 72, 139, 321, 332

Patients linked by mut_id

No linked patients found.