Variant detail

mut_id 338 · c.2279delG · p.Gly760Alafs*18

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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

Deletion frameshift_variant Residue 760 AlphaMissense key G760A
HGVS
c.2279delG
Protein change
p.Gly760Alafs*18
Location
exon 19
gnomAD AF
0.00000125
Domain
TSP type-1 3
Gene
ADAMTS13

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
Congenital thrombotic thrombocytopenic purpura in association with a mutation in the second CUB domain of ADAMTS13
Authors: Pimanda JE, Maekawa A, Wind T, Paxton J, Chesterman CN, Hogg PJ.
Source: Blood (2004)
Citation: Blood. 2004 Jan 15;103(2):627-9. doi: 10.1182/blood-2003-04-1346. Epub 2003 Sep 25.
PubMed: 14512317 · DOI: 10.1182/blood-2003-04-1346

Amino-acid property change

Residue substitution
G → A at 760
AlphaMissense score
0.1224
Likely benign
CSV class: LBen
Hydrophobicity
hydrophobic → hydrophobic (unchanged)
Charge
neutral → neutral (unchanged)
Polarity
polar → nonpolar
Size
small → small (unchanged)
Residue type
aliphatic → aliphatic (unchanged)
Typical protein position
surface → buried
Hydropathy index
-0.4 → 1.8
Molecular weight
75.1 → 89.1
Original residue details
G · glycine
code: Gly
hydro: hydrophobic
charge: neutral
polarity: polar
size: small
type: aliphatic
Variant residue details
A · alanine
code: Ala
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: small
type: aliphatic

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 760 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 3
Domain colours match the homepage domain viewer.

Patient summary

No linked patients found for this variant.

Variant fields

mut_syn_HGVS
c.2279delG
cdna_numb_HGVS
2279
cdna_numb_legacy
2279
nt_change
Deletion
n_bp
1
nuc_numb
2279
g_numb
g16
aa_numb_HGVS
760
aa_numb_legacy
760
aa_first
Gly
aa_last
Ala
aa_syn
p.Gly760Alafs*18
gnomAD_AC
2
gnomAD_AN
1599284
gnomAD_AF
0.00000125
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
71, 72, 181, 332

Patients linked by mut_id

No linked patients found.