Variant detail

mut_id 163 · c.4205G>C · p.Arg1402Pro

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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 1402 AlphaMissense key R1402P
HGVS
c.4205G>C
Protein change
p.Arg1402Pro
Location
exon 29
Domain
CUB 2
Gene
ADAMTS13

References

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
R → P at 1402
AlphaMissense score
0.6015
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophilic → hydrophobic
Charge
postive → neutral
Polarity
polar → nonpolar
Size
large → medium
Residue type
basic → Unknown
Typical protein position
surface → surface (unchanged)
Hydropathy index
-4.5 → -1.6
Molecular weight
174.2 → 115.1
Original residue details
R · arginine
code: Arg
hydro: hydrophilic
charge: postive
polarity: polar
size: large
type: basic
Variant residue details
P · proline
code: Pro
hydro: hydrophobic
charge: neutral
polarity: nonpolar
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 1402 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: CUB 2
Domain colours match the homepage domain viewer.

Patient summary

No linked patients found for this variant.

Variant fields

mut_syn_HGVS
c.4205G>C
cdna_numb_HGVS
4205
cdna_numb_legacy
4205
nt_change
G>C
n_bp
1
nuc_numb
4205
g_numb
g16
aa_numb_HGVS
1402
aa_numb_legacy
1402
aa_first
Arg
aa_last
Pro
aa_syn
p.Arg1402Pro
codon_first
CGG
codon_last
CCG
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
72, 332

Patients linked by mut_id

No linked patients found.