Variant detail

mut_id 161 · c.4154A>C · p.Gln1385Pro

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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 1385 AlphaMissense key Q1385P
HGVS
c.4154A>C
Protein change
p.Gln1385Pro
Location
exon 29
Domain
CUB 2
Gene
ADAMTS13

References

Characterization and treatment of congenital thrombotic thrombocytopenic purpura
Authors: Alwan F, Vendramin C, Liesner R, Clark A, Lester W, Dutt T, Thomas W, Gooding R, Biss T, Watson HG, Cooper N, Rayment R, Cranfield T, van Veen JJ, Hill QA, Davis S, Motwani J, Bhatnagar N, Priddee N, David M, Crowley MP, Alamelu J, Lyall H, Westwood JP, Thomas M, Scully M.
Source: Blood (2019)
Citation: Blood. 2019 Apr 11;133(15):1644-1651. doi: 10.1182/blood-2018-11-884700. Epub 2019 Feb 15.
PubMed: 30770395 · DOI: 10.1182/blood-2018-11-884700

Amino-acid property change

Residue substitution
Q → P at 1385
AlphaMissense score
0.5977
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophilic → hydrophobic
Charge
neutral → neutral (unchanged)
Polarity
polar → nonpolar
Size
large → medium
Residue type
Not available
Typical protein position
surface → surface (unchanged)
Hydropathy index
-3.5 → -1.6
Molecular weight
146.1 → 115.1
Original residue details
Q · glutamine
code: Gln
hydro: hydrophilic
charge: neutral
polarity: polar
size: large
type:
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 1385 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.4154A>C
cdna_numb_HGVS
4154
cdna_numb_legacy
4154
nt_change
A>C
n_bp
1
nuc_numb
4154
g_numb
g16
aa_numb_HGVS
1385
aa_numb_legacy
1385
aa_first
Gln
aa_last
Pro
aa_syn
p.Gln1385Pro
codon_first
CAG
codon_last
CCG
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
73

Patients linked by mut_id

No linked patients found.