Variant detail

mut_id 331 · c.2012C>T · p.Pro671Leu

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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 671 AlphaMissense key P671L
HGVS
c.2012C>T
Protein change
p.Pro671Leu
rsID
rs281875295
Location
exon 17
gnomAD AF
6.20E-07
Domain
Spacer
Gene
ADAMTS13

External links

dbSNP

References

Two cases of congenital thrombotic thrombocytopenicpurpura associated with pregnancy
Authors: Bai X*, Su J, Yu Z, Wang Z and Ruan C
Source: ISTH 2012 (2012)
Citation: ISTH 2012
PubMed: ISTH 2012

Amino-acid property change

Residue substitution
P → L at 671
AlphaMissense score
0.7038
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophobic → hydrophobic (unchanged)
Charge
neutral → neutral (unchanged)
Polarity
nonpolar → nonpolar (unchanged)
Size
medium → large
Residue type
Unknown → aliphatic
Typical protein position
surface → buried
Hydropathy index
-1.6 → 3.8
Molecular weight
115.1 → 131.2
Original residue details
P · proline
code: Pro
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: medium
type:
Variant residue details
L · leucine
code: Leu
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: large
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 671 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Spacer
Domain colours match the homepage domain viewer.

Patient summary

No linked patients found for this variant.

Variant fields

mut_syn_HGVS
c.2012C>T
cdna_numb_HGVS
2012
cdna_numb_legacy
2012
nt_change
C>T
n_bp
1
nuc_numb
2012
g_numb
g16
aa_numb_HGVS
671
aa_numb_legacy
671
aa_first
Pro
aa_last
Leu
aa_syn
p.Pro671Leu
codon_first
CCA
codon_last
CTA
gnomAD_AC
1
gnomAD_AN
1613912
gnomAD_AF
6.20E-07
g_id
g16
g_name
ADAMTS13
comments
not provided
refState
complete
ref_id
312

Patients linked by mut_id

No linked patients found.