Variant detail

mut_id 162 · c.4156G>C · p.Ala1386Pro

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Evidence at a glance

2
Linked patients
2
Patient-variant records
1
Linked references
1
Countries reported
cTTP (2)
Common phenotype
compound_heterozygous (2)
Common zygosity

Summary

Point missense_variant Residue 1386 AlphaMissense key A1386P
HGVS
c.4156G>C
Protein change
p.Ala1386Pro
Location
exon 29
Domain
CUB 2
Gene
ADAMTS13

References

Adult-onset congenital thrombotic thrombocytopenic purpura caused by a novel compound heterozygous mutation of the ADAMTS13 gene
Authors: Krabbe JG, Kemna EW, Strunk AL, Jobse PA, Kramer PA, Dikkeschei LD, van den Heuvel LP, Fijnheer R, Verdonck LF.
Source: Int J Hematol (2015)
Citation: Int J Hematol. 2015 Oct;102(4):477-81. doi: 10.1007/s12185-015-1849-2. Epub 2015 Aug 13.
PubMed: 26267233 · DOI: 10.1007/s12185-015-1849-2

Amino-acid property change

Residue substitution
A → P at 1386
AlphaMissense score
0.9499
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophobic → hydrophobic (unchanged)
Charge
neutral → neutral (unchanged)
Polarity
nonpolar → nonpolar (unchanged)
Size
small → medium
Residue type
aliphatic → Unknown
Typical protein position
buried → surface
Hydropathy index
1.8 → -1.6
Molecular weight
89.1 → 115.1
Original residue details
A · alanine
code: Ala
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: small
type: aliphatic
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 1386 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: CUB 2
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
South Korea (2)
Phenotype
cTTP (2)
Zygosity
compound_heterozygous (2)
Sex
male (2)
Pregnancy-related
no (2)
Triggers
unknown (2)
Treatment
PI (2)
ADAMTS13 activity
n=2; median=3; range=3–3
Age of onset
n=2; median=45.5; range=45–46
Age of diagnosis
n=2; median=55.5; range=52–59
Platelet count
Not available

Variant fields

mut_syn_HGVS
c.4156G>C
cdna_numb_HGVS
4156
cdna_numb_legacy
4156
nt_change
G>C
n_bp
1
nuc_numb
4156
g_numb
g16
aa_numb_HGVS
1386
aa_numb_legacy
1386
aa_first
Ala
aa_last
Pro
aa_syn
p.Ala1386Pro
codon_first
GCT
codon_last
CCT
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
102

Patients linked by mut_id

patient_id mut_id compound_partner_mut_id ref_id phenotype zygosity country sex age_of_onset age_of_diagnosis ad13_activity platelet_count pregnancy_related triggers treatment
54 162 345 102 cTTP compound_heterozygous South Korea male 46 59 <3 unknown no unknown PI
55 162 345 102 cTTP compound_heterozygous South Korea male 45 52 <3 unknown no unknown PI