Variant detail

mut_id 5 · c.237C>G · p.Ile79Met

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Evidence at a glance

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

Summary

Point missense_variant not provided Residue 79 AlphaMissense key I79M
HGVS
c.237C>G
Protein change
p.Ile79Met
rsID
rs281875297
ClinVar ID
68811
GRCh38 coordinate
133424385
Location
exon 3
gnomAD AF
6.20E-07
Domain
Inter-domain / unassigned region
Gene
ADAMTS13

External links

dbSNP ClinVar gnomAD

References

A Rare Case of Thrombotic Thrombocytopenic Purpura Caused by Pancreatitis and Clopidogrel
Authors: Rawala MS, Naqvi STS, Khan MY, El Toukhy A.
Source: Am J Case Rep (2018)
Citation: Am J Case Rep. 2018 Oct 30;19:1288-1291. doi: 10.12659/AJCR.911679.
PubMed: 30374015 · DOI: 10.12659/AJCR.911679
An enzyme immunoassay of ADAMTS13 distinguishes patients with thrombotic thrombocytopenic purpura from normal individuals and carriers of ADAMTS13 mutations
Authors: Zhou W, Tsai HM.
Source: Thromb Haemost (2004)
Citation: Thromb Haemost. 2004 Apr;91(4):806-11. doi: 10.1160/TH03-11-0675.
PubMed: 15045144 · DOI: 10.1160/TH03-11-0675

Amino-acid property change

Residue substitution
I → M at 79
AlphaMissense score
0.1464
Likely benign
CSV class: LBen
Hydrophobicity
hydrophobic → hydrophobic (unchanged)
Charge
neutral → neutral (unchanged)
Polarity
nonpolar → nonpolar (unchanged)
Size
large → large (unchanged)
Residue type
aliphatic → Unknown
Typical protein position
buried → buried (unchanged)
Hydropathy index
4.5 → 1.9
Molecular weight
131.2 → 149.2
Original residue details
I · isoleucine
code: Ile
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: large
type: aliphatic
Variant residue details
M · methionine
code: Met
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: large
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 79 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Inter-domain / unassigned region
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Haiti (1)
Phenotype
cTTP (1)
Zygosity
compound_heterozygous (1)
Sex
female (1)
Pregnancy-related
no (1)
Triggers
none (1)
Treatment
unknown (1)
ADAMTS13 activity
n=1; median=5; range=5–5
Age of onset
n=1; median=1; range=1–1
Age of diagnosis
n=1; median=8; range=8–8
Platelet count
Not available

Variant fields

mut_syn_HGVS
c.237C>G
cdna_numb_HGVS
237
cdna_numb_legacy
237
nt_change
C>G
n_bp
1
nuc_numb
237
g_numb
g16
aa_numb_HGVS
79
aa_numb_legacy
79
aa_first
Ile
aa_last
Met
aa_syn
p.Ile79Met
codon_first
ATC
codon_last
ATG
coordinate_GRCh38
133424385
gnomAD_AC
1
gnomAD_AN
1613634
gnomAD_AF
6.20E-07
clinvar_id
68811
clinvar_classification
not provided
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
76, 176

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
266 5 296 176 cTTP compound_heterozygous Haiti female <1 8 <5 unknown no none unknown