Variant detail

mut_id 266 · c.3820C>T · p.Arg1274Cys

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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 Uncertain significance Residue 127 AlphaMissense key R127C
HGVS
c.3820C>T
Protein change
p.Arg1274Cys
rsID
rs371964138
ClinVar ID
2175504
GRCh38 coordinate
133456647
Location
exon 27
gnomAD AF
0.000109
Domain
Metalloprotease
Gene
ADAMTS13

External links

dbSNP ClinVar gnomAD

References

SNPs in ADAMTS13
Authors: Tseng SC, Kimchi-Sarfaty C.
Source: Pharmacogenomics (2011)
Citation: Pharmacogenomics. 2011 Aug;12(8):1147-60. doi: 10.2217/pgs.11.66.
PubMed: 21843064 · DOI: 10.2217/pgs.11.66

Amino-acid property change

Residue substitution
R → C at 127
AlphaMissense score
Not available
No local AlphaMissense row found for R127C.
Hydrophobicity
hydrophilic → hydrophilic (unchanged)
Charge
postive → neutral
Polarity
polar → polar (unchanged)
Size
large → medium
Residue type
basic → Unknown
Typical protein position
surface → buried
Hydropathy index
-4.5 → 2.5
Molecular weight
174.2 → 121.2
Original residue details
R · arginine
code: Arg
hydro: hydrophilic
charge: postive
polarity: polar
size: large
type: basic
Variant residue details
C · cysteine
code: Cys
hydro: hydrophilic
charge: neutral
polarity: polar
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 127 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Metalloprotease
Domain colours match the homepage domain viewer.

Patient summary

No linked patients found for this variant.

Variant fields

mut_syn_HGVS
c.3820C>T
cdna_numb_HGVS
3820
cdna_numb_legacy
3820
nt_change
C>T
n_bp
1
nuc_numb
3820
g_numb
g16
aa_numb_HGVS
127
aa_numb_legacy
127
aa_first
Arg
aa_last
Cys
aa_syn
p.Arg1274Cys
codon_first
CGC
codon_last
TGC
coordinate_GRCh38
133456647
gnomAD_AC
175
gnomAD_AN
1606026
gnomAD_AF
0.000109
clinvar_id
2175504
clinvar_classification
Uncertain significance
g_id
g16
g_name
ADAMTS13
comments
Uncertain significance
refState
complete
ref_id
253

Patients linked by mut_id

No linked patients found.