Variant detail

mut_id 260 · c.3637T>C · p.Cys1213Arg

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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 Likely pathogenic Residue 121 AlphaMissense key C121R
HGVS
c.3637T>C
Protein change
p.Cys1213Arg
rsID
rs1554795860
ClinVar ID
3894576
Location
exon 26
gnomAD AF
0.00000124
Domain
Metalloprotease
Gene
ADAMTS13

External links

dbSNP ClinVar

References

Application of high-throughput sequencing for hereditary thrombocytopenia in southwestern China
Authors: Zhang L, Yu J, Xian Y, Wen X, Guan X, Guo Y, Luo M, Dou Y.
Source: J Clin Lab Anal (2021)
Citation: J Clin Lab Anal. 2021 Aug;35(8):e23896. doi: 10.1002/jcla.23896. Epub 2021 Jul 8.
PubMed: 34237177 · DOI: 10.1002/jcla.23896

Amino-acid property change

Residue substitution
C → R at 121
AlphaMissense score
Not available
No local AlphaMissense row found for C121R.
Hydrophobicity
hydrophilic → hydrophilic (unchanged)
Charge
neutral → postive
Polarity
polar → polar (unchanged)
Size
medium → large
Residue type
Unknown → basic
Typical protein position
buried → surface
Hydropathy index
2.5 → -4.5
Molecular weight
121.2 → 174.2
Original residue details
C · cysteine
code: Cys
hydro: hydrophilic
charge: neutral
polarity: polar
size: medium
type:
Variant residue details
R · arginine
code: Arg
hydro: hydrophilic
charge: postive
polarity: polar
size: large
type: basic

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 121 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.3637T>C
cdna_numb_HGVS
3637
cdna_numb_legacy
3637
nt_change
T>C
n_bp
1
nuc_numb
3637
g_numb
g16
aa_numb_HGVS
121
aa_numb_legacy
121
aa_first
Cys
aa_last
Arg
aa_syn
p.Cys1213Arg
codon_first
TGT
codon_last
CGT
gnomAD_AC
2
gnomAD_AN
1613454
gnomAD_AF
0.00000124
clinvar_id
3894576
clinvar_classification
Likely pathogenic
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
205

Patients linked by mut_id

No linked patients found.