Variant detail
mut_id 368 · c.946G>C · p.Gly316Arg
Evidence at a glance
1
Linked patients
1
Patient-variant records
0
Linked references
1
Countries reported
cTTP (1)
Common phenotype
homozygous (1)
Common zygosity
Summary
Point missense_variant Residue 316 AlphaMissense key G316R
HGVS
c.946G>C
Protein change
p.Gly316Arg
GRCh38 coordinate
133430060
Location
exon 8
Domain
Disintegrin
Gene
ADAMTS13
External links
References
No references linked via ref_id / all_references / reference.
Amino-acid property change
Residue substitution
G → R at 316
AlphaMissense score
0.6179
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophobic → hydrophilic
Charge
neutral → postive
Polarity
polar → polar (unchanged)
Size
small → large
Residue type
aliphatic → basic
Typical protein position
surface → surface (unchanged)
Hydropathy index
-0.4 → -4.5
Molecular weight
75.1 → 174.2
Original residue details
G
· glycine
code: Gly
hydro: hydrophobic
charge: neutral
polarity: polar
size: small
type: aliphatic
code: Gly
hydro: hydrophobic
charge: neutral
polarity: polar
size: small
type: aliphatic
Variant residue details
R
· arginine
code: Arg
hydro: hydrophilic
charge: postive
polarity: polar
size: large
type: basic
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 316 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Disintegrin
Domain colours match the homepage domain viewer.
Patient summary
Countries represented
India (1)
Phenotype
cTTP (1)
Zygosity
homozygous (1)
Sex
female (1)
Pregnancy-related
no (1)
Triggers
none (1)
Treatment
PI (1)
ADAMTS13 activity
n=1; median=3; range=3–3
Age of onset
Not available
Age of diagnosis
n=1; median=10; range=10–10
Platelet count
n=1; median=38; range=38–38
Variant fields
mut_syn_HGVS
c.946G>C
cdna_numb_HGVS
946
cdna_numb_legacy
946
nt_change
G>C
n_bp
1
nuc_numb
946
g_numb
g16
aa_numb_HGVS
316
aa_numb_legacy
316
aa_first
Gly
aa_last
Arg
aa_syn
p.Gly316Arg
codon_first
GGC
codon_last
CGC
coordinate_GRCh38
133430060
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
328
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 279 | 368 | . | 328 | cTTP | homozygous | India | female | unknown | 10 | <3 | 38 | no | none | PI |