Variant detail

mut_id 349 · c.2851T>G · p.Cys951Gly

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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 Residue 951 AlphaMissense key C951G
HGVS
c.2851T>G
Protein change
p.Cys951Gly
rsID
rs121908468
Location
exon 22
gnomAD AF
0.00000312
Domain
TSP type-1 6
Gene
ADAMTS13

External links

dbSNP

References

Mutations and common polymorphisms in ADAMTS13 gene responsible for von Willebrand factor-cleaving protease activity
Authors: Kokame K, Matsumoto M, Soejima K, Yagi H, Ishizashi H, Funato M, Tamai H, Konno M, Kamide K, Kawano Y, Miyata T, Fujimura Y.
Source: Proc Natl Acad Sci U S A (2002)
Citation: Proc Natl Acad Sci U S A. 2002 Sep 3;99(18):11902-7. doi: 10.1073/pnas.172277399. Epub 2002 Aug 14.
PubMed: 12181489 · DOI: 10.1073/pnas.172277399

Amino-acid property change

Residue substitution
C → G at 951
AlphaMissense score
0.7007
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophilic → hydrophobic
Charge
neutral → neutral (unchanged)
Polarity
polar → polar (unchanged)
Size
medium → small
Residue type
Unknown → aliphatic
Typical protein position
buried → surface
Hydropathy index
2.5 → -0.4
Molecular weight
121.2 → 75.1
Original residue details
C · cysteine
code: Cys
hydro: hydrophilic
charge: neutral
polarity: polar
size: medium
type:
Variant residue details
G · glycine
code: Gly
hydro: hydrophobic
charge: neutral
polarity: polar
size: small
type: aliphatic

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 951 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 6
Domain colours match the homepage domain viewer.

Patient summary

No linked patients found for this variant.

Variant fields

mut_syn_HGVS
c.2851T>G
cdna_numb_HGVS
2851
cdna_numb_legacy
2851
nt_change
T>G
n_bp
1
nuc_numb
2851
g_numb
g16
aa_numb_HGVS
951
aa_numb_legacy
951
aa_first
Cys
aa_last
Gly
aa_syn
p.Cys951Gly
codon_first
TGC
codon_last
GGC
gnomAD_AC
5
gnomAD_AN
1601482
gnomAD_AF
0.00000312
g_id
g16
g_name
ADAMTS13
comments
Pathogenic
refState
complete
ref_id
188

Patients linked by mut_id

No linked patients found.