Variant detail

mut_id 363 · c.3829C>T · p.Pro1277Ser

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Evidence at a glance

0
Linked patients
0
Patient-variant records
0
Linked references
0
Countries reported
—
Common phenotype
—
Common zygosity

Summary

Point missense_variant Residue 1277 AlphaMissense key P1277S
HGVS
c.3829C>T
Protein change
p.Pro1277Ser
Location
exon 27
Domain
CUB 1
Gene
ADAMTS13

References

No references linked via ref_id / all_references / reference.

Amino-acid property change

Residue substitution
P → S at 1277
AlphaMissense score
Not available
No local AlphaMissense row found for P1277S.
Hydrophobicity
hydrophobic → hydrophilic
Charge
neutral → neutral (unchanged)
Polarity
nonpolar → polar
Size
medium → small
Residue type
Not available
Typical protein position
surface → surface (unchanged)
Hydropathy index
-1.6 → -0.8
Molecular weight
115.1 → 105.0
Original residue details
P · proline
code: Pro
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: medium
type:
Variant residue details
S · serine
code: Ser
hydro: hydrophilic
charge: neutral
polarity: polar
size: small
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 1277 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: CUB 1
Domain colours match the homepage domain viewer.

Patient summary

No linked patients found for this variant.

Variant fields

mut_syn_HGVS
c.3829C>T
cdna_numb_HGVS
3829
cdna_numb_legacy
3829
nt_change
C>T
n_bp
1
nuc_numb
3829
g_numb
g16
aa_numb_HGVS
1277
aa_numb_legacy
1277
aa_first
Pro
aa_last
Ser
aa_syn
p.Pro1277Ser
codon_first
CCG
codon_last
TCG
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
332

Patients linked by mut_id

No linked patients found.