In Depth Variant Analysis: c.302A>G (p.Lys101Arg)
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c.302A>G
p.Lys101Arg (Legacy AA No. 83)
Variant Type:
Point
Domain:
Apple 1
Codon Change:
A>G
Variant Effect:
Missense
No. of Patients Reported:
1
Phenotype:
U
Allele Count *:
3
Allele Number *:
251288
Allele Frequency *:
0.000012
Variant Comments & Reference:
Lys101 is a highly conserved residue positioned near Cys103, which is involved in a disulphide linkage. Although this substitution involves amino acids with similar physical and chemical properties, the change may affect local conformation. Hill et al 2005Residue Information:
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Substitution Analysis:
Structural Implications:
Lys101 is a buried residue (surface accessibility value = 0 ).
Lys101 is in a random coil area of the FXI structure.
The DSSP assignment for this residue is ... T.
Lys101 is in a random coil area of the FXI structure.
The DSSP assignment for this residue is ... T.
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| Spacefill | |
| Cartoon | |
| Wireframe | |
| Trace | |
| Backbone | |
| Spin | |
| Background | |
| Disulphides | |
| Domains | |
| Alternative Colouring | |
| Labels |
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