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Search Results: 3 unique variants retrieved


Variant No. 319
p.(Phe460Leu) Legacy AA No. 442
Variant Type:
Point
Genomic:
24748T>C
Domain:
Serine Protease
Codon Change:
TTC > CTC
Variant Effect:
Missense
Location:
Exon (12)
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show

Variant No. 320
p.(Phe460Val) Legacy AA No. 442
Variant Type:
Point
Genomic:
24748T>G
Domain:
Serine Protease
Codon Change:
TTC > GTC
Variant Effect:
Missense
Location:
Exon (12)
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is structural information available.

Individual Case Information : Show

Variant No. 321
p.(Phe460Leufs*6) Legacy AA No. 442
Variant Type:
Deletion
Genomic:
24750_24753del
Domain:
Serine Protease
Codon Change:
Variant Effect:
Frameshift
Location:
Exon (12)
No of bases:
4
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Deletion | Frameshift) of the variant at Exon 12

Individual Case Information : Show