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Search Results: 2 unique variants retrieved


Variant No. 387
p.(Cys599Tyr) Legacy AA No. 581
Variant Type:
Point
Genomic:
27569G>A
Domain:
Serine Protease
Codon Change:
TGT > TAT
Variant Effect:
Missense
Location:
Exon (15)
No of bases:
1
No. of cases reported:
3
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. 388
p.(Cys599*) Legacy AA No. 581
Variant Type:
Point
Genomic:
27570T>A
Domain:
Serine Protease
Codon Change:
TGT > TGA
Variant Effect:
Nonsense
Location:
Exon (15)
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Nonsense) of the variant at Exon 15

Individual Case Information : Show