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Search Results: 3 unique variants retrieved


Variant No. 108
p.(Thr150Ala) Legacy AA No. 132
Variant Type:
Point
Genomic:
13275A>G
Domain:
Apple 2
Codon Change:
ACG > GCG
Variant Effect:
Missense
Location:
Exon (5)
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. 109
p.(Thr150Ilefs*13) Legacy AA No. 132
Variant Type:
Deletion
Genomic:
13276_13277del
Domain:
Apple 2
Codon Change:
Variant Effect:
Frameshift
Location:
Exon (5)
No of bases:
2
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 5

Individual Case Information : Show

Variant No. 110
p.(Thr150Met) Legacy AA No. 132
Variant Type:
Point
Genomic:
13276C>T
Domain:
Apple 2
Codon Change:
ACG > ATG
Variant Effect:
Missense
Location:
Exon (5)
No of bases:
1
No. of cases reported:
7
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is structural information available.

Individual Case Information : Show