Data Display Options:

UNIQUE (Without Case Data) :
MULTIPLE (With Case Data) :

  Search Results: 2 unique variants retrieved



  c.1652A>G
p.(Tyr551Cys) (Legacy AA No.532)
Variant Type:
Point
Domain:
A2
Sequence Context:
TAT > TGT
Variant Effect:
Missense
Location:
Exon 11
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is the available information.

Individual Case Information : Show


  c.1653T>G
p.(Tyr551*) (Legacy AA No.532)
Variant Type:
Point
Domain:
A2
Sequence Context:
TAT > TAG
Variant Effect:
Nonsense
Location:
Exon 11
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Nonsense) of mutation at Exon 11

Individual Case Information : Show