Variant Effect Predictor (Ensembl ):
SIFT=tolerated(0.14);
PolyPhen=benign(0.004);
Condel=deleterious(0.801)
Mutation Tasting Prediction: Polymorphism p value: 0.999959; protein features (might be) affected (Detail: aa 32-5042 TOPO_DOMAIN Extracellular gets lost)
SIFT: Affect protein function 0.02
GVGD: GV 30.92; GD 69.84; Class C25
Multi-alignment of O75445.3 Usher syndrome 2A (autosomal recessive, mild) [Homo sapiens] with:
XP_514197.2 [Pan troglodytes]
XP_514197.2 [Pan troglodytes]
XP_002760562.1 [Callithrix jacchus]
XP_001915680.1 [Equus caballus]
NP_001178354.1 [Bos taurus]
XP_545710.2 [Canis familiaris]
XP_002693994.1 [Bos taurus]
XP_002924255.1 [Ailuropoda melanoleuca]
XP_001375119.1 [Monodelphis domestica]
EFB20486.1 [Ailuropoda melanoleuca]
NP_067383.3 [Mus musculus]
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