On 2017 Jul 31, valentina di pietro commented:

Notes: The substitution I226T has never been found in patients affected by Canavan disease. Bioinformatics tools recently deployed to predict mutations did not confirm substitution of I226T as a mutation. According to PredictSNP (https://loschmidt.chemi.muni.cz/predictsnp1/) which combines six different methods (MAPP, Phd-SNP, Poly-phen1, Poly-phen2, SIFT, SNAP) into a consensus classifier, this is a neutral substitution with an 83% level of confidence. Meta-SNP (http://snps.biofold.org/meta-snp/), a meta-predictor which combines the outputs of PANTHER, PhD-SNP, SIFT and SNAP gives a final score of 0.242 . Only a score >0.5 indicates prediction of disease mutations.

On 2017 Jul 31, valentina di pietro commented:

Notes: The substitution I226T has never been found in patients affected by Canavan disease. Bioinformatics tools recently deployed to predict mutations did not confirm substitution of I226T as a mutation. According to PredictSNP (https://loschmidt.chemi.muni.cz/predictsnp1/) which combines six different methods (MAPP, Phd-SNP, Poly-phen1, Poly-phen2, SIFT, SNAP) into a consensus classifier, this is a neutral substitution with an 83% level of confidence. Meta-SNP (http://snps.biofold.org/meta-snp/), a meta-predictor which combines the outputs of PANTHER, PhD-SNP, SIFT and SNAP gives a final score of 0.242 . Only a score >0.5 indicates prediction of disease mutations.