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Table 3 AMYCO predicts disease-causing mutations on human prion-like proteins

From: AMYCO: evaluation of mutational impact on prion-like proteins aggregation propensity

Protein variant

AMYCO score

hnRNPA1 wt

0.34

hnRNPA1 Q277K

0.34

hnRNPA1 G283R

0.34

hnRNPA1 P340S

0.36

hnRNPA1 D314V

0.59

hnRNPA1 D314N

0.53

hnRNP DL wt

1.18

hnRNP DL D378H

1.26

hnRNP DL D378N

1.30

hnRNP D0 wt

1.13

hnRNP D0 F225 L

1.13

hnRNP D0 D319V

1.33

hnRNP D0 isoform-2 D300V

1.33

  1. AMYCO identifies multisystem proteinopathy and ALS causing mutations on hnRNPA1 [16], Crohn Disease causing mutations on both isoforms of hnRNP D0/AUF1 [21] and limb-girdle muscular dystrophy 1G (LGMD1G) on hnRNP DL [22] are shown in bold. Natural variants not associated to a clinical phenotype are shown in italics
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BMC Bioinformatics

ISSN: 1471-2105

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