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Table 3 The effect of ALMS1 variants on their protein function by in silico analysis

From: New pathogenic variants of ALMS1 gene in two Chinese families with Alström Syndrome

Software

Variants

Score

Predicted signal

Mutation taster

NM_015120.4:c.6754G > T

A and A and A,

Disease-causing automatic

CADD_raw_rankscore

NM_015120.4:c.6754G > T

0.97008

damaging

Mutation taster

NM_015120.4:c.10819C > T

A and A

Disease-causing automatic

CADD_raw_rankscore

NM_015120.4:c.10819C > T

0.99936

damaging

  1. To sum up, each of the two pathogenic variants is most likely the causative mutation for the disease phenotype in two families