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. Author manuscript; available in PMC: 2015 Mar 25.
Published in final edited form as: J Neuromuscul Dis. 2015;2(1):87–92. doi: 10.3233/JND-140038

Table 2.

Mutations identified in families A–C

Gene Transcript Family A
Family B
Family C
DYSF
NM 003494		 FKTN
NM 001079802		 ISPD
NM 001101426
cDNA c.2779delG (Hom) c.915G>C (Het) c.920G>A (Het) c.458T>C (Het) c.535-3C>G (Het)
Protein p.Ala927LeufsX21 p.Trp305Cys p.Arg307Gln p.Ile153Thr p.(?)
SIFT NA Deleterious Deleterious Deleterious NA
PolyPhen NA Probably damaging Probably damaging Probably damaging NA
MaxEntScan Unlikely impact Unlikely impact Unlikely impact Unlikely impact Likely impact (wt = 10.2, var = 0.7)
NNSplice Unlikely impact Unlikely impact Unlikely impact Unlikely impact Likely impact (wt = 0.99, var = 0.5)