Skip to main content

Table 2 SIFT and PolyPhen predictions of the possible impact of 13 amino acid variants in the CMMB on protein structure and function.

From: Efficient gene-driven germ-line point mutagenesis of C57BL/6J mice

Gene (protein ID)

Amino acid change

SIFT scorea

SIFT prediction

PolyPhen prediction

Mc1r(NP_032585)

Phe256Ser

(0.00)

(Not Tolerated)

Possibly Damaging

Scnm1(NP_081289)

Ile112Thr

(0.44)

(Tolerated)

Benign

Usp29(NP_067298)

Glu124Lys

(0.05)

(Tolerated)

Benign

Usp29(NP_067298)

Cys485Ser

0.01

Not Tolerated

Probably Damaging

Usp29(NP_067298)

Lys679Arg

0.05

Tolerated

Benign

Zim1(NP_035899)

Lys176Arg

0.62

Tolerated

Benign

Zim1(NP_035899)

Lys246Glu

(0.30)

(Tolerated)

Benign

Zim1(NP_035899)

Val460Glu

0.18

Tolerated

Benign

Myd88(NP_034981)

Val175Met

0.01

Not Tolerated

Benign

Myd88(NP_034981)

Ile273Lys

0.29

Tolerated

Probably Damaging

Ap2a1(NP_031484)

Glu414Gly

0.23

Tolerated

Possibly Damaging

Ap2a1(NP_031484)

Asn197Lys

0.36

Tolerated

Possibly Damaging

Pak4(NP_081746)

Pro283Ser

0.42

Tolerated

Possibly Damaging

  1. aSIFT scores indicate if amino acid changes are predicted to be Not Tolerated (<0.05) or Tolerated (≥0.05). SIFT scores and predictions in parentheses should be interpreted with caution because the median sequence conservation score was >3.25.