Table 1:

ESRP1 and ESRP2 variants classification

ESRP1	Protein Domain	PolyPhen-2	SIFT	Alpha Missense	Zf in vivo assay	Py2T in vitro assay	Interpretation
Q90R		Damaging	Damaging, LC	Benign	Rescue	n/a	Benign
E194A		Benign	Benign	Benign	Rescue	n/a	Benign
D222fs		n/a	n/a	n/a	Mutant	Deficient	Damaging
L259V	RRM1	Damaging	Benign	Pathogenic	Rescue	Restored	Benign
K287R	RRM1	Damaging	Benign	Benign	Rescue	n/a	Benign
Y605F		Benign	Damaging, LC	Benign	Rescue	n/a	Benign
N643S		Benign	Benign	Benign	Rescue	Restored	Benign
ESRP2	Protein Domain	PolyPhen-2	SIFT	Alpha Missense	Zf in vivo assay	Py2T in vitro assay	Interpretation
L92Q		Benign	Damaging, LC	Likely pathogenic	Rescue	n/a	Benign
R250Q		Damaging	Damaging	Likely pathogenic	Rescue	Restored	Benign
R315H	RRM1	Damaging	Damaging	Likely pathogenic	Mutant	Deficient	Damaging
R353Q	RRM1	Damaging	Damaging	Likely pathogenic	Rescue	Restored	Benign
C372S	RRM2	Benign	Benign	Ambiguous	Rescue	n/a	Benign
R437H	RRM2	Damaging	Benign	Ambiguous	Rescue	n/a	Benign
T475T	RRM3	Benign	Benign	n/a	Rescue	Restored	Benign
S508L	RRM3	Damaging	Benign	Likely pathogenic	Rescue	Restored	Benign
R520STOP	RRM3	n/a	n/a	n/a	Mutant	Deficient	Damaging
E547del	RRM3	n/a	n/a	n/a	Rescue	n/a	Benign
L665W		Benign	Damaging, LC	Likely benign	Rescue	n/a	Benign
R667C		Damaging	Damaging, LC	Ambiguous	Rescue	Restored	Benign