Supporting Material For

Vanderver 1 Manuscript ID: 365627

Table e-3: Comprehensive List of Reported AxD-associated GFAP mutations: Frequencies of Type

I and Type II cases (N = 195) are listed for each mutation.

GFAP GFAP # Type I # Type II Mutation exon domain # Cases cases cases First reference K63Q 1 N-terminus 1 0 1 e2 R66Q 1 Coil 1A 1 0 1 Novel R70Q 1 Coil 1A 2 0 2 20 R70W 1 Coil 1A 4 0 3 e27 E72K 1 Coil 1A 1 1 0 Novel M73K 1 Coil 1A 1 1 0 20 M73R 1 Coil 1A 2 1 0 25 M73T 1 Coil 1A 1 0 1 e2 M74T 1 Coil 1A 1 0 1 e15 L76F 1 Coil 1A 3 3 0 e2 L76V 1 Coil 1A 1 -- -- e2 N77S 1 Coil 1A 2 1 0 e2 N77Y 1 Coil 1A 1 0 1 e19 D78E 1 Coil 1A 7 0 7 e27 R79C 1 Coil 1A 18 13 5 2 R79G 1 Coil 1A 1 1 0 25 R79H 1 Coil 1A 14 13 1 2 R79L 1 Coil 1A 1 1 0 e25 R79P 1 Coil 1A 1 1 0 20 R79S 1 Coil 1A 1 1 0 e44 Y83H 1 Coil 1A 1 0 1 e35 K86E 1 Coil 1A 1 1 0 Novel K86V87delinsEF 1 Coil 1A 1 0 1 e31 V87G 1 Coil 1A 6 0 6 e16 R88C 1 Coil 1A 15 8 5 e19 R88S 1 Coil 1A 2 2 0 e19 L90P 1 Coil 1A 1 1 0 e28 Q93P 1 Coil 1A 1 0 1 40 L97P 1 Coil 1A 2 1 0 e5 L101P 1 Coil 1A 1 0 1 36 RL126-127dup 1 Coil 1B 1 1 0 e31 D128N 1 Coil 1B 1 0 1 23 E205K 3 Coil 1B 1 0 1 23 E207K 3 Coil 1B 1 0 1 e2 E207Q 3 Coil 1B 2 0 1 e2 E210K 3 Coil 1B 3 1 2 e31 E223Q 4 Linker 12 2 0 2 17 L235P 4 Coil 2A 3 1 2 e2 K236T 4 Coil 2A 1 1 0 Novel R239C 4 Coil 2A 27 22 2 2 R239H 4 Coil 2A 11 9 0 2 R239L 4 Coil 2A 3 3 0 e1 R239P 4 Coil 2A 3 2 1 e5 Vanderver 2 Manuscript ID: 365627

Y242D 4 Coil 2A 1 1 0 25 A244V 4 Coil 2A 2 1 1 11 A253G 4 Linker 2 1 1 0 e2 Y257C 4 Coil 2B 1 0 1 30 R258P 4 Coil 2B 1 1 0 2 A267P 5 Coil 2B 1 0 1 28 R276L 5 Coil 2B 2 0 2 e10 K279E 5 Coil 2B 1 1 0 e2 R330G 6 Coil 2B 2 0 2 15 L331P 6 Coil 2B 3 0 3 e23 E332K 6 Coil 2B 3 0 3 15 H349Lins 6 Coil 2B 1 0 1 e2 L352P 6 Coil 2B 1 1 0 16 L357P 6 Coil 2B 1 0 1 e12 A358V 6 Coil 2B 1 1 0 21 L359P 6 Coil 2B 2 0 2 20 L359V 6 Coil 2B 1 1 0 e2 D360V 6 Coil 2B 1 0 1 34 E362D 6 Coil 2B 1 1 0 e22 A364P 6 Coil 2B 1 1 0 e2 A364V 6 Coil 2B 1 1 0 27 Y366C 6 Coil 2B 1 1 0 27 Y366H 6 Coil 2B 1 1 0 e2 E371G 6 Coil 2B 1 1 0 37 E371Q 6 Coil 2B 1 0 1 Novel E371V 6 Coil 2B 1 1 0 Novel E373K 6 C-terminus 5 3 0 25 E373Q 6 C-terminus 2 -- -- e2 E374G 6 C-terminus 1 -- -- e2 R376G 6 C-terminus 1 1 0 Novel R376W 6 C-terminus 3 1 0 29 N386I 7 C-terminus 1 1 0 19 S393I 8 C-terminus 3 1 2 e20 R416W 8 C-terminus 12 5 7 2 Deletion frameshift 0 1 affecting AA 416-432 8 C-terminus 1 e9