From: Rare deleterious mutations of the gene EFR3A in autism spectrum disorders
Cohort | Exon | Amino acid changea | Chromosome | hg19 | Reference | Variant | ID | Sex | Father | Mother | Sib | PhyloP | GERP | ConSurf | Crystal |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Cases (n = 2,196) | SSC cases ( n = 705) | Β | |||||||||||||
3 | R70C | 8 | 132957112 | C | T | 12093.p1 | M | + | - | n/a | 2.95617 | 5.73 | β1.51 | Deleterious | |
4 | L118P | 8 | 132958867 | T | C | 12610.p1 | M | + | - | - F | 3.21686 | 5.47 | β0.73 | Deleterious | |
7 | G243A | 8 | 132968104 | G | C | 11572.p1 | M | - | + | + F | 6.387 | 5.64 | β0.291 | Benign | |
10 | F338Sb | 8 | 132982744 | T | C | 11379.p1 | F | - | - | - F | 4.58456 | 5.54 | β1.107 | Deleterious | |
15 | I534T | 8 | 132996411 | T | C | 11473.p1 | M | - | + | + F | 4.78917 | 6.02 | β0.113 | n/a | |
15 | I576_A577insIc | 8 | 132996539 | * | I:ATT | 11577.p1 | M | - | + | + F | 3.628 | 5.03 | 0.043 | n/a | |
22 | T785A | 8 | 133015525 | A | G | 11808.p1 | F | - | + | - F | 3.02491 | 4.27 | β0.312 | n/a | |
SSC cases ( n = 452) | Β | Β | Β | Β | Β | Β | Β | Β | Β | Β | Β | Β | Β | ||
5 | F123L | 8 | 132962216 | T | C | 13507.p1 | M | - | + | - M | 4.86423 | 5.51 | β1.377 | Deleterious | |
7 | G216Sfs*12d | 8 | 132968022 | * | I:TCGCATA | 11027.p1 | M | - | + | - M | 6.995 | 6.07 | β1.591 | Deleterious | |
AASC cases ( n = 1039) | Β | ||||||||||||||
3 | K50E | 8 | 132957052 | A | G | 20094 | M | n/a | 5.32367 | 5.55 | β1.59 | Deleterious | |||
9 | A321S | 8 | 132980647 | G | T | 00HI1409C | M | n/a | 3.10583 | 5.51 | β0.66 | Benign | |||
10 | V337L | 8 | 132982740 | G | C | 00HI1533A | M | n/a | 6.32607 | 5.54 | β0.986 | Benign | |||
14 | D504G | 8 | 132991604 | A | G | 06C57233 | M | n/a | 4.41785 | 5.06 | β0.002 | n/a | |||
14 | L508P | 8 | 132991616 | T | C | 07C71126 | M | n/a | 4.19838 | 5.06 | 0.349 | n/a | |||
14 | I510V | 8 | 132991621 | A | G | 20072 | M | n/a | 2.07681 | 3.88 | 0.088 | n/a | |||
15 | Q528R | 8 | 132996393 | A | G | 98HI0204A | M | n/a | 5.21937 | 6.02 | 0.08 | n/a | |||
17 | M646V | 8 | 132998507 | A | G | 08C73985A | M | n/a | 2.13232 | 4.65 | 2.129 | n/a | |||
Controls (n = 3,389) | NINDS controls ( n = 912) | ||||||||||||||
2 | P14R | 8 | 132952776 | C | G | ND11540 | M | n/a | 5.86267 | 5.93 | β1.264 | Benign | |||
NE controls ( n = 1,614) | Β | ||||||||||||||
5 | R161*d | 8 | 132962330 | C | T | S19G8 | M | n/a | 6.995 | 6.07 | β1.591 | Deleterious | |||
6 | M194V | 8 | 132966156 | A | G | S16H7 | F | n/a | 5.34254 | 5.73 | β0.985 | Benign | |||
9 | E320D | 8 | 132980646 | G | T | S6G2 | F | n/a | 1.06245 | 2.3 | β0.162 | Benign | |||
10 | N354D | 8 | 132982791 | A | G | S6B11 | M | n/a | 0.272244 | 0.403 | 1.188 | Benign | |||
13 | T451M | 8 | 132991119 | C | T | S4H5 | M | n/a | 2.72643 | 5.71 | 0.289 | Benign | |||
15 | R532W | 8 | 132996404 | C | T | S1B3 | F | n/a | 0.659283 | 0.794 | 1.218 | n/a | |||
15 | D570G | 8 | 132996519 | A | G | S15E2 | F | n/a | 5.21937 | 6.02 | β0.169 | n/a | |||
AASC controls ( n = 863) | Β | Β | Β | Β | Β | Β | Β | ||||||||
3 | G55C | 8 | 132957067 | G | T | 04C27095A | F | n/a | 6.81431 | 5.73 | β1.321 | Benign | |||
4 | F100L | 8 | 132958812 | T | C | 05C42103 | M | n/a | 4.82034 | 5.47 | β0.879 | Benign | |||
8 | D268G | 8 | 132971858 | A | G | 05C42750 | F | n/a | 4.99605 | 5.64 | 0.396 | Benign | |||
Β | 15_16 | ? (5β² splice site)d | 8 | 132996549 | T | C | 05C45515 | F | n/a | 6.995 | 6.07 | β1.591 | n/a |