Table 1 Polymorphisms identified in the SLC27A3 and SLC27A4 genes using 267 ASD samples.
From: Investigation of the fatty acid transporter-encoding genes SLC27A3 and SLC27A4 in autism
Gene | Nucleotide change | Amino acid change | *dbSNP ID | Minor allele homo/hetero/major allele homo | **MAF | ***HWE | ****De novo |
|---|---|---|---|---|---|---|---|
SLC27A3 | c.271 A>G | p.Arg91Gly | New (rs138225868) | 0/1/261 | 0.2% | 0.98 | No |
c.387 C>T | Synonymous | rs36064263 | 0/2/265 | 0.4% | 0.95 | No | |
c.553 G>C | p.Gly185Arg | New (rs147251588) | 0/1/260 | 0.2% | 0.98 | No | |
c.808+24 C>T | — | New (ss1399952609) | 0/1/265 | 0.2% | 0.98 | No | |
c.809−24 C>T | — | New (ss1399952610) | 0/1/266 | 0.2% | 0.98 | No | |
c.980_981 dup | p.Thr327dup | New (rs149047357) | 0/2/260 | 0.4% | 0.95 | No | |
c.984 delC | p.Asp328GlufsX23 | New (rs143078987) | 0/4/258 | 0.8% | 0.90 | No | |
c.1,019−24 C>T | — | New (ss1399952611) | 0/1/266 | 0.2% | 0.98 | No | |
c.1,280 G>A | p.Arg427Gln | rs77673307 | 0/13/249 | 2.7% | 0.05 | No | |
c.1,302 G>A | Synonymous | New (rs139037399) | 0/1/266 | 0.2% | 0.98 | No | |
c.1,321 dupC | p.His441ProfsX2, p.Lys442Stop | New (rs144727289) | 0/1/261 | 0.2% | 0.98 | No | |
c.1,331 G>A | p.Arg444Gln | New (rs141932545) | 0/1/261 | 0.2% | 0.98 | No | |
c.1,348 G>A | p.Gly450Arg | New (rs146128753) | 0/11/251 | 2.1% | 0.73 | No | |
c.1,385 G>A | p.Arg462His | New (rs143908472) | 0/5/257 | 1.0% | 0.88 | No | |
c.1,434 C>T | Synonymous | New (rs146407808) | 0/2/265 | 0.4% | 0.95 | No | |
c.1,477 C>T | p.Arg493Cys | New (rs140637267) | 0/1/261 | 0.2% | 0.98 | No? | |
c.1,553 G>A | p.Arg518Gln | New (rs142414300) | 0/3/259 | 0.6% | 0.93 | No | |
c.1,588+19 G>A | — | New (ss1399952612) | 1/0/265 | 0.4% | 0.00 | No? | |
c.1,872 A>G | Synonymous | rs80014940 | 0/1/264 | 0.2% | 0.98 | No? | |
c.1,887 G>A | Synonymous | New (rs138193292) | 0/1/264 | 0.2% | 0.98 | No | |
c.1,914 C>T | Synonymous | New (rs146109147) | 0/1/264 | 0.2% | 0.98 | No | |
c.1,982 delC | p.Pro661HisfsX80 | New (rs142189417) | 0/4/256 | 0.8% | 0.90 | No | |
c.2,016+15 C>A | — | New (ss1399952613) | 0/2/263 | 0.4% | 0.95 | No | |
c.2,160 C>T | Synonymous | New (rs147511607) | 0/4/261 | 0.8% | 0.90 | No | |
SLC27A4 | c.168 C>T | Synonymous | rs181020996 | 0/3/264 | 0.6% | 0.93 | — |
c.250 G>A | p.Val84Ile | New (ss1399952594) | 0/1/266 | 0.2% | 0.98 | No | |
c.272 C>T | p.Thr91Met | rs138443340 | 0/1/266 | 0.2% | 0.98 | No | |
c.407 G>A | p.Arg136His | rs148684713 | 0/3/264 | 0.6% | 0.93 | No | |
c.625 G>A | p.Gly209Ser | rs2240953 | 15/87/165 | 21.9% | 0.43 | No | |
c.716−15 G>A | — | rs17848327 | 2/68/197 | 13.5% | 0.13 | — | |
c.785+7 G>A | — | rs17848328 | 0/13/254 | 2.4% | 0.68 | — | |
c.802 G>A | p.Ala268Thr | rs17848330 | 0/2/265 | 0.4% | 0.95 | No | |
c.1,299 C>T | Synonymous | rs78415617 | 0/2/265 | 0.4% | 0.95 | — | |
c.1,545 C>T | Synonymous | rs2240952 | 0/8/259 | 1.5% | 0.80 | — | |
c.1,575 C>T | Synonymous | New (ss1399952595) | 0/1/266 | 0.2% | 0.98 | — | |
c.1,775−13 C>T | — | New (ss1399952596) | 0/4/263 | 0.7% | 0.90 | — | |
c.1,932+24 G>A | — | rs138008274 | 0/2/265 | 0.4% | 0.95 | — |
