Gene | GenBank ID | Exon | Nucleotide Variation | Amino Acid Variation | dbSNP Number | Public Minor Allele Frequencies (MAF)* | MAF in Present Patients** |
---|---|---|---|---|---|---|---|
TNFRSF1A | NM_001065 | 10 | c.362 G>A | p.R121Q | Regarded as hypomorphic mutation*** | 1/10 | |
ERAP1 | NM_016442 | 2 | c.171c>t | p.Y57Y | Unreported | 1/10 | |
2 | c.380g>c | p.R127P | rs26653 | C = 0.28 | 2/10 | ||
5 | c.828a>g | p.1276M | rs26618 | G = 0.25 | 2/10 | ||
6 | c.1045 a>g | p.M349V | rs2287987 | G = 0.24 | 4/10 | ||
6 | c.1068 t>c | p.A356A | rs27434 | T = 0.18 | 1/10 | ||
8 | c.1251c>t | p.H417H | rs3213809 | T = 0.01 | 4/10† | ||
9 | c.1359c>t | p.S453S | rs27529 | T = 0.31 | 6/10 | ||
11 | c.1583a>g | p.K528R | rs30187 | A = 0.30 | 5/10 | ||
12 | c.1723g>a | p.D575N | rs10050860 | A = 0.24 | 3/10 | ||
13 | c.1911 g>a | p.A637A | rs469783 | G = 0.39 | 5/10 | ||
15 | c.2174g>a | p.R725Q | rs17482078 | A = 0.18 | 2/10 | ||
15 | c.2188c>g | p.Q729E | rs27044 | C = 0.25 | 3/10 | ||
17 | c.2542 c>t | p.L848L | rs17481856 | T = 0.12 | 3/10 | ||
NUCB2 | NM_005013 | 12 | c.1012c>g | p.Q338E | rs757081 | C = 0.37 | 4/10 |
13 | c.1203delACA | ΔQ402 | rs3842269 | delACA = 0.33 | 1/10 | ||
RBMX | NM_02139 | No variant of the coding portion of this gene has been detected | |||||
CARP2 | NM_057178 | No variant of the coding portion of this gene has been detected | |||||
TNFAIP3 | NM_006290 | No variant of the coding portion of this gene has been detected | |||||
ZFP36 | NM_003407 | 2 | c.447 G>A | p.K149K | Unreported | 1/10 |
↵* Reported in HapMap.
↵** Number of variant alleles out of total patients’ chromosomes investigated.
↵*** Infevers Website: http://fmf.igh.cnrs.fr/ISSAID/infevers/
↵† p = 0.0002.