From: 1Novel MEFV transcripts in Familial Mediterranean fever patients and controls
Genotype | Number of patients | 5' Splicing eventsa | 3' Splicing eventsa | |||
---|---|---|---|---|---|---|
del34 | del234 | del2345 | del7 | del78 | ||
Genetically confirmed patients | ||||||
p.[M694V]+[=] | 1 | + | + | + | ||
1 | ||||||
p.[M694I]+[=] | 1 | + | + | |||
p.[M680I]+[=] | 1 | + | + | + | + | |
p.[V726A] +[=] | 1 | + | + | |||
Heterozygous patients | ||||||
p.[M694V]+[?] | 4 | + | + | + | ||
4 | ||||||
1 | + | |||||
1 | + | + | ||||
1 | ||||||
p.[M694I]+[?] | 1 | + | + | + | ||
1 | + | |||||
p.[V726A] +[?] | 2 | + | ||||
1 | ||||||
p.[E148Q] +[?] | 3 | |||||
3 | + | + | ||||
2 | + | + | + | + | ||
1 | + | + | + | + | ||
1 | + | |||||
p.[M680I]+[?] | 1 | |||||
1 | + | + | + | |||
p.[P369S/R408Q]+[?] | 2 | + | + | + | + | |
1 | + | + | + | |||
p.[A744S]+[?] | 2 | |||||
p.[K695R]+[?] | 2 | + | + | + | ||
p.[R761H]+[?] | 1 | + | ||||
Healthy controls | ||||||
11 | + | |||||
9 | + | + | + | |||
9 | ||||||
1 | + | + | ||||
1 | + | + | ||||
1 | + | + | + | |||
1 | + | + | + | + | ||
1 | + | + | + | + | + |