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Table 1 Germline CYLD mutations reported in patients with the CYLD cutaneous syndrome

From: The cylindromatosis (CYLD) gene and head and neck tumorigenesis

Exon Germline CYLD mutations No. of families Reference
DNA Protein
5 561-562dupT Q188Sfs 1 [23]
9 1027dupA T343Nfs 1 [20]
9 1096_1097delCA Q366Tfs 2 [20, 81]
9 1112C > A S371a 14 [1, 17, 20, 21, 8185]
9 1135G > T E379a 1 [86, 87]
10 1139-1148A > G splice site mutation 1 [20]
10 1178_1179delCA T393Rfs 1 [88]
10 1207C > T Q403 a 1 [86, 87]
10 1364_1365delAA Q455Rfs 1 [89]
10 1392_1393dupT G465Wfs 1 [23]
10 1455 T > G Y485a 1 [90]
10 1455 T > A Y485a 2 [1, 20]
10 1462delA I488Sfs 1 [25]
10 1473C > T I491I unavailable [91]
10 1518 + 2 T > C splice site mutation 1 [92]
11 1569 T > G Y523a 1 [1]
11 1628del2 S543a 1 [81]
11 1681_1682del L561Sfs 1 [1]
11 1682 T > A L561a 1 [85]
11 1684 + 1G > A splice site mutation 2 [20, 93]
12 1758insGATA M587Dfs 2 [20, 82]
12 1758ins2 M587fs 1 [81]
12 1776delA G593Afs 1 [1]
12 1783C > T Q595 a 1 [94]
12 1787G > A G596D 1 [95]
12 1821_1826 + 1del-insCT splice site mutation 1 [96]
12 1826 + 1G > A splice site mutation 1 [97]
12 1826 + 1G > T splice site mutation 2 [20, 21]
13 1830-1831insA F611Ifs 1 [1]
13 1843delT S615Lfs 1 [98]
13 1859_1860delTG V620fs 2 [1, 81]
13 1863insA L622Tfs 1 [81]
13 1893_1906delATATTATAGTGAAA E631Dfs 1 [23]
13 1925delC T642Kfs 1 [108]
13 1935dupT N646a 1 [1]
14 1950-2A > T splice site mutation 1 [23]
14 1950_1953-1delGATA splice site mutation 1 [23]
14 1961 T > A V654E 2 [26]
14 2012-2021del10 A671Dfs 1 [99]
14 2032G > T E678 a unavailable [91]
15 2041 + 1G > T splice site 1 [100]
15 2042-1G > C splice site 1 [109]
15 2042A > G D681G 1 [86, 87]
15 2065_2066delCT L689Vfs 1 [85]
15 2068_2069delTTinsC F690Lfs 1 [85]
15 2070delT H691Ifs 1 [110]
15 2081delT L694a 1 [86, 87]
15 2104delA I702a 2 [20, 90]
15 2104_2105insA I702Nfs 1 [24]
15 2108G > A R703K 1 [111]
15 2108G > C R703T 2 [20, 90]
16 2116_2117insATTAG G706Dfs 1 [112]
16 2119C > T Q707a 3 [20, 90]
16 2128C > T Q710 a 2 [25, 108]
16 2138delA Y713Sfs 1 [1]
16 2146C > A Q716K 1 [85]
16 2154insT M719Yfs 1 [81]
16 2155dupA M719Nfs 1 [20]
16 2170_2172insTC K724Ifs 3 [20, 90]
16 2172delA V725Lfs 3 [1, 15, 81]
16 2214delT F738Lfs 1 [81]
16 2240A > G E747G 2 [81, 101]
16 2240_2241delAG E747fs 1 [102]
17 2252delG C751Ffs 1 [103]
17 2255delT L752Rfs 1 [83]
17 2259dupT I754Yfs 2 [20, 21]
17 2272C > T R758a 10 [1, 18, 20, 21, 85, 104, 113]
17 2288_2289delTT F763a 1 [20]
17 2290_2294del K764Ifs 1 [81]
17 2291_2295delAACTA K764Ifs 2 [20]
17 2299A > T K767a 5 [20, 83, 90]
17 2305_2306insC I769Tfs 1 [1]
17 2305delA I769Ffs 4 [82]
17 2330_2331delTA I777Nfs 2 [20, 105]
17 2339 T > G L780a 2 [81, 82]
18 2350 + 5G > A Splice Site Mutation 2 [1, 85]
18 2355_2358delCAGA R786Sfs 1 [106]
18 2409C > G Y803a 1 [89]
18 2449delT C817Vfs 1 [114]
18 2460delC C820 a 2 [1, 11]
18 2465insAACA T822Tfs 1 [107]
18 2467C > T Q823a 1 [1]
18 2469 + 26G > A splice site mutation 1 [99]
18 2469 + 1G > A splice site mutation 2 [1, 11]
19 2546G > A W849a 1 [86, 87]
19 2552_2553insA H851Qfs 1 [115]
19 2569C > T Q857a 1 [1]
19 2602G > T E868a 2 [1, 116]
19 2613C > G H871Q# 2 [91, 117]
19 2641delG D881Tfs 1 [20]
19 2655G > A W885 a 1 [85]
19 2662_2664delTTT F888del 1 [85]
19 2666A > T D889V 1 [96]
20 2687G > C G896A 1 [118]
20 2709dupT P904Sfs 1 [119]
20 2711C > T P904L 1 [83]
20 2712delT Q905Kfs 1 [96]
20 2713C > T Q905a 1 [20]
20 2729dupC E911Rfs 3 [20, 90]
20 2806C > T R936a 13 [1, 19, 20, 22, 26, 81, 82, 91, 120]
20 2814_2817delGCTT L939Vfs 3 [20, 90]
20 2822A > T D941V 1 [25]
- 2686 + 60_a3340del5632b germline deletion 1 [85]
- 34111_a297858del378779c germline deletion 1 [121]
- 914-6398_1769del13642ins20d germline deletion 1 [121]
  1. A total of 107 germline mutations of CYLD have been reported in the literature thus far. This table summarizes the reported DNA changes, protein changes, frequency and original report of 105 germline CYLD mutations. Two additional germline mutations of CYLD were originally reported as 1862 + 2 T > G (splice site mutation) [102] and 2317G > A [122], however, the protein change cannot be interpreted by sequence analysis and are therefore not included in this table. Based on the nucleotide sequences provided by the original articles, we predicted the mutational changes on the CYLD protein using the Integrated Genomic Viewer (IGV) software (Broad Institute, USA) as italicized- based on the reference GenBank number NM_015247 for CYLD. Abbreviations: del deletion, ins insertion, dup duplicate, a = introduction of stop codon. Notes: bLarge deletion (~5.3kB) in the catalytic domain UCH region of CYLD. cLarge deletion (~13.6kB) from intron 6 to exon 12 affecting the 3rd CAP domain and beginning of the UCH domain, additionally, a 20 bp insertion was detected. dLarge deletion (0.4 MB) of entire CYLD gene and some surrounding regions