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. 2016 Jan 11;73(6):1209–1224. doi: 10.1007/s00018-015-2117-6

Table 1.

List of EML4-ALK variants

EML4-ALK variant Gene fusion points Mutation frequency1 Cell lines Structural features References
V1 E13;A20 33 % (25 %) H3122, DFCI032, STE-1

EML4- TD, basic, HELP motif, incomplete TAPE

ALK TK

[7, 6, 51, 55]
V2 E20;A20 9 % (7.5 %)

EML4- TD, basic, HELP motif, incomplete TAPE

ALK TK

[7, 51]
E20;ins18A20 (<1 %)

EML4- TD, basic, HELP motif, incomplete TAPE

ALK TK

[108]
V3a E6a;A20 29 % (18.5 %)2 H2228

EML4- TD, basic

No HELP or TAPE

ALK TK

[51]
V3b E6b;A20 29 % (18.5 %)2 H2228

EML4- TD, basic

No HELP or TAPE

ALK TK

[6, 51]
V4 E15del60;del71A20 2 % (<1 %)

EML4- TD, basic, HELP motif, incomplete TAPE

ALK TK

[51]
V4′ E14;ins11del49A20 3 % (<1 %)3,5

EML4- TD, basic, HELP motif, incomplete TAPE

ALK TK

[52]
V5a E2;A20 2 % (<1 %)4

EML4- TD

No basic, HELP or TAPE

ALK TK

[52]
V5b E2;ins117A20 (<1 %)

EML4- TD

No basic, HELP or TAPE

ALK TK

[52]
V5′ E18;A20 2 % (<1 %)

EML4- TD, basic, HELP motif, incomplete TAPE

ALK TK

[109]
V6 E13;ins69A20 (<1 %)

EML4- TD, basic, HELP motif, incomplete TAPE

ALK TK

[110]
V7 E14;del12A20 See V4′ (<1 %)3,5

EML4- TD, basic, HELP motif, incomplete TAPE

ALK TK

[110]
V8a E17;ins30A20 (<1 %)6

EML4- TD, basic, HELP motif, incomplete TAPE

No functional ALK domain

[111]
V8b E17ins61;ins34A20 (<1 %)6

EML4- TD, basic, HELP motif, incomplete TAPE

ALK TK

[111]
E17;ins68A20 1 % (<1 %)6

EML4- TD, basic, HELP motif, incomplete TAPE

ALK TK

[108]
Unknown 19 % (45 %)

1Mutation frequency obtained from [53] and COSMIC (Catalogue of somatic mutations in cancer), shown in parentheses [112]

2Note that frequency of V3a and V3b are the same because they are splice variants

3Note that V4′ and V7 are combined in the source Ref. [53]

4Note that V5a and V5b are combined in the source Ref. [53]

5Note that COSMIC lists E14;A20 translocations, but not V4′ and V7

6Note that COSMIC lists E17;A20 translocations, but not V8a or V8b