. 2012 Oct 2;137(3):197–205. doi: 10.1111/j.1365-2567.2012.03627.x

Table 1.

Distribution of alterations in the amino acids sequence of the tyrosine kinase Kit (deduced from the nucleotide sequence of the 21 exons of the gene KIT) in mast cells from patients with systemic mast cell activation disease (mast cell activation syndrome and systemic mastocytosis)

					Signal transduction exons 12–21, aa 592–976

Ligand(SCF)-binding domain exons 1–5 aa 1–308	Dimerization domain exons 6–7 aa 309–410	Proteolytic cleavage site exons 8–9 aa 411–513	Membrane-spanning region exon 10 aa 514–549	Auto-inhibition exon 11 aa 550–591	Kinase domain1 Kinase insert sequence,	Kinase domain 2	C-terminus
W8R¹	D327N²	D419H/G²	*Del 510–513*¹^,²^,⁵	E554K²	Del 592–626¹	F782S¹	Frequently splicing errors¹^,²
C12S¹	E338K^1,,²	419InsFF³	Del 521¹	V559I/A/G⁶^,¹⁰	G658E²	N787D¹
L18P²	Q346L¹	Del 419³	F522C⁶	V560G²^,⁶^,¹¹	Y672S²	H790R¹
P31T²	M351E/I¹^,²	Del 417– 419InsY³	V530I⁷	D572A³	683 Ins R²	H802Y²
41 Stop codon¹	F355L¹		A533D⁶^,⁸		S688L²	814 Stop codon²
E53K¹^,²	E359V¹	C443Y³	M541L¹^,²^,³^,⁸^,⁹		S709A¹	A814V/T¹³
Del59–437¹	359 Stop codon¹	S464L²			Del 715¹^,²^,¹²	R815K⁶
E73R¹		475 Stop codon¹^,²			E720K²	Ins V815-I816⁶
T74R¹					M724I²	D816V/Y/F/H/
K116N²		S476I³			A736V¹	I³^,⁶^,¹¹
V214L²		K484R²			D751Y¹	I817V⁶
252Ins Q¹^,²		ITD501–502³			D760V²	D820G¹⁴
K259E¹		ITD502–503³			E761K²	S821F¹
H265Q¹		ITD505–508³			764 Stop codon²	N822I/K¹⁵^,¹⁶
E270K¹^,²		K509I³^,⁴				A829T¹
L276S¹						830 Stop codon²
G286R²						A837V¹
						E839K⁶
						L862V¹^,²

Ref. ²⁶;

Ref. ²⁵;

Ref. ¹⁸;

⁴

Ref. ⁶⁸;

⁵

Ref. ⁴³;

⁶

Ref. ²⁷;

⁷

Ref. ⁷⁴;

⁸

Ref. ¹⁷;

⁹

Ref. ¹⁹;

¹⁰

Ref. ⁶⁴;

¹¹

Ref. ⁷⁵;

¹²

Ref. ⁴⁵;

¹³

Ref. ⁷⁶;

¹⁴

Ref. ⁷⁷;

¹⁵

Ref. ²⁰;

¹⁶

Ref. ⁷⁸.

Three isoforms resulting from alternative splicing are indicated by italic type. Mutations which have been demonstrated to induce an increased mast cell activity are indicated by bold type. aa, amino acid; SCF, stem cell factor.