Kitl^Sl-5R

Sequence analysis revealed an in-frame deletion of 6 nucleotides (AACTAT) at coding nucleotides 166-171 (transcript NM_013598) resulting in loss of asparagine 31 and tyrosine 32 (p.N31_Y32del on mature protein or p.N56_Y57del on pre-protein). These residues are located in the extracellular domain and are part of the beta strand structure between the first 2 alpha helical domains. (J:82263)