An 11 bp deletion occurs in this mutant, either between bp 2124 and 2134 or between 2129 and 2139. This deletion causes a frame shift which creates a premature stop codon. The resulting protein is 230 amino acids in length as opposed to 495 amino acids for a normal protein. The cytosolic N-terminal, first transmembrane segment and extracellular loop of the protein are preserved. (J:89910)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count