Sequence analysis identified the spontaneous deletion of asparagine codon 139 or 140, through the deletion of CAA / ACA / AAC from the AACAACAA sequence at codong nucleotides 415-422. The deleted codon is located in the alpha-helical rod domain. This molecular lesion is the same that has been identified in Krt71Ca-Rin, Krt71Ca-9J, and Krt71Ca-10J. (J:86407)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count