Col4a1^Raw

ENU mutagenesis resulted in an A>G point mutation in exon 34, resulting in the replacement of a positively charged lysine residue, located at the Yaa position (950), with a negatively charged glutamic acid (p.K950E). As it is located in the first Gly-Xaa-Yaa repeat following a major interruption of the repeats by non-repeat sequence, it may affect the structure at this highly flexible site. (J:102749)