This allele determines a faster migrating variant of the encoded enzyme and occurs in the wild and in strains BUB/Bn, CBA/J, CBA/CaJ, C3H/HeH, C3Heb/FeJ, C57BL/6J, C57BL/6J-ob, SEA/GJ and SWR/J. Sequencing analysis identified four nucleotide differences between this allele and Gpi1a. Two differences were silent, while a third difference at nucleotide position 282 predicts an aspartate for the a allele and an asparagine for the b allele at amino acid position 94. A fourth difference in the 3' untranslated region was also noted. (J:28033)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count