Amino acid replacement: D277N.
Nucleotide substitution: G1149A.
Revision of data reported in FBrf0111813.
G16269434A
G1149A
C12156939T
D277N | Khc-PA
D277N
Reported base location of mutation is relative to noncoding strand.
Hemizygotes sometimes survive to adulthood.
Stated to be lost.