TABLE 4

Alterations identified from nucleotide sequencing of gd mutant alleles

Alteration
AlleleDNAcDNAProteinConsequence
gd1
gd2G86 to AG86 to ACys29 to Tyr
gd3C362 to TC311 to TPro104 to Ser
gd4G1309 to AΔ1074-111915 aa deletionSplicing error, intron IV
gd5acceptor site
gd6T1292 to GNoneNoneWithin intron IV
G1714 to AG1397 to AGly466 to AspPoint near catalytic Ser
gd7G1768 to AG1451 to AGly484 to Asp
gd8C1665 to TC1348 to TGln450 to STOPTruncates 78 aa
gd9C1512 to TC1195 to TGln399 to STOPTruncates 129 aa
gd10G1723 to AG1406 to AGly469 to Glu
gd190G421 to AAlters splicing
gdTN124C73 to TC73 to TPro25 to Ser
gdVO27G1723 to AG1406 to AGly469 to Glu
gdVM90(717 bp deletion overlapping 5′ end)
gdLF12C892 to TC697 to TGln 233 to STOPTruncation of 295 aa
gdLi115G1164 to ATrp388 to STOPTruncation of 140 aa
gdLQ4G416 to AG364 to AGlu122 to LysSplicing altered
gdLu119C293 to TPro98 to Leu
gdn27A295 to TLys99 to STOPTruncation of 430 aa
gdp18
  • aa, amino acid.