Note: The original file submitted is modified to provide links to the results.
protein in the intracellular portion, with clustering in two
restricted C-terminal regions (Fig. 1).
reported. Our recent results indicated an essential role
for both the CRD
TABLE 1. Mutations Identi¢ed in the ROR2 Gene in PatientsWith Recessive Robinow Syndrome and BrachydactylyType B1
Origin/no. of families DNA Exon Protein Phenotype Reference
Turkey 545G>A 5 C182Y RRS 4nn
Brazil 550C>T 5 R184C RRS 2
Pakistann 565C>T 5 R189W RRS 2
TurkeyX3 613C>T 5 R205X RRS 4
Pakistann 1096C>T 7 R366W RRS 2
Turkey 1189C>T 8 R397X RRS 4nn
Turkey 1321_1325del 8 R441fsX15w BDB1; RRS 3
Germany IVS8+3_5delins19 Splice donor site of
intron 8
A463fsX64w BDB1 3
GermanyX2 1398_1399insA 9 Q467fsX57w BDB1 3
Oman 1504C>T 9 Q502X RRS 2
Pakistan 1740_1774del 9 D580fsX124w RRS 4
Turkey 1860T>A 9 N620K RRS 2
Turkey 2160G>A 9 W720X RRS 4
Germany 2246G>A 9 W749X BDB1 1
Portugal 2249delG 9 G750fsX23 BDB1 1
EnglandX3 2265C>A 9 Y755X BDB1 1
Germany 2278C>T 9 Q760X BDB1 3
Polymorphisms 498T>C 5 ^ 3
733G>A 6 A245T 3
2088C>T 9 ^ 1
2154C>T 9 ^ 3
2455G>A 9 V819I 1
2848G>A
3004_3007del
99
30 non-coding
30 non-coding
Nucleotide numbering is in relation to a cDNA reference sequence (GenBankM97639.1) with theAof the initiatormethionine codon denoted as nucleotide
+1.