DAU cluster

DesignationISBT nameHaplotypePhenotypeMechanismAlterationsFirst mentionDefinitive publication
DAU-13RHD*10.13
RHD*DAU13
cDeMultiple missense mutations1136C>T (T379M)
48G>C (W16C)
2013
DAU-0RHD*10.00
RHD*DAU0
cDeD positive (apparently normal)
Partial D
Single missense mutation1136C>T (T379M)
20022002
DAU-0.1RHD*10.00.01
RHD*DAU0.01
cDeMultiple missense mutations1136C>T (T379M)
579G>A
20032003
DAU-1RHD*10.01
RHD*DAU1
cDePartial DMultiple missense mutations1136C>T (T379M)
689G>T (S230I)
20022002
DAU-2RHD*10.02
RHD*DAU2
cDePartial D
weakened D expression
Multiple missense mutations1136C>T (T379M)
209G>A (R70Q)
998G>A (S333N)
20022002
DAU-3RHD*10.03
RHD*DAU3
cDePartial DMultiple missense mutations1136C>T (T379M)
835G>A (V279M)
20022002
DAU-4RHD*10.04
RHD*DAU4
cDePartial D
weakened D expression
Multiple missense mutations1136C>T (T379M)
697G>A (E233K)
20022002
DAU-5RHD*10.05
RHD*DAU5
cDePartial DMultiple missense mutations1136C>T (T379M)
667T>G (F223V)
697G>C (E233Q)
20052005
DAU-6RHD*10.06
RHD*DAU6
cDePartial DMultiple missense mutations1136C>T (T379M)
998G>A (S333N)
20052005
DAU-7RHD*10.07
RHD*DAU7
cDePartial DSingle missense mutation1136C>T (T379M)
835G>A (V279M)
998G>A (S333N)
20092009
RHD(201A,203A,1136T)not reportedMultiple missense mutations1136C>T (T379M)
201G>A
203G>A (S68N)
2014
DAU-11RHD*10.11
RHD*DAU11
cDeweakened D expressionMultiple missense mutations1136C>T (T379M)
254C>T (A85V)
835G>A (V279M)
20122016
DAU-9RHD*10.09
RHD*DAU9
not reportedD positive (no further data)Multiple missense mutations1136C>T (T379M)
535T>C (F179L)
20122012
DAU-5.1RHD*10.05.01
RHD*DAU5.01
cDeweakened D expressionMultiple missense mutations1122C>T (I374I)
1136C>T (T379M)
667T>G (F223V)
697G>C (E233Q)
20142016
RHD(IVS4+1G>T,1136C>T)RHD*01N.69not reportedD negativeSplice site mutation1136C>T (T379M)
IVS4+1G>T
DAU-12RHD*10.12
RHD*DAU12
cDeMultiple missense mutations1136C>T (T379M)
542T>C (L181P)
2012
RHD(M1V,T379M)RHD*10.15
RHD*DAU15
not reportedComplex changes1136C>T (T379M)
1A>G (M1V)
2008
DAU-8RHD*10.08
RHD*DAU8
not reportedD positive (no further data)Multiple missense mutations1136C>T (T379M)
340C>T (R114W)
579G>A
20122012
DAU-14RHD*10.14
RHD*DAU14
cDeD positive (no further data)Multiple missense mutations1136C>T (T379M)
201G>A
203G>A (S68N)
20142014
DAU-10RHD*10.10
RHD*DAU10
not reportedD positive (no further data)Multiple missense mutations1136C>T (T379M)
579G>A
739G>C (V247L)
20122012