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PMID: 16847695
Nies AT, Keppler D
The apical conjugate efflux pump ABCC2 (MRP2).
Pflugers Arch. 2007 Feb;453(5):643-59. Epub 2006 Jul 18.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
139
ABCC2 p.Arg768Trp
X
ABCC2 p.Arg768Trp 16847695:139:1825
status:
NEW
view ABCC2 p.Arg768Trp details
ABCC2 p.Arg1150His
X
ABCC2 p.Arg1150His 16847695:139:2664
status:
NEW
view ABCC2 p.Arg1150His details
ABCC2 p.Val417Ile
X
ABCC2 p.Val417Ile 16847695:139:1174
status:
NEW
view ABCC2 p.Val417Ile details
ABCC2 p.Lys1299Gln
X
ABCC2 p.Lys1299Gln 16847695:139:3412
status:
NEW
view ABCC2 p.Lys1299Gln details
ABCC2 p.Arg353His
X
ABCC2 p.Arg353His 16847695:139:950
status:
NEW
view ABCC2 p.Arg353His details
ABCC2 p.Ser789Phe
X
ABCC2 p.Ser789Phe 16847695:139:1948
status:
NEW
view ABCC2 p.Ser789Phe details
ABCC2 p.Val1188Glu
X
ABCC2 p.Val1188Glu 16847695:139:3053
status:
NEW
view ABCC2 p.Val1188Glu details
ABCC2 p.Ile1173Phe
X
ABCC2 p.Ile1173Phe 16847695:139:2759
status:
NEW
view ABCC2 p.Ile1173Phe details
ABCC2 p.Asn718Ser
X
ABCC2 p.Asn718Ser 16847695:139:1711
status:
NEW
view ABCC2 p.Asn718Ser details
ABCC2 p.Gln1382Arg
X
ABCC2 p.Gln1382Arg 16847695:139:3564
status:
NEW
view ABCC2 p.Gln1382Arg details
ABCC2 p.Leu849Arg
X
ABCC2 p.Leu849Arg 16847695:139:2035
status:
NEW
view ABCC2 p.Leu849Arg details
ABCC2 p.Arg1174His
X
ABCC2 p.Arg1174His 16847695:139:2908
status:
NEW
view ABCC2 p.Arg1174His details
ABCC2 p.Asp333Gly
X
ABCC2 p.Asp333Gly 16847695:139:867
status:
NEW
view ABCC2 p.Asp333Gly details
ABCC2 p.Arg1181Leu
X
ABCC2 p.Arg1181Leu 16847695:139:2968
status:
NEW
view ABCC2 p.Arg1181Leu details
ABCC2 p.Asn1244Lys
X
ABCC2 p.Asn1244Lys 16847695:139:3128
status:
NEW
view ABCC2 p.Asn1244Lys details
ABCC2 p.Pro1291Leu
X
ABCC2 p.Pro1291Leu 16847695:139:3327
status:
NEW
view ABCC2 p.Pro1291Leu details
ABCC2 p.Ile1036Thr
X
ABCC2 p.Ile1036Thr 16847695:139:2440
status:
NEW
view ABCC2 p.Ile1036Thr details
ABCC2 p.Ile670Thr
X
ABCC2 p.Ile670Thr 16847695:139:1537
status:
NEW
view ABCC2 p.Ile670Thr details
ABCC2 p.Thr486Ile
X
ABCC2 p.Thr486Ile 16847695:139:1307
status:
NEW
view ABCC2 p.Thr486Ile details
ABCC2 p.Arg393Trp
X
ABCC2 p.Arg393Trp 16847695:139:1022
status:
NEW
view ABCC2 p.Arg393Trp details
ABCC2 p.Trp709Arg
X
ABCC2 p.Trp709Arg 16847695:139:1656
status:
NEW
view ABCC2 p.Trp709Arg details
ABCC2 p.Thr1273Ala
X
ABCC2 p.Thr1273Ala 16847695:139:3188
status:
NEW
view ABCC2 p.Thr1273Ala details
ABCC2 p.Gly676Arg
X
ABCC2 p.Gly676Arg 16847695:139:1601
status:
NEW
view ABCC2 p.Gly676Arg details
ABCC2 p.Arg412Gly
X
ABCC2 p.Arg412Gly 16847695:139:1082
status:
NEW
view ABCC2 p.Arg412Gly details
ABCC2 p.Gln1019His
X
ABCC2 p.Gln1019His 16847695:139:2391
status:
NEW
view ABCC2 p.Gln1019His details
ABCC2 p.Ser1367Cys
X
ABCC2 p.Ser1367Cys 16847695:139:3504
status:
NEW
view ABCC2 p.Ser1367Cys details
ABCC2 p.Asp883Asn
X
ABCC2 p.Asp883Asn 16847695:139:2109
status:
NEW
view ABCC2 p.Asp883Asn details
ABCC2 p.Lys961Arg
X
ABCC2 p.Lys961Arg 16847695:139:2202
status:
NEW
view ABCC2 p.Lys961Arg details
ABCC2 p.Arg100Gln
X
ABCC2 p.Arg100Gln 16847695:139:687
status:
NEW
view ABCC2 p.Arg100Gln details
ABCC2 p.Pro19Leu
X
ABCC2 p.Pro19Leu 16847695:139:525
status:
NEW
view ABCC2 p.Pro19Leu details
ABCC2 p.Ser281Asn
X
ABCC2 p.Ser281Asn 16847695:139:815
status:
NEW
view ABCC2 p.Ser281Asn details
ABCC2 p.Glu893Gln
X
ABCC2 p.Glu893Gln 16847695:139:2157
status:
NEW
view ABCC2 p.Glu893Gln details
ABCC2 p.Leu739Phe
X
ABCC2 p.Leu739Phe 16847695:139:1766
status:
NEW
view ABCC2 p.Leu739Phe details
ABCC2 p.Lys495Glu
X
ABCC2 p.Lys495Glu 16847695:139:1380
status:
NEW
view ABCC2 p.Lys495Glu details
ABCC2 p.Met246Leu
X
ABCC2 p.Met246Leu 16847695:139:744
status:
NEW
view ABCC2 p.Met246Leu details
ABCC2 p.Asn1063Ser
X
ABCC2 p.Asn1063Ser 16847695:139:2525
status:
NEW
view ABCC2 p.Asn1063Ser details
ABCC2 p.Ile982Val
X
ABCC2 p.Ile982Val 16847695:139:2317
status:
NEW
view ABCC2 p.Ile982Val details
ABCC2 p.Phe562Leu
X
ABCC2 p.Phe562Leu 16847695:139:1464
status:
NEW
view ABCC2 p.Phe562Leu details
ABCC9 p.Phe39Tyr
X
ABCC9 p.Phe39Tyr 16847695:139:581
status:
NEW
view ABCC9 p.Phe39Tyr details
Although all sequence variants associated with Dubin-Johnson syndrome result in the absence of a Table 3 Nucleotide sequence variants in the human ABCC2 gene (NM_000392) leading to amino acid changes in the ABCC2/MRP2 protein (NP_000383) Location Nucleotide changea Deduced effect on proteina Causing Dubin-Johnson syndromeb Predicted effect by PolyPhen databasec Experimentally proven functional consequence Average frequency of indicated nucleotide exchange in population NCBI SNP IDd and/or references Exon 2 c.56 C>Te p.
P19L
Probably damaging T: 0.007 [63] Exon 2 c.116 T>A p.
F39Y
Benign A: 0.010 rs927344 A: 0.008 rs17222603 Exon 3 c.298 C>T p.R100Xf DJS [154] Exon 3 c.299 G>Ae p.
R100Q
Possibly damaging A: 0.007 [63] Exon 7 c.736 A>C p.
M246L
Benign C: 0.002 rs8187667 C: 0.002 rs17222744 Exon 7 c.842 G>A p.
S281N
Benign A: 0.0060.056 [117] Exon 8 c.998 A>G p.
D333G
Possibly damaging G: 0.002 rs8187668 G: 0.004 rs17222674 Exon 9 c.1058 G>A p.
R353H
Benign A: 0.009 rs7080681 A: 0.014 rs17216205 Exon 9 c.1177 C>T p.
R393W
DJS Probably damaging [104, 112] Exon 10 c.1234 A>G p.
R412G
Probably damaging Deficient methotrexate transport function [56] Exon 10 c.1249 G>A p.
V417I
Benign None apparent [50] A: 0.163 rs2273697, [146] A: 0.158 rs17216184 A: 0.125 [62] A: 0.1830.312 [117] Exon 10 c.1457 C>T p.
T486I
Benign T: 0.002 rs8187670 T: 0.002 rs17222589 Exon 11 c.1483 A>G p.
K495E
Possibly damaging G: 0.002 rs8187672 G: 0.002 rs17222561 Exon 13 c.1686 T>G p.
F562L
Benign G: 0.002 rs8187673 G: 0.002 rs17216233 Exon 16 c.2009 T>C p.
I670T
Benign rs8187676 C: 0.006 rs17222632 Exon 16 c.2026 G>C p.
G676R
DJS Probably damaging [181] Exon 17 c.2125 T>C p.
W709R
DJS Probably damaging [111] Exon 17 c.2153 A>G p.
N718S
Possibly damaging rs3740072 Exon 17 c.2215 C>T p.
L739F
Probably damaging T: 0.006 [51] Exon 18 c.2302 C>T p.
R768W
DJS Probably damaging Deficient maturation and impaired sorting [47] T: 0.010 [62] [168, 180] Exon 18 c.2366 C>T p.
S789F
Probably damaging Reduced protein levels [50] T: 0.010 [62] Exon 19 c.2546 T>G p.
L849R
Benign G: 0.002 rs8187689 G: 0.006 rs17222617 Exon 20 c.2647 G>Ae p.
D883N
Benign A: 0.007 [63] Exon 20 c.2677 G>C p.
E893Q
Benign rs3740071 Exon 21 c.2882 A>Ge p.
K961R
Benign G: 0.007 [63] Exon 22 c.2901 C>A p.Y967Xf A: 0.002 rs8187683 A: 0.002 rs17222547 Exon 22 c.2944 A>G p.
I982V
Benign G: 0.002 rs8187684 G: 0.002 rs17222554 Exon 22 c.3057 G>Te p.
Q1019H
Benign T: 0.007 [63] Exon 23 c.3107 T>C p.
I1036T
Possibly damaging C: 0.002 rs8187685 C: 0.004 rs17216149 Exon 23 c.3188 A>G p.
N1063S
Benign G: 0.002 rs8187686 G: 0.002 rs17222540 Exon 23 c.3196 C>T p.R1066Xf DJS No ABCC2 protein in liver [134] Exon 25 c.3449 G>A p.
R1150H
DJS Probably damaging Deficient transport function A: 00.009 [117] Exon 25 c.3517 A>T p.
I1173F
DJS Probably damaging Deficient maturation and impaired sorting, deficient transport function T: 00.029 [117] [80, 117] Exon 25 c.3521 G>Ae p.
R1174H
Probably damaging A: 0.007 [63] Exon 25 c.3542 G>T p.
R1181L
Possibly damaging T: 0.039 rs8187692 T: 0.034 rs17222702 Exon 25 c.3563 T>A p.
V1188E
Benign A: 0.059 rs8187694 A: 0.059 rs17222723 Exon 26 c.3732 T>Ge p.
N1244K
Possibly damaging G: 0.014 [63] Exon 27 c.3817 A>G p.
T1273A
Benign G: 0.002 rs8187699 G: 0.004 rs17222582 Exon 27 c.3825 C>G p.Y1275Xf DJS No ABCC2 protein in liver [104] Exon 28 c.3872 C>T p.
P1291L
Possibly damaging T: 0.012 rs8187700 T: 0.010 rs17216317 Exon 28 c.3895 A>C p.
K1299Q
Benign rs4148400, [146] Exon 28 c.3928 C>T p.R1310Xf DJS [166] Exon 29 c.4100 C>Ge p.
S1367C
Possibly damaging G: 0.007 [63] Exon 29 c.4145 A>G p.
Q1382R
DJS Probably Deficient [47, 168] Table 3 (continued) Location Nucleotide changea Deduced effect on proteina Causing Dubin-Johnson syndromeb Predicted effect by PolyPhen databasec Experimentally proven functional consequence Average frequency of indicated nucleotide exchange in population NCBI SNP IDd and/or references functionally active ABCC2 protein from the canalicular membrane, their effects on the synthesis and function of the ABCC2 protein differ.
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140
ABCC2 p.Arg768Trp
X
ABCC2 p.Arg768Trp 16847695:140:1825
status:
NEW
view ABCC2 p.Arg768Trp details
ABCC2 p.Arg1150His
X
ABCC2 p.Arg1150His 16847695:140:2664
status:
NEW
view ABCC2 p.Arg1150His details
ABCC2 p.Val417Ile
X
ABCC2 p.Val417Ile 16847695:140:1174
status:
NEW
view ABCC2 p.Val417Ile details
ABCC2 p.Lys1299Gln
X
ABCC2 p.Lys1299Gln 16847695:140:3412
status:
NEW
view ABCC2 p.Lys1299Gln details
ABCC2 p.Arg353His
X
ABCC2 p.Arg353His 16847695:140:950
status:
NEW
view ABCC2 p.Arg353His details
ABCC2 p.Ser789Phe
X
ABCC2 p.Ser789Phe 16847695:140:1948
status:
NEW
view ABCC2 p.Ser789Phe details
ABCC2 p.Val1188Glu
X
ABCC2 p.Val1188Glu 16847695:140:3053
status:
NEW
view ABCC2 p.Val1188Glu details
ABCC2 p.Ile1173Phe
X
ABCC2 p.Ile1173Phe 16847695:140:2759
status:
NEW
view ABCC2 p.Ile1173Phe details
ABCC2 p.Asn718Ser
X
ABCC2 p.Asn718Ser 16847695:140:1711
status:
NEW
view ABCC2 p.Asn718Ser details
ABCC2 p.Gln1382Arg
X
ABCC2 p.Gln1382Arg 16847695:140:3564
status:
NEW
view ABCC2 p.Gln1382Arg details
ABCC2 p.Leu849Arg
X
ABCC2 p.Leu849Arg 16847695:140:2035
status:
NEW
view ABCC2 p.Leu849Arg details
ABCC2 p.Arg1174His
X
ABCC2 p.Arg1174His 16847695:140:2908
status:
NEW
view ABCC2 p.Arg1174His details
ABCC2 p.Asp333Gly
X
ABCC2 p.Asp333Gly 16847695:140:867
status:
NEW
view ABCC2 p.Asp333Gly details
ABCC2 p.Arg1181Leu
X
ABCC2 p.Arg1181Leu 16847695:140:2968
status:
NEW
view ABCC2 p.Arg1181Leu details
ABCC2 p.Asn1244Lys
X
ABCC2 p.Asn1244Lys 16847695:140:3128
status:
NEW
view ABCC2 p.Asn1244Lys details
ABCC2 p.Pro1291Leu
X
ABCC2 p.Pro1291Leu 16847695:140:3327
status:
NEW
view ABCC2 p.Pro1291Leu details
ABCC2 p.Ile1036Thr
X
ABCC2 p.Ile1036Thr 16847695:140:2440
status:
NEW
view ABCC2 p.Ile1036Thr details
ABCC2 p.Ile670Thr
X
ABCC2 p.Ile670Thr 16847695:140:1537
status:
NEW
view ABCC2 p.Ile670Thr details
ABCC2 p.Thr486Ile
X
ABCC2 p.Thr486Ile 16847695:140:1307
status:
NEW
view ABCC2 p.Thr486Ile details
ABCC2 p.Arg393Trp
X
ABCC2 p.Arg393Trp 16847695:140:1022
status:
NEW
view ABCC2 p.Arg393Trp details
ABCC2 p.Trp709Arg
X
ABCC2 p.Trp709Arg 16847695:140:1656
status:
NEW
view ABCC2 p.Trp709Arg details
ABCC2 p.Thr1273Ala
X
ABCC2 p.Thr1273Ala 16847695:140:3188
status:
NEW
view ABCC2 p.Thr1273Ala details
ABCC2 p.Gly676Arg
X
ABCC2 p.Gly676Arg 16847695:140:1601
status:
NEW
view ABCC2 p.Gly676Arg details
ABCC2 p.Arg412Gly
X
ABCC2 p.Arg412Gly 16847695:140:1082
status:
NEW
view ABCC2 p.Arg412Gly details
ABCC2 p.Gln1019His
X
ABCC2 p.Gln1019His 16847695:140:2391
status:
NEW
view ABCC2 p.Gln1019His details
ABCC2 p.Ser1367Cys
X
ABCC2 p.Ser1367Cys 16847695:140:3504
status:
NEW
view ABCC2 p.Ser1367Cys details
ABCC2 p.Asp883Asn
X
ABCC2 p.Asp883Asn 16847695:140:2109
status:
NEW
view ABCC2 p.Asp883Asn details
ABCC2 p.Lys961Arg
X
ABCC2 p.Lys961Arg 16847695:140:2202
status:
NEW
view ABCC2 p.Lys961Arg details
ABCC2 p.Arg100Gln
X
ABCC2 p.Arg100Gln 16847695:140:687
status:
NEW
view ABCC2 p.Arg100Gln details
ABCC2 p.Pro19Leu
X
ABCC2 p.Pro19Leu 16847695:140:525
status:
NEW
view ABCC2 p.Pro19Leu details
ABCC2 p.Ser281Asn
X
ABCC2 p.Ser281Asn 16847695:140:815
status:
NEW
view ABCC2 p.Ser281Asn details
ABCC2 p.Glu893Gln
X
ABCC2 p.Glu893Gln 16847695:140:2157
status:
NEW
view ABCC2 p.Glu893Gln details
ABCC2 p.Leu739Phe
X
ABCC2 p.Leu739Phe 16847695:140:1766
status:
NEW
view ABCC2 p.Leu739Phe details
ABCC2 p.Lys495Glu
X
ABCC2 p.Lys495Glu 16847695:140:1380
status:
NEW
view ABCC2 p.Lys495Glu details
ABCC2 p.Met246Leu
X
ABCC2 p.Met246Leu 16847695:140:744
status:
NEW
view ABCC2 p.Met246Leu details
ABCC2 p.Asn1063Ser
X
ABCC2 p.Asn1063Ser 16847695:140:2525
status:
NEW
view ABCC2 p.Asn1063Ser details
ABCC2 p.Ile982Val
X
ABCC2 p.Ile982Val 16847695:140:2317
status:
NEW
view ABCC2 p.Ile982Val details
ABCC2 p.Phe562Leu
X
ABCC2 p.Phe562Leu 16847695:140:1464
status:
NEW
view ABCC2 p.Phe562Leu details
ABCC9 p.Phe39Tyr
X
ABCC9 p.Phe39Tyr 16847695:140:581
status:
NEW
view ABCC9 p.Phe39Tyr details
Although all sequence variants associated with Dubin-Johnson syndrome result in the absence of a Table 3 Nucleotide sequence variants in the human ABCC2 gene (NM_000392) leading to amino acid changes in the ABCC2/MRP2 protein (NP_000383) Location Nucleotide changea Deduced effect on proteina Causing Dubin-Johnson syndromeb Predicted effect by PolyPhen databasec Experimentally proven functional consequence Average frequency of indicated nucleotide exchange in population NCBI SNP IDd and/or references Exon 2 c.56 C>Te p.
P19L
Probably damaging T: 0.007 [63] Exon 2 c.116 T>A p.
F39Y
Benign A: 0.010 rs927344 A: 0.008 rs17222603 Exon 3 c.298 C>T p.R100Xf DJS [154] Exon 3 c.299 G>Ae p.
R100Q
Possibly damaging A: 0.007 [63] Exon 7 c.736 A>C p.
M246L
Benign C: 0.002 rs8187667 C: 0.002 rs17222744 Exon 7 c.842 G>A p.
S281N
Benign A: 0.0060.056 [117] Exon 8 c.998 A>G p.
D333G
Possibly damaging G: 0.002 rs8187668 G: 0.004 rs17222674 Exon 9 c.1058 G>A p.
R353H
Benign A: 0.009 rs7080681 A: 0.014 rs17216205 Exon 9 c.1177 C>T p.
R393W
DJS Probably damaging [104, 112] Exon 10 c.1234 A>G p.
R412G
Probably damaging Deficient methotrexate transport function [56] Exon 10 c.1249 G>A p.
V417I
Benign None apparent [50] A: 0.163 rs2273697, [146] A: 0.158 rs17216184 A: 0.125 [62] A: 0.1830.312 [117] Exon 10 c.1457 C>T p.
T486I
Benign T: 0.002 rs8187670 T: 0.002 rs17222589 Exon 11 c.1483 A>G p.
K495E
Possibly damaging G: 0.002 rs8187672 G: 0.002 rs17222561 Exon 13 c.1686 T>G p.
F562L
Benign G: 0.002 rs8187673 G: 0.002 rs17216233 Exon 16 c.2009 T>C p.
I670T
Benign rs8187676 C: 0.006 rs17222632 Exon 16 c.2026 G>C p.
G676R
DJS Probably damaging [181] Exon 17 c.2125 T>C p.
W709R
DJS Probably damaging [111] Exon 17 c.2153 A>G p.
N718S
Possibly damaging rs3740072 Exon 17 c.2215 C>T p.
L739F
Probably damaging T: 0.006 [51] Exon 18 c.2302 C>T p.
R768W
DJS Probably damaging Deficient maturation and impaired sorting [47] T: 0.010 [62] [168, 180] Exon 18 c.2366 C>T p.
S789F
Probably damaging Reduced protein levels [50] T: 0.010 [62] Exon 19 c.2546 T>G p.
L849R
Benign G: 0.002 rs8187689 G: 0.006 rs17222617 Exon 20 c.2647 G>Ae p.
D883N
Benign A: 0.007 [63] Exon 20 c.2677 G>C p.
E893Q
Benign rs3740071 Exon 21 c.2882 A>Ge p.
K961R
Benign G: 0.007 [63] Exon 22 c.2901 C>A p.Y967Xf A: 0.002 rs8187683 A: 0.002 rs17222547 Exon 22 c.2944 A>G p.
I982V
Benign G: 0.002 rs8187684 G: 0.002 rs17222554 Exon 22 c.3057 G>Te p.
Q1019H
Benign T: 0.007 [63] Exon 23 c.3107 T>C p.
I1036T
Possibly damaging C: 0.002 rs8187685 C: 0.004 rs17216149 Exon 23 c.3188 A>G p.
N1063S
Benign G: 0.002 rs8187686 G: 0.002 rs17222540 Exon 23 c.3196 C>T p.R1066Xf DJS No ABCC2 protein in liver [134] Exon 25 c.3449 G>A p.
R1150H
DJS Probably damaging Deficient transport function A: 00.009 [117] Exon 25 c.3517 A>T p.
I1173F
DJS Probably damaging Deficient maturation and impaired sorting, deficient transport function T: 00.029 [117] [80, 117] Exon 25 c.3521 G>Ae p.
R1174H
Probably damaging A: 0.007 [63] Exon 25 c.3542 G>T p.
R1181L
Possibly damaging T: 0.039 rs8187692 T: 0.034 rs17222702 Exon 25 c.3563 T>A p.
V1188E
Benign A: 0.059 rs8187694 A: 0.059 rs17222723 Exon 26 c.3732 T>Ge p.
N1244K
Possibly damaging G: 0.014 [63] Exon 27 c.3817 A>G p.
T1273A
Benign G: 0.002 rs8187699 G: 0.004 rs17222582 Exon 27 c.3825 C>G p.Y1275Xf DJS No ABCC2 protein in liver [104] Exon 28 c.3872 C>T p.
P1291L
Possibly damaging T: 0.012 rs8187700 T: 0.010 rs17216317 Exon 28 c.3895 A>C p.
K1299Q
Benign rs4148400, [146] Exon 28 c.3928 C>T p.R1310Xf DJS [166] Exon 29 c.4100 C>Ge p.
S1367C
Possibly damaging G: 0.007 [63] Exon 29 c.4145 A>G p.
Q1382R
DJS Probably Deficient [47, 168] Table 3 (continued) Location Nucleotide changea Deduced effect on proteina Causing Dubin-Johnson syndromeb Predicted effect by PolyPhen databasec Experimentally proven functional consequence Average frequency of indicated nucleotide exchange in population NCBI SNP IDd and/or references functionally active ABCC2 protein from the canalicular membrane, their effects on the synthesis and function of the ABCC2 protein differ.
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151
ABCC2 p.Cys1515Tyr
X
ABCC2 p.Cys1515Tyr 16847695:151:679
status:
NEW
view ABCC2 p.Cys1515Tyr details
ABCC2 p.Ala1450Thr
X
ABCC2 p.Ala1450Thr 16847695:151:537
status:
NEW
view ABCC2 p.Ala1450Thr details
ABCC2 p.Thr1477Met
X
ABCC2 p.Thr1477Met 16847695:151:630
status:
NEW
view ABCC2 p.Thr1477Met details
These Abcc2-deficient mice are apparently healthy and fertile, as are Table 3 (continued) Location Nucleotide changea Deduced effect on proteina Causing Dubin-Johnson syndromeb Predicted effect by PolyPhen databasec Experimentally proven functional consequence Average frequency of indicated nucleotide exchange in population NCBI SNP IDd and/or references damaging transport function [47] Exon 30 c.4175_4180del6 p.R1392_M1393del2 DJS No ABCC2 protein in liver [170] Impaired sorting and trafficking [79] [79, 170] Exon 31 c.4348 G>A p.
A1450T
Possibly damaging Reduced protein levels [50] T: 0.010 [62] [62] Exon 31 c.4430 C>T p.
T1477M
Benign T: 0.006 [51] Exon 32 c.4544 G>A p.
C1515Y
Benign A: 0.047 rs8187710 A: 0.116 rs17222568 NCBI National Center for Biotechnology Information, SNP single nucleotide polymorphism, DJS Dubin-Johnson syndrome a As recommended by the Human Genome Variation Society (http://www.hgvs.org/mutnomen) and by ref [26], nucleotide position +1 is the A of the ATG of the translation initiation codon in the ABCC2 cDNA sequence, "c."
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152
ABCC2 p.Cys1515Tyr
X
ABCC2 p.Cys1515Tyr 16847695:152:679
status:
NEW
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ABCC2 p.Ala1450Thr
X
ABCC2 p.Ala1450Thr 16847695:152:537
status:
NEW
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ABCC2 p.Thr1477Met
X
ABCC2 p.Thr1477Met 16847695:152:630
status:
NEW
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These Abcc2-deficient mice are apparently healthy and fertile, as are Table 3 (continued) Location Nucleotide changea Deduced effect on proteina Causing Dubin-Johnson syndromeb Predicted effect by PolyPhen databasec Experimentally proven functional consequence Average frequency of indicated nucleotide exchange in population NCBI SNP IDd and/or references damaging transport function [47] Exon 30 c.4175_4180del6 p.R1392_M1393del2 DJS No ABCC2 protein in liver [170] Impaired sorting and trafficking [79] [79, 170] Exon 31 c.4348 G>A p.
A1450T
Possibly damaging Reduced protein levels [50] T: 0.010 [62] [62] Exon 31 c.4430 C>T p.
T1477M
Benign T: 0.006 [51] Exon 32 c.4544 G>A p.
C1515Y
Benign A: 0.047 rs8187710 A: 0.116 rs17222568 NCBI National Center for Biotechnology Information, SNP single nucleotide polymorphism, DJS Dubin-Johnson syndrome a As recommended by the Human Genome Variation Society (http://www.hgvs.org/mutnomen) and by ref [26], nucleotide position +1 is the A of the ATG of the translation initiation codon in the ABCC2 cDNA sequence, "c."
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