PMID: 12717091

Goto K, Sugiyama K, Sugiura T, Ando T, Mizutani F, Terabe K, Ban K, Togari H
Bile salt export pump gene mutations in two Japanese patients with progressive familial intrahepatic cholestasis.
J Pediatr Gastroenterol Nutr. 2003 May;36(5):647-50., [PubMed]
Sentences
No. Mutations Sentence Comment
72 ABCB11 p.Arg575*
X
ABCB11 p.Arg575* 12717091:72:212
status: NEW
view ABCB11 p.Arg575* details
ABCB11 p.Glu636Gly
X
ABCB11 p.Glu636Gly 12717091:72:91
status: NEW
view ABCB11 p.Glu636Gly details
ABCB11 p.Glu636Gly
X
ABCB11 p.Glu636Gly 12717091:72:250
status: NEW
view ABCB11 p.Glu636Gly details
Of the remaining three substitutions, two were also seen in some control subjects, whereas E636G was not seen in any of the control subjects. Results of genetic analyses performed on family members revealed that R575X was paternal in origin, whereas E636G was maternal in origin. None of these mutations were observed in the asymptomatic brother. Login to comment
73 ABCB11 p.Val444Ala
X
ABCB11 p.Val444Ala 12717091:73:370
status: NEW
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Table 3 summarizes the findings for patient 2. Comparison of cDNA sequences between the patient and the reference revealed five base sequence differences, resulting in four amino acid substitutions. Of the four substitutions, one was a nonsense mutation, and three were missense substitutions. Of the missense substitutions, V339L was found in all control subjects, and V444A was identified in some control subjects. Login to comment
74 ABCB11 p.Arg487His
X
ABCB11 p.Arg487His 12717091:74:9
status: NEW
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ABCB11 p.Arg487His
X
ABCB11 p.Arg487His 12717091:74:165
status: NEW
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However, R487H was not observed in any control subjects. Results of genetic analyses performed on family members revealed that V330X was paternal in origin, whereas R487H was maternal in origin. Login to comment
82 ABCB11 p.Val444Ala
X
ABCB11 p.Val444Ala 12717091:82:496
status: NEW
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ABCB11 p.Arg575*
X
ABCB11 p.Arg575* 12717091:82:585
status: NEW
view ABCB11 p.Arg575* details
ABCB11 p.Glu636Gly
X
ABCB11 p.Glu636Gly 12717091:82:698
status: NEW
view ABCB11 p.Glu636Gly details
ABCB11 p.Ala865Val
X
ABCB11 p.Ala865Val 12717091:82:789
status: NEW
view ABCB11 p.Ala865Val details
Differences between BSEP mRNA sequence of Case 1 and registered sequence, and results of genetic analyses performed on family members Nucleotide number of reference sequence Nucleotide substitutions from reference sequence Type of nucleotide Amino acid substitutions from reference sequence Familial investigation of nucleotide substitutions Frequency of alleles of non-PFIC cases 1015 G → C G Val → Leu 0/10 homo C (V339L) 10/10 1331 T → C T Val → Ala 2/10 hetero C (V444A) 8/10 1723 C → T C Arg → Stop Patient: CT Father: CT 10/10 hetero T (R575X) Mother: CC Brother: CC 0/10 1907 A → G A Glu → Gly Patient: AG Father: AA 110/110 hetero G (E636G) Mother: AG Brother: AA 0/100 2594 C → T C Ala → Val 106/110 hetero T (A865V) 4/110 3084 A → G A (-) 5/10 homo G 5/10 A, adenine; T, thymine; G, guanine; C, cytosine; Val, V, valine; Leu, L, Leucine; Ala, A, alanine; Arg, R, arginine; Glu, E, glutamate; Gly, G, glycine; homo, homozygote; hetero, heterozygote. Login to comment
86 ABCB11 p.Arg575*
X
ABCB11 p.Arg575* 12717091:86:4
status: NEW
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ABCB11 p.Glu636Gly
X
ABCB11 p.Glu636Gly 12717091:86:151
status: NEW
view ABCB11 p.Glu636Gly details
The R575X mutation seen in patient 1 of the present study is a nonsense mutation in the first nucleotide binding fold of the BSEP protein, whereas the E636G mutation is a missense mutation located between the first nucleotide binding fold and the seventh transmembrane domain. Login to comment
87 ABCB11 p.Arg487His
X
ABCB11 p.Arg487His 12717091:87:153
status: NEW
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ABCB11 p.Trp330*
X
ABCB11 p.Trp330* 12717091:87:16
status: NEW
view ABCB11 p.Trp330* details
Conversely, the W330X mutation in patient 2 is a nonsense mutation believed to be located in the fifth transmembrane domain of the BSEP protein, whereas R487H is a missense mutation located in the first nucleotide binding fold. Login to comment