PMID: 11139250

Perdu J, Germain DP
Identification of novel polymorphisms in the pM5 and MRP1 (ABCC1) genes at locus 16p13.1 and exclusion of both genes as responsible for pseudoxanthoma elasticum.
Hum Mutat. 2001;17(1):74-5., [PubMed]
Sentences
No. Mutations Sentence Comment
5 ABCC1 p.Ser1512Leu
X
ABCC1 p.Ser1512Leu 11139250:5:83
status: NEW
view ABCC1 p.Ser1512Leu details
 Analysis of the MRP1 transcript lead to the discovery of two polymorphisms (T117M, S1512L). Login to comment 50 ABCC1 p.Ser1512Leu
X
ABCC1 p.Ser1512Leu 11139250:50:443
status: NEW
view ABCC1 p.Ser1512Leu details
 Allele designation Codon change Predicted amino acid change Frequency in population* pM5 gene c696C>G GGC > GGG G232G 0.50 c1185A>G CCA > CCG P395P 0.50 c1210G>A GTT > ATT V404I 0.50 c1374C>A AAC > AAA N458K 0.22 c1468G>A GAC > AAC D490N 0.16 c2586G>A GCG > GCA A862A 0.50 c2736A>C GGA > GGC G912G 1 c3318T>C GAT > GAC D1106D ND c3421T>A TTC > ATC F1141I 1 c3583G>C GGC > CGC G1195R 0.50 MRP1 gene c350T>C ACG > ATG T117M 1 c4535C>T TCG > CAG S1512L ND *based on screening of 25 normal control individuals, ND: not determined. Login to comment 62 ABCC1 p.Ser1512Leu
X
ABCC1 p.Ser1512Leu 11139250:62:146
status: NEW
view ABCC1 p.Ser1512Leu details
 Another C to T transition was detected at position 4535 in the cDNA sequence, changing the codon (TCG) for serine to the codon (TTG) for leucine (S1512L). Login to comment