ABCMdb

PMID: 25062064

Hosen MJ, Zubaer A, Thapa S, Khadka B, De Paepe A, Vanakker OM
Molecular docking simulations provide insights in the substrate binding sites and possible substrates of the ABCC6 transporter.
PLoS One. 2014 Jul 25;9(7):e102779. doi: 10.1371/journal.pone.0102779. eCollection 2014., [PubMed]

Sentences

No. Mutations Sentence Comment

222 ABCC6 p.Leu463His Substrate Binding Site-1 AA involved Variant Protein Variant type Exon Protein change Chain A L463 1388T.A L463H Missense 11 p. Login to comment 223 ABCC6 p.Leu463His ABCC6 p.Asn466Tyr (Leu463His) N466 1396A.T N466Y Missense 11 p. Login to comment 224 ABCC6 p.Phe568Ser ABCC6 p.Asn466Tyr (Asn466Tyr) F568 1703C.T F568S Missense 13 p. Login to comment 225 ABCC6 p.Phe568Ser ABCC6 p.Phe568Ser (Phe568Ser) F568 1703T.C F568S Missense 13 p. Login to comment 226 ABCC6 p.Phe568Ser ABCC6 p.Leu946Ile (Phe568Ser) L946 2836C.A L946I Missense 22 p. Login to comment 227 ABCC6 p.Leu953His ABCC6 p.Leu946Ile (Leu946Ile) L953 2868T.A L953H Missense 22 p. Login to comment 228 ABCC6 p.Leu953His ABCC6 p.Arg964Pro (Leu953His) R964 2891G.C R964P Missense 22 p. Login to comment 229 ABCC6 p.Arg964Pro ABCC6 p.Asp1056Glu (Arg964Pro) 998 998+2delT Splice 8i 998 998+2_998+3delTG Splice 8i Chain B D1006 3307-1006_3882+1582del Del 23i_25i D1056 3168C.A D1056E Missense 23 p. Login to comment 230 ABCC6 p.Arg1064Trp ABCC6 p.Asp1056Glu (Asp1056Glu) R1064 3190C.T R1064W Missense 23 p. Login to comment 231 ABCC6 p.Gly1203Asp ABCC6 p.Arg1064Trp (Arg1064Trp) G1203 3608G.A G1203D Missense 25 p. Login to comment 232 ABCC6 p.Gly1203Asp ABCC6 p.Arg1221Cys (Gly1203Asp) R1221 3661C.T R1221C Missense 26 p. Login to comment 233 ABCC6 p.Arg1221Cys ABCC6 p.Arg1221His (Arg1221Cys) R1221 3662G.A R1221H Missense 26 p. Login to comment 234 ABCC6 p.Trp1223* ABCC6 p.Arg1221His (Arg1221His) W1223 3668G.A W1223X Nonsense 26 p. Login to comment 235 ABCC6 p.Gln363* (Trp1223*) Substrate Binding Site-2 Chain A Q363 1087C.T Q363X Nonsense 9 p. Login to comment 237 ABCC6 p.Gln363* (Gln363_Arg374) Q363 1087C.T Q363X Nonsense 9 p. Login to comment