ABCMdb

ABCB3 p.Leu3Val

None has been submitted yet.

Publications

PMID: 12826376 [PubMed] Lajoie J et al: "New transporter associated with antigen processing (TAP-2) polymorphisms in the Shona people of Zimbabwe."

No. Sentence Comment

4 Six new polymorphic sites were identified in exon 1 (codons 15 Val3Ala, 53 Leu3Val), exon 3 (codon 220 Arg3Arg), exon 4 (codons 257 Thr3Ile, 313 Arg3His), and exon10 (codon 609 Ala3Val). Login to comment
75 TABLE 3 TAP2 nucleotide sequence variations observed in Zimbabweans Location Nucleotide substitution Genomic position Amino acid change Reference Codon 15 GTG-GCG 40 471 Val 3 Ala New Codon 53 CTA-GTA 40 584 Leu 3 Val New Codon 220 CGA-AGA 42 947 None (Arg) New Codon 257 ACC-ATC 43 332 Thr 3 Ile New Codon 313 CGC-CAC 43 500 Arg 3 His New Codon 374 GCC-ACC 46 011 Ala 3 Thr [14] Codon 379 GTA-ATA 46 026 Val 3 Ile [5] Intron 5 TCTT (deletion) 46 184 [14] Intron 5 T-A 46 194 [14] Intron 5 T-C 46 195 [14] Codon 386 GGG-GGT 46 214 None (Gly) [13] Codon 458 ACG-ACA 47 956 None (Thr) [14] Codon 466 GGG-GGA 47 980 None (Gly) [14] Codon 467 GTT-ATT 47 981 Val 3 Ile [14] Codon 565 GCT-ACT 48 629 Ala 3 Thr [18] Codon 604 GGA-GGG 49 141 None (Gly) [16] Codon 609 GCG-GTG 49 155 Ala 3 Val New Intron 10 C-T 49 270 [24] Codon 665 ACA-GCA 49 687 Thr 3 Ala [9, 10] Codon 687 TAG-CAG 49 753 Stop 3 Gln [9, 10] Codon 697 GTG-GTT 49 785 None (Val) [9, 10] Variant nucleotides are in bold. Login to comment