ABCMdb

PMID: 12826376

Lajoie J, Zijenah LS, Faucher MC, Ward BJ, Roger M
New transporter associated with antigen processing (TAP-2) polymorphisms in the Shona people of Zimbabwe.
Hum Immunol. 2003 Jul;64(7):733-40., [PubMed]

Sentences

No. Mutations Sentence Comment

4 ABCB3 p.Leu3Val 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 ABCB3 p.Leu3Val 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 101 ABCB3 p.Arg651Cys ABCB3 p.Val379Ile ABCB3 p.Thr665Ala ABCB3 p.Ala565Thr ABCB3 p.Arg313His ABCB3 p.Ala374Thr ABCB3 p.Ala609Val ABCB3 p.Thr257Ile It is interesting to note that 565Thr and 651Cys variants in Rwandans do not follow TABLE 4 Allelic frequencies of TAP 2 single nucleotide polymorphisms in different populations Population Number of alleles T257I R313H A374T V379I A565T A609V R651C T665A Zimbabwean 384 3.4% 4.7% 9.1% 19.3% 13.5% 3.9% 0% 20.3% Caucasiansa 152 - - 0% 18.4% 0.7% - 5.3% 15.1% Braziliansa 296 - - 2.0% 13.2% 10.1% - 4.0% 32.4% Rwandansa 570 - - 6.7% 11.8% 0% - 10.0% 30.2% Zambiansa 234 - - 6.8% 10.2% 18.3% - 0% 23.5% a From [41]. Login to comment