Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:2.3.1.108 (TAT)
 2,389 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report herein the identification of a new HLA-C allele using sequence-based typing (SBT). This novel allele, HLA-Cw*08012, was found in an Aboriginal individual from the Puyuma tribe in the southern part of Taiwan. This individual was typed by the SBT method as having an HLA genotype of HLA-A*2402/2402, HLA-B*1502/4801, HLA-Cw*08011/08012, HLA-DRB1*15011/08032, HLA-DRB5*01011, and DPB1*0501/1401. This new allele differs from HLA-Cw*08011 in one of the nucleotides of the polymorphic exon 3 at codon 99 [TAT-->TAC; both code for tyrosine]. This residue is located in the beta sheet of the HLA-C alpha2 domain. This new allele was detected in a few individuals of the Puyuma tribe in Taiwan, but has not yet been observed in other populations in Taiwan.
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PMID:Point mutation in the beta sheet of the HLA-C alpha2 domain generates a novel HLA-C allele, HLA-Cw*08012, in a Puyuma Aboriginal individual in Taiwan. 1247 64

HLA-Cw*16 is a relatively common HLA-C specificity among Caucasoids, with Cw*1601 being the most frequent allele. We report herein the identification by sequence-based typing of a new HLA-Cw*16 allele in a Spanish Caucasoid blood donor. The novel allele, designated Cw*1606, differs from Cw*1601 by two nucleotide changes at positions 361 (T to A) and 368 (A to C) in exon 3, which leads to two amino acid changes from Trp (TGG) to Arg (AGG) and from Tyr (TAT) to Ser (TCT) at codons 97 and 99 in the alpha2 domain, respectively. Sequence comparisons suggest that the new HLA-Cw*1606 variant could have arisen from an intralocus gene conversion event.
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PMID:Characterization of a new HLA-C allele: Cw*1606. 1297