Table 2. The variant in TEX38 whose... | American Society of Hematology

Table 2.

The variant in TEX38 whose allele mismatches contribute to TRM in recipients

Variant	Chromosome	Position	Alleles (ref/alt)	rsID	AA change*	Impact†	Minor allele	MAF‡	Allele mismatch frequency§	Population MAF‖
exm56988	1	47139039	C/T	rs200092801	P178S	Tolerated	T	3.05E−03	5.17E−03	1.60E−03

Variant	Chromosome	Position	Alleles (ref/alt)	rsID	AA change*	Impact†	Minor allele	MAF‡	Allele mismatch frequency§	Population MAF‖
exm56988	1	47139039	C/T	rs200092801	P178S	Tolerated	T	3.05E−03	5.17E−03	1.60E−03

MAF, minor allele frequency.

The amino acid changes are based on transcript NM_001145474.

†

Prediction of functional impact of the AA change by SIFT⁵⁶ or PolyPhen2.⁵⁷

‡

The MAF in recipients of cohort 1. The minor allele was not observed in recipients or donors of cohort 2.

The frequency of allele mismatch in recipient-donor pairs in cohort 1. This was calculated as the sum of absolute difference in allele dosage between all recipient-donor pairs divided by 2 times the number of recipient-donor pairs.

‖

The MAF in the Exome Aggregation Consortium⁵⁸ non-Finnish European population.

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