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Table 1 Nucleotide alterations in the exon regions of PMS2 gene in the DNA mismatch repair system in granulosa cell tumor

From: PMS2 gene mutation results in DNA mismatch repair system failure in a case of adult granulosa cell tumor

Nucleotide

Alteration

Exon

Codon

Amino Acid

Zygote

10352

C > T

4

96

Ala

Heterozygote

16758

C > G

7

280

Ser

Homozygote

26796

C > A

11

485

Thr > Lys

Heterozygote

36398

A > G

14

775

Asn > Leu

Heterozygote

40585

T > G

15

822

Leu

Heterozygote

  1. GenBank accession number NG_008466.1 for nucleotide and NP_000526 for amino acid