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. 2009 Feb 28;24(1):77–83. doi: 10.3346/jkms.2009.24.1.77

Table 2.

Germline VHL mutations in Korean VHL patients

graphic file with name jkms-24-77-i002.jpg

Previously reported, HGMD (Human Gene Mutation Database: http://uwcmml1s.uwcm.ac.uk/uwcm/mg/search/120488,html).

*, Novel mutations.

Mutations are described using 'p.' when referring to the VHL protein sequence, and 'c.' for the VHL cDNA sequence. Amino acids are in single-letter notation. Mutations are reported in accordance with the nomenclature for the description of sequence variations as proposed by the Human Genome Variation Society (www.hgvs.org/mutnomen/). The A of the ATG of the initiator Methionine codon (nt. 213 in VHL coding DNA reference sequence NM000551.2) was denoted as nt. +1.