Nucleotide change | Codon | Protein change | Mutation name | Mutation type | No of patients | Asymptomatic |
---|---|---|---|---|---|---|
Exon 1: | ||||||
nt 407 C/T | 65 | Ser→Leu | S65L | Missense | 1 | |
nt 407 C/G | 65 | Ser→Trp | S65W | Missense | 2 | |
nt 407 C/A | 65 | Ser→stop | S65stop | Nonsense | 1 | |
nt 434 T/G | 74 | Val→Gly | V74G | Missense | 3 | (1) |
nt 437 Ins. A | 76 | FS | 437insA | Frameshift | 2 | |
nt 437 Del.TCT1-150 | 76 | Del.Phe | 437del3 | In-frame del | 2 | |
nt 443 Ins.TCT | 77 | Ins. Leu | 443ins3 | In-frame ins | 1 | |
nt 446 A/G | 78 | Asn→Ser | N78S | Missense | 1 | |
nt 452 G/A | 80 | Ser→Asn | S80N | Missense | 1 | |
nt 454 C/T | 81 | Pro→Ser | P81S | Missense | 1 | |
nt 475 T/A | 88 | Trp→Arg | W88R | Missense | 1 | (1) |
nt 477 G/C | 88 | Trp→Cys | W88C | Missense | 1 | |
nt 479 T/C | 89 | Leu→Pro | L89P | Missense | 6 | (2) |
nt 493 G/T | 94 | Glu→stop | E94stop | Nonsense | 1 | |
nt 505 T/C | 98 | Tyr→His | Y98H | Missense | 21 | (13) |
nt 529 Ins.GCC1-150 | 106 | Ins. Arg | 529ins3 | In-frame ins | 1 | |
nt 544 A/C1-150 | 111 | Ser→Arg | S111R | Missense | 1 | |
nt 553+1 G/A1-150 | splice defect | 553+1 G/A | Splice defect | 1 | ||
Exon 2: | ||||||
nt 557 A/G | 115 | His→Arg | H115R | Missense | 2 | (1) |
nt 559 Ins. T1-150 | 116 | FS | 559insT | Frameshift | 1 | |
nt 597 Del. T | 128 | FS | 597delT | Frameshift | 1 | |
nt 607 C/T | 132 | Gln→stop | Q132stop | Nonsense | 1 | |
nt 608 A/C | 132 | Gln→Pro | Q132P | Missense | 2 | (1) |
nt 620 T/C | 136 | Phe→Ser | F136S | Missense | 1 | |
nt 620 T/G | 136 | Phe→Cys | F136C | Missense | 1 | |
nt 646 C/T1-150 | 145 | Glu→stop | E145stop | Nonsense | 3 | |
nt 665 T/C1-150 | 151 | Ile→Thr | I151T | Missense | 2 | |
nt 676 +1 G/C | Splice defect | 676 +1 G/C | Splice defect | 2 | ||
nt 676 +2 C/T | Splice defect | 676 +2 C/T | Splice defect | 1 | ||
Exon 3: | ||||||
nt 677 -2 A/G | Splice defect | 677 -2 A/G | Splice defect | 1 | ||
nt 694 C/G | 161 | Arg→Gly | R161G | Missense | 1 | |
nt 694 C/T | 161 | Arg→stop | R161stop | Nonsense | 4 | |
nt 695 G/C | 161 | Arg→Pro | R161P | Missense | 1 | |
nt 695 G/A | 161 | Arg→Gln | R161Q | Missense | 1 | |
nt 699 C/G | 162 | Cys→Trp | C162W | Missense | 1 | |
nt 703 C/T | 164 | Gln→stop | Q164stop | Nonsense | 1 | |
nt 712 C/T | 167 | Arg→Trp | R167W | Missense | 5 | (1) |
nt 713 G/A | 167 | Arg→Gln | R167Q | Missense | 1 | |
nt 746 T/A | 178 | Leu→Gln | L178Q | Missense | 2 | (1) |
nt 746 T/C | 178 | Leu→Pro | L178P | Missense | 1 | |
nt 761 C/A | 183 | Ser→stop | S183stop | Nonsense | 4 | |
nt 794 Del.GT1-150 | 194 | FS | 794del2 | Frameshift | 1 | |
Large deletions: | ||||||
2 kb Deletion | Deletion | 5 | ||||
3 kb Deletion | Deletion | 1 | ||||
10 kb Deletion | Deletion | 5 | ||||
11 kb Deletion | Deletion | 2 |
A germline mutation of the VHL gene was found in 81 of the 141 patients with primary symptomatic haemangioblastoma. Additionally we could find mutations in 21 patients with primary asymptomatic tumours. Forty two different mutations were found.
nt=nucleotide; ins=insertion; del=deletion; FS=frameshift;
↵1-150 novel mutations.