MUTATION ANALYSIS IN THE NF1 GENE 545
TABLE 2. Mutations Detected by Analysis of the Whole Coding Region of the NF1 Gene by PTT and HA
Genomic Effect on Amino acid Exon/ PTT
Patient mutationa cDNA change Intron Type/effect (frag)b CGc S/Fd Previously described
NF-004 247C>T Q83X 3 Nonsense + (F1) No F Osborn and Upadhyaya, 1999
NF-023 278G>A  C93Y 3 Missense - (HA) No F Novel
NF-036 560G>A  C187Y 4b Missense - (HA) No F Novel
NF-056 574C>T R192X 4b Nonsense + (F1) Yes S Fahsold et al., 2000
NF-029 603-604insT Frameshift 4c Frameshift + (F1) NA F Novel
NF-027 910C>T R304X 7 Nonsense:truncation due to + (F1) Yes S Hoffmeyer et al., 1998
888del174 stopcodon; splice: intact
3¢ and 5¢ ss, no cryptic or
novel ss, IF skip E7
NF-064 910C>T R304X 7 Identical as NF-027 + (F1) Yes F Hoffmeyer et al., 1998
888del174
NF-024 987-988insA  Frameshift 7 Frameshift + (F1) NA F Novel
NF-048 1275G>A  W425X 10a Nonsense + (F1) No S Novel
NF-042 1318C>T 
NF-030 1381C>T R461X 10a Nonsense + (F1) Yes S Fahsold et al., 2000
NF-017 1466A>G  Y489C 10b Splice: intact WT 5¢ ss, + (F1) No F Messiaen et al., 1999
creation novel 5¢ ss, skip
last 62 nt E10b forms
immediate stopcodon

NF-016 1465-1466insC  Y489X 10b Nonsense + (F1) NA S Novel
NF-033 1570G>T  E524X 10c Nonsense + (F1) No F Novel
NF-052 1607C>A S536X 10c Nonsense + (F1) No F Novel
NF-045 IVS12a+1G>T  None IVS12a Splice: inactivation 5¢ ss, IF + (F2) No S Abernathy et al., 1997
skip E11+12a
NF-034 2033-2034insC  Frameshift 13 Frameshift + (F2) NA S Heim et al., 1995
NF-035 2033-2034insC  Frameshift 13 Frameshift + (F2) NA S Heim et al., 1995
NF-010 2540T>C  L847P 16 Missense - (HA) No F Messiaen et al., 1998
NF-051 IVS16+3del6  Frameshift IVS16 Splice: inactivation 5¢ ss, + (F2) NA S Novel
activation cryptic 5¢ ss,
skip last 233 nt E16
NF-028 IVS16-6del4 Frameshift IVS16 Splice: inactivation 3¢ ss, + (F2) NA F Novel
OOF skip E17
NF-014 2875C>T  Q959X 17 Nonsense + (F2) No F Novel
NF-011 2887C>T Q963X 17 Nonsense + (F2) No F Novel
NF-001 2970-2972delAAT 991delM 17 Amino acid deletion - (HA) NA F Shen et al., 1993
NF-053 3193delC  Frameshift 19a Frameshift + (F2) NA S Novel
NF-063 3277G>A , V1093M; 19b Splice: intact WT 5¢ ss, + (F2) No F Novel
3274del40 frameshift creation novel 5¢ ss,
skip last 40 nt E19b
NF025 IVS19b-3C>G Frameshift IVS19b Splice: inactivation 3¢ ss, + (F2) No F Novel
OOF skip E20
(continued)
NF-039 3367G>T  E1123X 20 Nonsense + (F2) No S Novel
NF-046 3520C>T Q1174X 21 Nonsense + (F2) No S Novel
NF-059 3826C>T R1276X 22 Nonsense + F(3) Yes S Heim et al., 1995
NF-041 4084C>T  R1362X 23.2 Nonsense + (F3) Yes S Upadhyaya et al., 1997
NF-054 4084C>T  R1362X 23.2 Nonsense + (F3) Yes S Upadhyaya et al., 1997
NF-044 IVS26-2A>T  Frameshift IVS26 Splice: inactivation 3¢ ss, + (F3) No S Novel
4515-17 ins 17 activation 2 cryptic 3¢ ss
sites leading to 2 different
OOF insertions
NF-021 4537C>T  R1513X 27a Nonsense + (F3) Yes S Side et al., 1995
NF-006 4537C>T  R1513X 27a Nonsense + (F3) Yes F Side et al., 1995
NF-058 IVS27b-2A>T 4772 del 433; Frameshift IVS27b Splice: inactivation 3¢ ss, + (F3) No F Novel
4772del293 activation cryptic 3¢ ss,
OOF skip E28; OOF skip
first 293 nt E28
NF-049 5033delG  Frameshift 28 Frameshift + (F3) NA F Novel
NF-009 5264C>G S1755X 29 Nonsense + (F4) No S Novel
NF-050 5294C>A S1765X 29 Splice: intact 3¢ ss, creation + (F4) Yes F Novel
(5294C>A???) novel 3¢ ss, IF skip first
90 nt E29
NF-037 5546G>A 5205 del 3 41; R1849Q 29 Splice: intact 5¢ ss, OOF skip + (F4) Yes F Ars et al., 2000
5205del544 E29 and E29+30
NF-038 5546G>A 5205 del 341; R1849Q 29 Identical as NF-037 + (F4) Yes F Ars et al., 2000
5205del544
NF-047 5567delT  Frameshift 30 Frameshift + (F4) NA S Novel
NF-031 5798delC  Frameshift 31 Frameshift + (F4) NA S Novel
NF-060 5839C>T  R1947X 31 Nonsense + (F4) Yes F Cawthon et al., 1990
NF-043 5896C>T Q1966X 31 Nonsense + (F4) No F Novel
NF-015 6577delGAGgta  Frameshift 34 Splice: inactivation 5¢ ss, + (F4) NA A Novel
OOF skip E34
NF-040 6709C>T  R2237X 36 Nonsense + (F4) Yes S Fahsold et al., 2000
NF-008 6789-6792delTTAC 6789-6792 del TTAC Frameshift 37 Frameshift + (F4) NA S Robinson et al., 1995
NF-019 6792C>A 6756 del 102 Y2264X 37 Splice: intact 3¢ and 5¢ ss, + (F4) No F Messiaen et al., 1997
no cryptic or novel ss, IF
skip E37

NF-032 6858G>C 6756 del 102 K2286N 37 Splice: inactivation 5¢ss, IF + (F4) No F Novel
skip E37
NF-013 7096-7101del6 7 2366delNF 39 Amino acid deletion - (HA) NA F Abernathy et al., 1994
NF-005 IVS39-12T>A  NA IVS39 Splice: inactivation 3¢ ss, IF + (F5) No F Novel
7127-10in s10 skip E40; activation cryptic
3¢ ss, OOF ins last 10
nt IVS39
TABLE 2. (Continued).
Genomic Effect on Amino acid Exon/ PTT
Patient mutationa cDNA change Intron Type/effect (frag)b CGc S/Fd Previously described

NF-002 7201A>T 2401X 40 Nonsense + (F5) No S Novel
NF-055 7285C>T R2429X 41 Nonsense + (F5) Yes S Fahsold et al., 2000
NF-061 7486C>T R2496X 42 Nonsense + (F5) Yes S Purandare et al., 1994
NF-020 7884-7885delGT  Frameshift 45 Frameshift + (F5) NA S Novel
NF-007 8016delA
TABLE 2. (Continued).
Genomic Effect on Amino acid Exon/ PTT
Patient mutationa cDNA change Intron Type/effect (frag)b CGc S/Fd Previously described