MUTATION ANALYSIS IN THE
 

NF-1 GENE 545 TABLE 2. Mutations Detected by Analysis of the Whole Coding Region of the
 

NF-1 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 247C>TQ83X 3 Nonsense + (F1) No F Osborn and Upadhyaya, 1999
 

NF-023 278G>A 278G>AC93Y 3 Missense - (HA) No F Novel
 

NF-036 560G>A 560G>AC187Y 4b Missense - (HA) No F Novel
 

NF-056 574C>T 574C>TR192X 4b Nonsense + (F1) Yes S Fahsold et al., 2000
 

NF-029 603-604insT 603-604insTFrameshift 4c Frameshift + (F1) NA F Novel
 

NF-064 910C>T 910C>T; R304X 7 Identical as
 

NF-027 + (F1) Yes F Hoffmeyer et al., 1998 888
 

NF-024 987-988insA  987-988insAFrameshift 7 Frameshift + (F1) NA F Novel
 

NF-048 1275G>A 1275G>AW425X 10a Nonsense + (F1) No S Novel
 

NF-026 1381C>T 1381C>TR461X 10a Nonsense + (F1) Yes S Fahsold et al., 2000
 

NF-017 1466A>GY489C 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-017 + (F1) No S Messiaen et al., 1999
 

NF-016 1465-1466insC1466insC Y489X 10b Nonsense + (F1) NA S Novel
 

NF-033 1570G>T    1570G>TE524X 10c Nonsense + (F1) No F Novel
 

NF-052 1607C>A     1607C>AS536X 10c Nonsense + (F1) No F Novel
 

NF-045 IVS12a+1G>T 1641el204 None IVS12a Splice: inactivation 5¢ ss, IF + (F2) No S Abernathy et al., 1997 skip E11+12a
 

NF-034 2033insCFrameshift 13 Frameshift + (F2) NA S Heim et al., 1995
 

NF-010 2540T>C    2540T>CL847P 16 Missense - (HA) No F Messiaen et al., 1998
 

NF-051 IVS16+3del6Frameshift IVS16 Splice: inactivation 5¢ ss, + (F2) NA S Novel activation cryptic 5¢ ss, skip last 233 nt E16
 

NF-028 IVS16-6del4Frameshift IVS16 Splice: inactivation 3¢ ss, + (F2) NA F Novel OOF skip E17
 

NF-014 2875C>T    2875C>TQ959X 17 Nonsense + (F2) No F Novel
 

NF-011 2887C>T    2887C>TQ963X 17 Nonsense + (F2) No F Novel
 

NF-001 2970-2972delAAT    2970-2972delAAT Amino acid deletion - (HA) NA F Shen et al., 1993
 

NF-053 3193delC    3193delCFrameshift 19a Frameshift + (F2) NA S Novel
 

NF-063 3277G>A3277G>A, V1093M; 19b Splice: intact WT 5¢ ss, + (F2) No F Novel frameshift creation novel 5¢ ss, skip last 40 nt E19b
 

NF-025 IVS19b-3CG 3314dl182 Frameshift IVS19b Splice: inactivation 3¢ ss, + (F2) No F Novel OOF skip E20 (continued)
 
 
 
 
 

NF-039 3367G>T    3367G>TE1123X 20 Nonsense + (F2) No S Novel
 

NF-046 3520C>T    3520C>TQ1174X 21 Nonsense + (F2) No S Novel
 

NF-059 3826C>T    3826C>TR1276X 22 Nonsense + F(3) Yes S Heim et al., 1995
 

NF-041 4084C>T    4084C>TR1362X 23.2 Nonsense + (F3) Yes S Upadhyaya et al., 1997
 

NF-044 IVS26-2A>T4515-14 ins14; Frameshift IVS26 Splice: inactivation 3¢ ss, + (F3) No S Novel 4515-17ins17 activation 2 cryptic 3¢ ss sites leading to 2 different OOF insertions
 

NF-021 4537C>T    4537C>TR1513X 27a Nonsense + (F3) Yes S Side et al., 1995
 

NF-058 IVS27b-2A>T4772el433; Frameshift IVS27b Splice: inactivation 3¢ ss, + (F3) No F Novel 4772el293 activation cryptic 3¢ ss, OOF skip E28; OOF skip first 293 nt E28
 

NF-049 5033delG    5033delGFrameshift 28 Frameshift + (F3) NA F Novel
 

NF-009 5264C>G    5264C>GS1755X 29 Nonsense + (F4) No S Novel
 

NF-037 5546G>A5205el341; R1849Q 29 Splice: intact 5¢ ss, OOF skip + (F4) Yes F Ars et al., 2000 520544 E29 and E29+30
 

NF-037 + (F4) Yes F Ars et al., 2000 5205el544
 

NF-047 5567delT    5567delTFrameshift 30 Frameshift + (F4) NA S Novel
 

NF-031 5798delC    5798delCFrameshift 31 Frameshift + (F4) NA S Novel
 

NF-060 5839C>T    5839C>TR1947X 31 Nonsense + (F4) Yes F Cawthon et al., 1990
 

NF-043 5896C>T    5896C>TQ1966X 31 Nonsense + (F4) No F Novel
 

NF-015 6577delGAGgtaFrameshift 34 Splice: inactivation 5¢ ss, + (F4) NA A Novel OOF skip E34
 

NF-040 6709C>T    6709C>TR2237X 36 Nonsense + (F4) Yes S Fahsold et al., 2000
 

NF-008 6789-6792delTTAC    Frameshift 37 Frameshift + (F4) NA S Robinson et al., 1995
 

NF-019 6792C>A Y2264X 37 Splice: intact 3¢ and 5¢ ss, + (F4) No F Messiaen et al., 1997 no cryptic or novel ss, IF skip E37
 

NF-019 + (F4) No F Messiaen et al., 1997
 

NF-032 6858G>C6756102 K2286N 37 Splice: inactivation 5¢ss, IF + (F4) No F Novel skip E37
 

NF-013 7096-7101del6    7096-7101del62366l
 

NF- 39 Amino acid deletion - (HA) NA S Abernathy et al., 1994
 

NF- 39 Amino acid deletion - (HA) NA F Abernathy et al., 1994
 

NF-005 IVS39-12T>ANA IVS39 Splice: inactivation 3¢ ss, IF + (F5) No F Novel 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    7201A>TK2401X 40 Nonsense + (F5) No S Novel
 

NF-055 7285C>T    7285C>TR2429X 41 Nonsense + (F5) Yes S Fahsold et al., 2000
 

NF-061 7486C>T    7486C>TR2496X 42 Nonsense + (F5) Yes S Purandare et al., 1994
 

NF-020 7884-7885delGT    7884-7885delGTFrameshift 45 Frameshift + (F5) NA S Novel
 

NF-007 8016delA    8016delAFrameshift 46 Frameshift + (F5) NA S Novel TABLE 2. (Continued). Genomic Effect on Amino acid Exon/ PTT Patient mutationa cDNA change Intron Type/effect (frag)b CGc S/Fd Previously described
 
 

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