Table 2.

Mutational analysis of IGHV, c-MYC, RhoH/TTF, PAX5, and PIM1 in NLPHL



IGH gene analysis

Mutation position
Patient
IGHV
IGHD
IGHJ
Mutation, %
Functional status
c-MYC exon 1
c-MYC exon 2
RhoH/TTF
PIM1
PAX5
NLPHL 1   3-30   6-06   5b   25.2   +   -   -   -   -   -  
NLPHL 2   3-33   5-24 + 5-18   6b   7.14   +   -   -   G261A; G395A   G1323A   G729A; C1026G; G1425C; C1436G  
NLPHL 3   4-34   2-15   4b   4.54   Crippled   -   G4580T   -   -   C674T; C848T; del18bp (1317-1334); C1357G  
NLPHL 4   4-34   3-03   6b   12.3   +   -   T4312A   -   -   NA  
NLPHL 5   3-07   4-17 + 3-03 + 7-27   6b   6.73   +   -   NA   -   NA   G910A; C953T; C962T; G1070C; G1342A  
NLPHL 6   4-59   4-17   4b   9.18   +   -   -   -   -   C731T; T805G  
NLPHL 7   NA   ND   ND   ND   ND   G3019A; G3056A   -   -   NA   A762G  
NLPHL 8   3-33   D5   6c   5.36   +   delG3028   -   NA   T1365C, C1682T   G847A, C958T  
NLPHL 9   4-39   D4   4b   5.94   +   -   G4650A   -   del1137-1140   C674G, T771G, C853G, A1033G  
NLPHL 10
 
3-74
 
2-02
 
4b
 
9.33
 
+
 
-
 
-
 
-
 
-
 
-
 


IGH gene analysis

Mutation position
Patient
IGHV
IGHD
IGHJ
Mutation, %
Functional status
c-MYC exon 1
c-MYC exon 2
RhoH/TTF
PIM1
PAX5
NLPHL 1   3-30   6-06   5b   25.2   +   -   -   -   -   -  
NLPHL 2   3-33   5-24 + 5-18   6b   7.14   +   -   -   G261A; G395A   G1323A   G729A; C1026G; G1425C; C1436G  
NLPHL 3   4-34   2-15   4b   4.54   Crippled   -   G4580T   -   -   C674T; C848T; del18bp (1317-1334); C1357G  
NLPHL 4   4-34   3-03   6b   12.3   +   -   T4312A   -   -   NA  
NLPHL 5   3-07   4-17 + 3-03 + 7-27   6b   6.73   +   -   NA   -   NA   G910A; C953T; C962T; G1070C; G1342A  
NLPHL 6   4-59   4-17   4b   9.18   +   -   -   -   -   C731T; T805G  
NLPHL 7   NA   ND   ND   ND   ND   G3019A; G3056A   -   -   NA   A762G  
NLPHL 8   3-33   D5   6c   5.36   +   delG3028   -   NA   T1365C, C1682T   G847A, C958T  
NLPHL 9   4-39   D4   4b   5.94   +   -   G4650A   -   del1137-1140   C674G, T771G, C853G, A1033G  
NLPHL 10
 
3-74
 
2-02
 
4b
 
9.33
 
+
 
-
 
-
 
-
 
-
 
-
 

Numbering according to GenBank accession numbers X00364 (c-MYC), AF386789 (RhoH/TTF), AF386792 (PIM1), and AF386791 (PAX5).

NA indicates not available; ND, not determined; -, germline; +, productive rearrangement; and del, deletion.

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