Table 1.
Mutations of the HJV gene linked to JH.
| Residue mutation | Exon | Type of mutation | Nucleotide change | Family origin | References |
|---|---|---|---|---|---|
| Q6H | 2 | Missense | 18G > C | Asian | Huang et al., 2004 |
| L27fsX51 | 2 | Frame shift | 81delG | English/Irish | Wallace et al., 2007 |
| R54X | 3 | Nonsense | 160A > T | African American | Murugan et al., 2008 |
| G66X | 3 | Nonsense | 196G > T | Romanian | Jánosi et al., 2005 |
| V74fsX113 | 3 | Frame shift | 220delG | English | Lanzara et al., 2004 |
| C80R | 3 | Missense | 238T > C | Caucasian | Lee et al., 2004 |
| S85P | 3 | Missense | 253T > C | Italian | Lanzara et al., 2004 |
| G99R | 3 | Missense | 295G > A | Albanian | Lanzara et al., 2004 |
| G99V | 3 | Missense | 296G > T | Multiple | Papanikolaou et al., 2004; Silvestri et al., 2007 |
| L101P | 3 | Missense | 302T > C | Albanian | Lanzara et al., 2004; Lee et al., 2004 |
| G116X | 3 | Nonsense | Santos et al., 2012 | ||
| C119F | 3 | Missense | G356 > T | German | Gehrke et al., 2005; Silvestri et al., 2007 |
| R131fsX245 | 3 | Frame shift | 391-403del | Italian | Lanzara et al., 2004 |
| D149fsX245 | 3 | Frame shift | 445delG | Italian | Lanzara et al., 2004 |
| L165X | 3 | Nonsense | 494T > A | van Dijk et al., 2007 | |
| A168D | 3 | Missense | 503C > A | Australian /English | Lanzara et al., 2004 |
| F170S | 3 | Missense | 509T > C | Italian | De Gobbi et al., 2002; Lanzara et al., 2004; Silvestri et al., 2007 |
| D172E | 3 | Missense | 516C > G | Italian | Lanzara et al., 2004 |
| R176C | 3 | Missense | 526C > T | European | Aguilar-Martinez et al., 2007; Ka et al., 2007 |
| W191C | 3 | Missense | 573G > T | Italian | De Gobbi et al., 2002; Lanzara et al., 2004; Silvestri et al., 2007 |
| N196K | 3 | Missense | 588T > G | Santos et al., 2012 | |
| S205R | 3 | Missense | 615C > G | Italian | Lanzara et al., 2004 |
| I222N | 4 | Missense | 665T > A | Canadian | Papanikolaou et al., 2004 |
| K234X | 4 | Nonsense | 700-703AAG del | European | Santos et al., 2012 |
| D249H | 4 | Missense | 745G > C | Asian | Santos et al., 2012 |
| G250V | 4 | Missense | 749G > T | Italian | Lanzara et al., 2004 |
| N269fsX311 | 4 | Frame shift | 806 > 807insA | English | Lanzara et al., 2004 |
| I281T | 4 | Missense | 842T > C | Multiple | Huang et al., 2004; Papanikolaou et al., 2004 |
| C282Y | 4 | Missense | Caucasian | Le Gac et al., 2004 | |
| R288W | 4 | Missense | 863C > T | French | Lanzara et al., 2004 |
| R288Y | 4 | Missense | 862C > T | Wallace et al., 2007 | |
| E302K | 4 | Missense | 904G > A | Brazilian | Santos et al., 2011 |
| A310G | 4 | Missense | 929C > G | Brazilian | de Lima Santos et al., 2010; Santos et al., 2011 |
| Q312X | 4 | Nonsense | 934C > T | Asian | Nagayoshi et al., 2008 |
| G319fsX341 | 4 | Frame shift | 954-955insG | Italian | Lanzara et al., 2004 |
| G320V | 4 | Missense | 959G > T | Multiple | Lanzara et al., 2004; Papanikolaou et al., 2004; Gehrke et al., 2005; Silvestri et al., 2007; Santos et al., 2011 |
| C321W | 4 | Missense | 963C > G | European | Wallace et al., 2007 |
| C321X | 4 | Nonsense | 962G > A, 963C > A | Asian | Huang et al., 2004; Santos et al., 2012 |
| R326X | 4 | Nonsense | 976C > T | Asian | Huang et al., 2004; Papanikolaou et al., 2004 |
| S328fsX337 | 4 | Frame shift | 980-983 delTCTC | Slovakian | Gehrke et al., 2005 |
| R335Q | 4 | Missense | 1004G > A | Wallace et al., 2007 | |
| C361fsX366 | 4 | Frame shift | 1080delC | European | Papanikolaou et al., 2004 |
| N372D | 4 | Missense | 1114A > G | Wallace et al., 2007 | |
| R385X | 4 | Nonsense | 1153C > T | Italian | Lanzara et al., 2004; Santos et al., 2012 |