Supplementary Table 4.
Reported connexin 50 mutants and associated cataracts
| Mutation | Amino acid change | Location | Cataract types | Inheritary | Family origin | References |
|---|---|---|---|---|---|---|
| 68G>C | R23T | NT* | Progressive dense nuclear | Autosomal dominant | Iranian | Willoughby et al. 2003 |
| 92T>C | I31T | M1† | Nuclear cataract | Autosomal dominant | Chinese | Wang et al. 2009 |
| 116C>G | T39R | M1 | Cataract and microcornea and iris hypoplasia | Autosomal dominant | Chinese | Sun et al. 2011 |
| 131T>A | V44E | M1 | Cataract and microcornea | Autosomal dominant | Indian | Devi and Vijayalakshmi 2006 |
| 131T>C | V44A | M1 | Suture-sparing nuclear cataracts | Autosomal dominant | Chinese | Zhu et al. 2014 |
| 134G>C | W45S | M1 | Jellyfish-like bilateral and microcornea | Autosomal dominant | Indian | Vanita et al. 2008b |
| 136G>A | G46R | M1 | Complete and microcornea | Autosomal dominant | Chinese | Sun et al. 2011 |
| 137 G>T | G46V | M1 | Total cataract | Autosomal dominant | Pakistani | Minogue et al. 2009 |
| 139G>A | D47N | E1‡ | Nuclear pulverulent | Autosomal dominant | British | Arora et al. 2008; Wang et al. 2011 |
| 139G>T | D47Y | E1 | Nuclear cataract | Autosomal dominant | Chinese | Lin et al. 2008 |
| 139G>C | D47H | E1 | Nuclear cataract | Autosomal dominant | Chinese | Li et al. 2013 |
| 142G>A | E48K | E1 | Zonular nuclear pulverulent | Autosomal dominant | Pakistani | Berry et al. 1999 |
| 191T>G | V64G | E1 | Nuclear | Autosomal dominant | Chinese | Ma et al. 2005 |
| 218C>T | S73F | E1 | Dense and “star-shaped,” various locations in the nucleus or the poles | Autosomal dominant | Danish | Hansen et al. 2009 |
| 235G>C | V79L | M2§ | “Full moon” Y-sutural opacity | Autosomal dominant | Indian | Vanita et al. 2006 |
| 262C>T | P88S | M2 | Zonular pulverulent | Autosomal dominant | British | Shiels et al. 1998 |
| 262C>A | P88Q | M2 | Lamellar pulverulent | Autosomal dominant | British | Arora et al. 2006 |
| 262C>A | P88Q | M2 | “Balloon-like” Y-sutural opacities | Autosomal dominant | Indian | Vanita et al. 2008a |
| 264C>T | P88T | M2 | Total cataract | Autosomal dominant | Chinese | Ge et al. 2014 |
| 565C>T | P189L | E2|| | Cataract and microcornea | Autosomal dominant | Danish | Hansen et al. 2007 |
| 593G>A | R198Q | E2 | Cataract and microcornea | Autosomal dominant | Indian | Devi and Vijayalakshmi 2006 |
| 592C>T | R198W | E2 | Cataract and microcornea | Autosomal dominant | Chinese | Hu et al. 2010 |
| 601G>A | E201K | E2 | Perinuclear cataracts | Autosomal dominant | Chinese | Su et al. 2013 |
| 670insA | 203fs | E2 | Cataract | Autosomal recessive | Indian | Ponnam et al. 2007 |
| 773C>T | S258F | CT¶ | Nuclear | Autosomal dominant | Chinese | Gao et al. 2010 |
| 776insG | fs | CT | Triangular | Autosomal recessive | Germany | Schmidt et al. 2008 |
| 836C>A | S259Y | CT | – | Autosomal dominant | Danish | Hansen et al. 2009 |
| 827C>T | S276F | CT | Nuclear pulverulent | Autosomal dominant | Chinese | Yan et al. 2008 |
| 905T>C | L281C | CT | Lamellar/zonular | Autosomal dominant | Indian | Kumar et al. 2011 |
*Cytoplasmic amino-terminal, †First transmembrane domain, ‡Extracellular loop 1, §Second transmembrane domain, ||Extracellular loop 2, ¶Cytoplasmic carboxy-terminal. NT: N-terminal; CT: C-terminal.