Cat-Map Chromosome 13 shiels.lab 11/6/2011
Cytogenetic Physical Gene Exon/ DNA Change Coding Change Inh* Origin Cataract Phenotype Other Phenotype Reference Mouse Locus/Mutant Mouse Reference Rat Locus/Mutant Rat Reference
Locus Locus Intron
(Mbp)
13q11-q12 20,712,394.. GJA3 Ex2 c.-39C>G Cx China Age-related nuclear Zhou et al. 2011 14 Gja3 15 Gja3
20,735,183
13q11-q12 GJA3 Ex2 c.5G>A p.G2D AD China Nuclear pulverulent, Yao et al. 2011 null Gong, et al. 1999 p.E42K Yoshida et al. 2005
Posterior polar (SHRSPwch1.9cat)
13q11-q12 GJA3 Ex2 c.7G>T p.D3Y AD Honduras Zonular pulverulent Addison, et al. 2006
13q11-q12 GJA3 Ex2 c.32T>C p.L11S AD Denmark "Ant-egg" Hansen, et al. 2006
13q11-q12 GJA3 Ex2 c.56C>T p.T19M AD India Posterior polar Santhiya et al. 2010
13q11-q12 GJA3 Ex2 c.82G>A p.V28M AD India Total, anterior capsular, Devi, et al. 2005
cortical
13q11-q12 GJA3 Ex2 c.96C>A p.F32L AD China Nuclear pulverulent Jiang, et al. 2003
13q11-q12 GJA3 Ex2 c.98G>T p.R33L AD India Granular embryonal Guleria, et al. 2007
13q11-q12 GJA3 Ex2 c.130G>A p.V44M AD China Central nuclear with Zhou et al. 2010
punctate cortical
13q11-q12 GJA3 Ex2 c.130G>A p.V44M AD USA ? Bennett, et al. 2011
13q11-q12 GJA3 Ex2 c.134G>C p.W45S AD China Nuclear Ma, et al. 2005
GJA3 Ex2 c.139G>A p.D47N AD China Nuclear Yang et al. 2011
13q11-q12 GJA3 Ex2 c.176C>T p.P59L AD USA Nuclear punctate Bennett, et al. 2004
13q11-q12 GJA3 Ex2 c.176C>T p.P59L AD Denmark ? Hansen et al. 2009
13q11-q12 GJA3 Ex2 c.176C>T p.P59L AD China ? Sun et al. 2011
13q11-q12 GJA3 Ex2 c.188A>G p.N63S AD UK Variable pulverulent Mackay, et al. 1999
13q11-q12 GJA3 Ex2 c.226C>G p.R76G AD India Total Devi, et al. 2005
13q11-q12 GJA3 Ex2 c.227G>A p.R76H AD Australia Nuclear lamellar Burdon, et al. 2004
pulverulent
13q11-q12 GJA3 Ex2 c.227G>A p.R76H AD Denmark Lamellar, sutural Hansen et al. 2009
13q11-q12 GJA3 Ex2 c.260C>T p.T87M AD India "Pearl-box" Guleria, et al. 2007
13q11-q12 GJA3 Ex2 c.415G>A p.V139M Cx China Age-related cortical Zhou et al. 2011
13q11-q12 GJA3 Ex2 c.560C>T p.P187L AD UK Zonular pulverulent Rees, et al. 2000
13q11-q12 GJA3 Ex2 c.559C>T p.P187S AD China Nuclear pulverulent Ding et al. 2011
13q11-q12 GJA3 Ex2 c.563A>C p.N188T AD China Nuclear pulverulent Li, et al. 2004
13q11-q12 GJA3 Ex2 c.1137insC p.S380QfsX87 AD UK Punctate Mackay, et al. 1999
13q11-q12 GJA3 Ex2 c.1143_1165del23 p.381fs*48 AD China Punctate nuclear Sun et al. 2011
13q12 GJB6 AD Hidrotic ectodermal 14 Gjb6
dysplasia
null Teubner et al. 2003
13q12.3 B3GALTL AR Peters-plus syndrome 5 B3galtl
13q14 SLC25A15 AR Posterior sub-capsular Hyperornithinemia- 8 Slc25a15
Hyperammonemia-
Homocitrullinuria (HHH)
syndrome
13q14.3 ITM2B AD Posterior polar (20-30 Familial British dementia
years of age) (FBD), familial Danish
dementia (FDD)
13q34 COL4A1 Familial porencephaly, 8 Col4a1
Brain small vessel
disease with
hemorrhage/Axenfeld-
Rieger anomalies,
Hereditary angiopathy
with nephropathy,
aneurysms, and muscle
cramps (HANAC)
p.G627W (Bru) Van Agtmael et al. 2005
p.K950E (Raw)
p.G1064D (Svc)