Skip to main content

Table 1 Known mutations in the human MIP gene compared to the novel mutation in the panda MIP gene

From: A novel missense mutation in the gene encoding major intrinsic protein (MIP) in a Giant panda with unilateral cataract formation

Exon/intron

DNA Change

Coding Change

Inheritance

Origin

Phenotype

Species

Reference

Exon 1 (p1–120)

c.2T > C

p.M1T

AD

China

Initiation codon mutation

Human

Xiao et al., 2011 [35]

c.97C > T

p.R33C

AD

China

Missense

Human

Gu et al., 2007 [30]

c.319G > A

p.V107I

AD

China

Missense

Human

Wang et al., 2010 [33]

c.337C > T

p.R113*

AD

China

Nonsense mutation

Human

Yu et al., 2014 [40]

Exon 2 (p121–175)

c.401C > G

p.E134G

AD

UK

Missense

Human

Berry et al., 2000 [28]

c. 413C > G

p.T138R

AD

UK

Missense mutation

Human

Berry et al., 2000 [28]

c.448G > C

p.D150H

AD

China

Missense

Human

Shentu et al., 2015 [41]

c.494G > A

p.G165D

AD

South Indian

Missense mutation

Human

Senthilet al., 2013

c.508dupC

p.L170fs

AD

China

Missense

Human

Qin et al., 2016 [43]

Exon 3

(p176–202)

c.530A > G

P.Y177C

AD

China

Missense

Human

Yang et al., 2011 [36]

c.559C > T

p.R187C

AD

China

Missense

Human

Wang et al., 2011 [34]

Intron3

IVS3 − 1G > A

 

AD

China

Splice-acceptor mutation

Human

Jiang et al., 2009 [32]

(c.606 + 1G > A)

 

AD

China

Splice-donor mutation

Human

Zeng et al., 2013 [38]

Exon 4

(p230–263)

c.634G > C

p.G212R

AD

China

Missense

Human

Jiang et al., 2017 [44]

c.638delG

p.G213fs

AD

US

Frame shift mutation

Human

Geyer et al., 2006 [29]

c.644G > A

p.G215D

AD

China

Missense

Human

Ding et al., 2014 [39]

c.657C > G

p.Y219*

AD

China

Nonsense mutation

Human

Song et al., 2015 [42]

c.682_683delAA

p.K228fs

AD

China

Frame shift mutation

Human

Long et al., 2018 [45]

c.702G > A

p.R233K

AD

China

Missense mutation

Human

Lin et al., 2007 [31]

Exon 4

G > A

p.S229N

 

China

Missense

Panda

This study