Table 3 List of variants in SLC7A9.

From: Genetic and clinical characteristics of Japanese cystinuria with exon and exon–intron boundary variants

SLC7A9

Variant type

Variants

Protein sequence

Homo/Hetero

Number

Exon

Location

1

Initial codon variant

c.2T > C*

p.(Met1Thr)

Hetero

1

2

Cytoplasmic

2

Nonesense

c.206G > A

p.(Trp69X)

Hetero

2

3

TM2

3

Missense

c.209C > T

p.(Ala70Val)

Hetero

1

3

TM2

4

Missense

c.217G > A

p.(Gly73Arg)

Hetero

1

3

TM2

5

Missense

c.308C > T*

p.(Ala103Val)

Hetero

1

4

TM3

6

Missense

c.511C > T

p.(Arg171Trp)

Hetero

1

5

Cytoplasmic Loop2

7

Missense

c.583G > A

p.(Gly195Arg)

Hetero

2

5

TM5

8

Missense

c.650C > G*

p.(Ser217Cys)

Hetero

1

6

TM6

9

Missense

c.671C > T

p.(Ala224Val)

Hetero

1

6

TM6

10

Missense

c.679A > G

p.(Asn227Asp)

Hetero

4

6

TM6

11

Missense

c.698A > G*

p.(Asp233Gly)

Homo/Hetero

1/1

6

Cytoplasmic Loop3

12

Missense

c.829G > A

p.(Val277Met)

Hetero

1

7

Extra Loop4

13

Missense

c.886C > G*

p.(Arg296Gly)

Hetero

1

9

Extra Loop4

14

Missense

c.968C > T*

p.(Thr323Ile)

Hetero

1

9

Cytoplasmic Loop4

15

Missense

c.974G > T*

p.(Gly325Val)

Hetero

1

9

Cytoplasmic Loop4

16

Missense

c.992C > T

p.(Ala331Val)

Homo

1

10

Cytoplasmic Loop4

17

Missense

c.998G > A

p.(Arg333Gln)

Hetero

2

10

Cytoplasmic Loop4

18

Missense

c.1060G > A

p.(Ala354Thr)

Hetero

4

10

TM9

19

Missense

c.1061C > A

p.(Ala354Asp)

Hetero

1

10

TM9

20

Missense

c.1124T > C*

p.(Val375Ala)

Homo

1

11

TM10

21

Missense

c.1166C > T

p.(Thr389Met)

Hetero

1

11

TM10

22

Missense

c.1336A > C*

p.(Ser446Arg)

Hetero

1

12

TM12

23

Missense

c.1445C > T

p.(Pro482Leu)

Homo/Hetero

43/30

13

Cytoplasmic

24

Frameshift

c.611_612delCA

p.(Thr204fs)

Hetero

1

6

Extra Loop3

25

Frameshift

c.1017delA

p.(Val340fs)

Homo/Hetero

1

10

Cytoplasmic Loop4

26

Splice site

c.873 + 2dupT*

 

Hetero

1

Intron(Exon 8 + 2)

Extra Loop4

27

Splice site

c.1074 + 1G > A*

 

Hetero

1

Intron(Exon 10 + 1)

Extra Loop5

28

Splice site

c.1224 + 3A > C*

 

Homo

1

Intron(Exon 11 + 3)

Cytoplasmic Loop5

29

Splice site

c.1399 + 4_1399 + 7delAGTA

 

Hetero

1

Intron(Exon 12 + 4–7)

TM12

  1. Missense: missense variant, Frameshift: frame shift variant, Nonsense: nonsense variant, Splice site: splice site variant (exon–intron boundary variant), TM: transmembrane domain, *: novel variant not reported previously. These gene variants are described with reference to the sequence of NM_001126335.1.
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