Different regional distribution of SLC25A13 mutations in Chinese patients with neonatal intrahepatic cholestasis

Table 1 Regional distribution of mutant SLC25A13 alleles and frequencies in China n (%)

Mutation	South	Border	North	Nucleotide change	Protein change	Ref.
Common	56 (93)	34 (79)1	2 (50)2
851del4	41 (68)	22 (51)	2 (50)	c.851_854del	p.M285fsX286	Kobayashi et al[1]
1638ins23	9 (15)	4 (9)		c.1638_1660dup23	p.A554fsX570	Kobayashi et al[1]
IVS6+5G>A	2 (3)	4 (9)		c.615 + 5G>A	-	Saheki et al[23]
IVS16ins3kb	4 (7)	4 (9)		c. 1750+72_1751-4dup17ins	p.A584fsX585	Tabata et al[20]
				NM_138459.3:2667
Other	4 (7)	9 (21)	2 (50)
IVS11+1G>A			1 (25)	c.1019_1177del	-	Kobayashi et al[1]
E601K	1 (2)	1 (2)		c.1801G>A	p.E601K	Yamaguchi et al[17]
R184X		1 (2)		c.550C>T	p.R184X	Lu et al[19]
R360X			1 (25)	c.1078C>T	p.R360X	Tabata et al[20]
R319X		1 (2)		c.955C>T	p.R319X	Song et al[29]
IVS6+1G>A		2 (5)		c.615+1G>A	-	Fu et al[24]
L85P		1 (2)		c.254T>C	p.L85P	Fu et al[24]
R585H		1 (2)		c.1754G>A	p.R585H	Song et al[28]
1092_5delT	1 (2)			c.1092_5delT	p.R319X	Fu et al[24]
Q259X		1 (2)		c.775C>T	p.Q259X	Wen et al[30]
985insT	1 (2)			c.985_986insT	p.A329fsX372	Present study
F96S		1 (2)		c.287T>C	p.F96S	Present study
E450G	1 (2)			c.1349A>G	p.E450G	Present study

Allele counts for the mutations are given together with their relative frequencies expressed as percentage value (in brackets). Novel mutations found in this study are indicated by bold letters. Variation in allele proportion (counts) between the three regions:

¹χ² = 4.621, P = 0.032, common mutation in south vs in border;

²χ² = 8.288, P = 0.041, common mutation in south vs in north. GenBank reference sequences were NT_079595 and NM_014251.2.

Table 2 Conservation analysis of SLC25A13 gene mutations F96S and E450G among different species

F96S

Human

L

C

A

P

D

A

L

F

M

V

A

F

Q

L

F

D

K

A

G

K

G

E

V

Canis

L

C

A

P

D

A

L

F

M

V

A

F

Q

L

F

D

K

A

G

K

G

E

V

Bos

L

C

A

P

D

A

L

F

M

V

A

F

Q

L

F

D

K

A

G

K

G

E

V

Equus

L

C

A

P

D

A

L

F

M

V

A

F

Q

L

F

D

K

A

G

K

G

E

V

Pan

L

C

A

P

D

A

L

F

M

V

A

F

Q

L

F

D

K

A

G

K

G

E

V

Mus

L

C

A

P

D

A

L

F

M

V

A

F

Q

L

F

D

K

A

G

K

G

E

V

Gallus

L

C

A

P

D

A

L

F

M

V

A

F

Q

L

F

D

K

A

G

K

G

E

V

Xenopus

L

C

A

P

D

A

L

F

M

V

A

F

Q

L

F

D

K

A

G

K

G

E

V

E450G

Human

G

G

S

Q

V

I

F

T

N

P

L

E

I

V

K

I

R

L

Q

V

A

G

E

Canis

G

G

S

Q

V

I

F

T

N

P

L

E

I

V

K

I

R

L

Q

V

A

G

E

Bos

G

G

S

Q

V

I

F

T

N

P

L

E

I

V

K

I

R

L

Q

V

A

G

E

Equus

G

G

S

Q

V

I

F

T

N

P

L

E

I

V

K

I

R

L

Q

V

A

G

E

Pan

G

G

S

Q

V

I

F

T

N

P

L

E

I

V

K

I

R

L

Q

V

A

G

E

Mus

G

G

S

Q

V

I

F

T

N

P

L

E

I

V

K

I

R

L

Q

V

A

G

E

Gallus

G

M

C

Q

V

V

F

T

N

P

L

E

I

V

K

I

R

L

Q

T

A

G

E