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Table 5 Mutation frequency and pathogenicity prediction for all SLC22A12 mutations

From: Renal hypouricemia caused by novel compound heterozygous mutations in the SLC22A12 gene: a case report with literature review

Nucleotide changea

Amino acid changeb

Start position (GRCh37.p13 Primary Assembly)

Mutation frequency

Bioinformatics analysis results

1000g2015aug_all

ExAC

esp6500siv2_all

SIFT

Polyphen-2

LRT

MutationTaster

151delG

A51fsX64:

Chr11; 64,359,179

.

.

.

.

.

.

.

G193 T

G65 W

Chr11; 64,359,221

.

.

.

D

D

N

N

T224C

I75T

Chr11; 64,359,252

0.0002

0.0002

0.0005

D

D

N

N

C233T

P78L

Chr11; 64,359,261

.

2.51*10−5

.

D

D

D

D

G269A

R90H

Chr11; 64,359,297

.

0.0002

7.70*10−5

T

D

D

A

G371 T

R124L

Chr11; 64,359,399

.

.

.

T

P

N

N

G412A

V138 M

Chr11; 64,360,260

.

6.59*10−5

.

D

D

D

D

G490A

G164S

Chr11; 64,360,338

.

0.0001

.

D

D

N

N

IVS2 + 1 G > A

Frameshift

Chr11; 64,360,355

0.0002

2.48*10−5

.

.

.

.

D

C650T

T217 M

Chr11; 64,361,020

.

3.31*10−5

.

D

D

N

A

G774A

W258X

Chr11; 64,361,219

0.000998

0.0003

.

.

.

D

A

C889T

Q297X

Chr11; 64,366,046

.

.

.

.

.

N

A

G894 T

E298D

Chr11; 64,366,051

.

.

.

T

D

D

A

937_999del (63 bp)

D313_P333del

Chr11; 64,366,094

.

.

.

.

.

.

.

C1039A

R347S

Chr11; 64,366,364

0.0002

.

.

T

D

D

D

G1082 T

G361 V

Chr11; 64,367,159

.

.

.

T

D

D

A

G1096C

G366R

Chr11; 64,367,173

.

.

.

D

D

D

D

A1145T

Q382L

Chr11; 64,367,222

.

6.72*10−5

.

D

D

D

D

G1162A

V388 M

Chr11; 64,367,239

.

0.0002

7.70*10−5

T

D

N

N

C1216T

R406C

Chr11; 64,367,293

.

4.23*10−5

.

D

D

D

D

1245_1253del

L415_G417del

Chr11; 64,367,322

.

.

.

.

.

.

.

T1253G

L418R

Chr11; 64,367,330

.

1.73*10−5

.

D

D

N

A

T1289C

M430 T

Chr11; 64,367,842

.

.

.

T

P

N

D

1289_1290insGG

M430fsX466

Chr11; 64,367,842

.

.

.

.

.

.

.

C1300T

R434C

Chr11; 64,367,853

.

0.0002

7.70*10−5

T

P

N

D

G1301A

R434H

Chr11; 64,367,854

0.004593

0.0025

0.0049

D

D

D

D

G1330A

G444R

Chr11; 64,367,883

.

6.07*10−5

.

T

D

N

N

C1400T

T467 M

Chr11; 64,368,212

0.001797

0.0014

7.70*10−5

T

D

N

N

C1429A

R477S

Chr11; 64,368,241

.

.

.

D

D

D

D

G1430A

R477H

Chr11; 64,368,242

.

9.22*10−5

.

D

D

D

D

C1546A

P516T

Chr11; 64,368,358

.

.

.

D

D

D

D

1639_1643del

Frameshift

Chr11; 64,369,000

.

.

.

.

.

.

.

  1. SIFT: D means deleterious, T means tolerated; Polyphen-2: D means probably damaging, P means possibly damaging; LRT: D means deleterious, N means neutral, U means unknown; MutationTaster: A means disease_causing_automatic, D means disease_causing, N means polymorphism. Dot means not found or unknown
  2. aaccording to coding sequence
  3. baccording to amino acid
  4. * means multiplication sign