Novel Hypoxanthine Guanine Phosphoribosyltransferase Gene Mutations in Saudi Arabian Hyperuricemia Patients

Table 2

Amino acid location, substitutions, and predictions associated with HPRT gene in Saudi Arabian hyperuricemia patients.

Mutation

Location

Amino acid

Type

cDNA; position

Sift prediction

Polyphen prediction

SNPnexus; (Genetic association database)

Score

Prediction

Confidence

Score

Prediction

Phenotype

Association

GAD Id

Prevalence in patients

384A>T

Exon 3

Lys103Met

Nonsynonymous

475

0

damaging

high

0.997

damaging

Lesch-Nyhan syndrome

Y

126393

1, 2, 5, 7 & 9

614delTCG

Exon 6

ValAla160AlaSer

Peptide shift

646

N

N

N

N

N

Lesch-Nyhan syndrome

Y

126393

1

615C>G

Exon 6

Val160Val

Synonymous

647

N

N

N

N

N

Lesch-Nyhan syndrome

Y

126393

2, 8

616G>A

Exon 6

Ala161Thr

Nonsynonymous

648

0.08

tolerated

high

0.928

damaging

Lesch-Nyhan syndrome

Y

126393

2, 8

362A>T

Exon 3

Thr96Ser

Nonsynonymous

453

0.92

tolerated

high

0

tolerated

Lesch-Nyhan syndrome

Y

126393

4

613delG

Exon 6

Val160Arg

Frameshift: stop-gain

645

N

N

N

N

N

Lesch-Nyhan syndrome

Y

126393

4, 5

327insT

Exon 3

Ala84Val|Asp

Nonsynonymous|frameshift: stop-gain

418

0.34

tolerated

high

0

tolerated

Lesch-Nyhan syndrome

Y

126393

6

340T>A

Exon 3

Asn88Lys

Nonsynonymous

431

0.15

tolerated

high

0.015

tolerated

Lesch-Nyhan syndrome

Y

126393

6

329insG

Exon 3

Leu85Val|∗

Nonsynonymous|frameshift: stop-gain

420

0.01

damaging

high

0.505

damaging

Lesch-Nyhan syndrome

Y

126393

1

614T>G

Exon 6

Val160Gly

Nonsynonymous

638

0

damaging

high

0.994

damaging

Lesch-Nyhan syndrome

Y

126393

7

612G/T

Exon 6

Lys159Asn

Nonsynonymous

644

0.3

tolerated

high

0.184

tolerated

Lesch-Nyhan syndrome

Y

126393

9, 10

613G>A

Exon 6

Val160Ile

Nonsynonymous

645

0.11

tolerated

high

0.107

tolerated

Lesch-Nyhan syndrome

Y

126393

9

20 bp deletion

Exons 5 and 6

—

Deletion

—

—

—

—

—

—

—

—

—

1