Table 2 Genotypes of patients with infantile nephropathic cystinosis

From: Mutation analysis of the CTNS gene in Iranian patients with infantile nephropathic cystinosis: identification of two novel mutations

Patient ID

Mutant alleles NM_001031681.2(CTNS)

Location

Amino acid change

Protein effect

Reference

P1

c.517T>C/c.517T>C

Exon 8

Y173H

aaa change at TM2

This study

P2

c.613G>A/c.613G>A

Exon 9

D205N

aa change at 1st inter-TM loop

(Shotelersuk et al.32)

P3

c.433C>T/c.433C>T

Exon 7

Q145X

Truncated protein at AA145

(Kartamysheva et al.34)

P4

c.681G>A/c.681G>A

Exon 9

E227E

Alternative splicing

(Aldahmesh et al.26)

P5

c.681G>A/c.681G>A

Exon 9

E227E

Alternative splicing

(Aldahmesh et al.26)

P6

c.681G>A/c.681G>A

Exon 9

E227E

Alternative splicing

(Aldahmesh et al.26)

P7

c.681G>A/c.681G>A

Exon 9

E227E

Alternative splicing

(Aldahmesh et al.26)

P8

c.1015G>A/c.1015G>A

Exon 12

G339R

aa change at TM7

(Shotelersuk et al.32)

P9

c.681G>A/c.681G>A

Exon 9

E227E

Alternative splicing

(Aldahmesh et al.26)

P10

c.681G>A/c.681G>A

Exon 9

E227E

Alternative splicing

(Aldahmesh et al.26)

P11

c.681G>A/IVS11-12G>A

Exon 9/Intron 11

E227E/Frameshift

Alternative splicing/Truncated protein

(Aldahmesh et al.26)/(Attard 1999)

P12

c.681G>A/c.681G>A

Exon 9

E227E

Alternative splicing

(Aldahmesh et al.26)

P13

c.1015G>A/c.1015G>A

Exon 12

G339R

aa change at TM7

(Shotelersuk et al.32)

P14

c.681G>A/c.681G>A

Exon 9

E227E

Alternative splicing

(Aldahmesh et al.26)

P15

c.681G>A/c.681G>A

Exon 9

E227E

Alternative splicing

(Aldahmesh et al.26)

P16

c.492_515del/c.492_515del

Exon 8

aa 165-172del

Disruption of PQ loop 1 in TM2

This study

P17

c.613G>A/c.681G>A

Exon 9/Exon 9

D205N/E227E

aa change at 1st inter-TM loop /Alternative splicing

(Shotelersuk et al.32)/(Aldahmesh et al.26)

P18

c.681G>A/c.681G>A

Exon 9

E227E

Alternative splicing

(Aldahmesh et al.26)

P19

c.492_515del/c.492_515del

Exon 8

aa 165-172del

Disruption of PQ loop 1 in TM2

This study

P20

c.681G>A/c.681G>A

Exon 9

E227E

Alternative splicing

(Aldahmesh et al.26)

  1. a Amino acid.
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