Table 1

From: Erratum: Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia

Patient

Familial/sporadic

Nucleotide change

Exon

Amino-acid substitution

Domain

Phenotype

1

S

835 A>T

7

S279C

Ig IIIa

ACH

2

S

833 A>G

7

Y278C

Ig IIIa

HCH/ACH

3

S

802 G>T

7

G268C

Ig II–IgIII linker

HCH

4

S

598 C>T

5

R200C

Ig II

HCH

5

S

784 A>C

7

N262H

Ig II–IgIII linker

HCH

6

F

251 C>T

3

S84L

Ig I

HCH

7

S

1142 T>A

10

V381E

TM

HCH

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