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Table 1 CECR1 mutations so far detected

From: Monogenic polyarteritis: the lesson of ADA2 deficiency

Mutation

Exon

HGVS sequence name

Aminoacid substitution

N° of patients

Enzymatic domain

M1T

2

c.2 T > C

Met1Thr

1 in compound heterozygosis

Signal peptide

K13del

2

c.37_39del

37_39del

2 in compound heterozygosis

Signal peptide (?)

28-kb-deletion

2

deletion

deletion

1 in compound heterozygosis

5′UTR (5′untranslated region)

G47R

2

c.139G > A

Gly47Arg

27 in homozygosis

Dimerization

1 in compound heterozygosis

G47A

2

c.140G > C

Gly47Ala

2 in compound heterozygosis

Dimerization

G47V

2

c.140G > T

Gly47Val

1 in compound heterozygosis

Dimerization

I93T

2

c.278 T > C

Ile93Thr

1 in compound heterozygosis

Dimerization

A109D

3

c.326C > A

Ala109Asp

1 in compound heterozygosis

Catalytic

H112Q

3

c.336C > G

His112Gln

1 in compound heterozygosis

Catalytic

T119A

3

c.355A > G

Thr119Ala

4 in compound heterozygosis

Catalytic

G142S

3

c.424G > A

Gly142Ser

4 in compound heterozygosis

Catalytic

R169Q

3

c.506G > A

Arg169Gln

15 in homozygosis

PBR (putative receptor-binding)

9 in compound heterozygosis

P193L

4

c.578C > T

Pro193Leu

1 in compound heterozygosis

Catalytic (?)

M243R

4

NA

Met243Arg

2 in compound heterozygosis

Catalytic

P251L

4

c.752C > T

Pro251Leu

4 in compound heterozygosis

Catalytic

W264S

5

c.791G > C

Trp264Ser

1 in compound heterozygosis

Catalytic

R306*

6

c.916C > T

p.Arg306*

1 in compound heterozygosis

Catalytic (?)

N328K

7

c.1159C > A

Cys1159Arg

2 in compound heterozygosis

Catalytic

Y453C

9

c.1358A > G

Tyr453Cys

3 in compound heterozygosis

Catalytic

  1. Legend: HGVS: Human Genome Variation Society
  2. NA not available