Skip to main content

Table 2 Truncating mutations in the C-propeptide region of COL2A1

From: Short stature, platyspondyly, hip dysplasia, and retinal detachment: an atypical type II collagenopathy caused by a novel mutation in the C-propeptide region of COL2A1: a case report

No.

Variant location

Nucleotide change

Predicted protein change

Clinical diagnosis

Reference

1

Exon 52

c.3906del

p.Asn1303Thrfs*9

STL1

Hoornaert et al. [12]

2

Exon 52

c.3891_3898dup

p.Ile1300Thrsfs*15

STL1

Hoornaert et al. [12]

3

Intron 52

c.4074 + 1G > T

p.Trp1348Cysfs*17

STLI

Hoornaert et al. [12]

4

Exon 52

c.3978delC

p.Asn1327Ilefs*49

STLI

Ahmad et al. [13]

5

Exon 52

c.3957del

p.Gly1320Alafs*56

STL1

Annunen et al. [14]

6

Exon 53

c.4088del

p.Asp1363Valfs*13

Early-onset OA

Barat-Houari et al. [15]

7

Exon 53

c.4161_4165del

p.Gln1387Hisfs*30

This report

 

8

Exon 53

c.4300del

p.Leu1434*

SPPD

Barat-Houari et al. [15]

9

Exon 53

c.4287_4291dup

p.Tyr1431Serfs*6

SPPD

Zabel et al. [16]

10

Exon 53

c.4314C > A

p.Cys1438*

SPPD

Zankl et al. [3]

11

Exon 54

c.4335G > A

p.Trp1445*

PLSDT

Zankl et al. [2]

12

Exon 54

c.4339A > T

p.Lys1447*

SPPD

Bedeschi et al. [17]

13

Exon 54

c.4332del

p.Lys1444Asnfs*27

SPPD

Zhang et al. [18]

14

Exon 54

c.4337del

p.Gly1446Alafs*25

SPPD

Zankl et al. [3]

15

Exon 54

c.4357del

p.Arg1453Glyfs*18

SPPD

Meredith et al. [19]

16

Exon 54

c.4423C > T

p.Gln1475*

PLSDT

Zankl et al. [2]

17

Exon 54

c.4413_4416del

p.Gly1472Profs*9

PLSDT

Nishimura et al. [20]