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Table 1 Previously reported hereditary spherocytosis cases with SPTB mutations

From: Identification of a novel heterozygous SPTB mutation by whole genome sequencing in a Chinese patient with hereditary spherocytosis and atrial septal defect: a case report

Author & year

Number of Patients

Exon

Nucleotide

Amino acid

Type

Mutation type

Park 2016 [6]

1

5

c.624_640delinsACCTCC

p.Phe208Leufs*12

Heterogeneous

Frameshift

2

11

c.1493_1502delGCAT

CACGGC

p.Arg498Profs*72

Heterogeneous

Frameshift

1

12

c.1795 + 2_1795 + 3delTG

 

Heterogeneous

Splicing error

1

13

c.2572_2573delGA

p.Asp858Argfs*3

Heterogeneous

Frameshift

1

14

c.2686G > T

p.Glu896*

Heterogeneous

Nonsense

1

15

c.3058C > A

p.Gln1020Lys

Heterogeneous

Missense

1

15

c.3205delG

p.Asp1069Ilefs*59

Heterogeneous

Frameshift

1

15

c.3440delA

p.Asp1147Valfs*79

Heterogeneous

Frameshift

1

18

c.3976G > T

p.Glu1326*

Heterogeneous

Nonsense

1

20

c.4291C > T

p.Arg1431*

Heterogeneous

Nonsense

1

25

c.5266C > T

p.Arg1756*

Heterogeneous

Nonsense

Xue 2020 [7]

1

19

c.4181G > A

p.W1394X

Heterogeneous

Nonsense mutation

1

2

c.211G > A

p.V71M

Heterogeneous

Missense mutation

2

23

c.4973 + 5G > A

Splicing

Heterogeneous

Splice mutation

Meglic 2020 [8]

7

Unspecified

c.4796G > A

p.Trp1599Ter

Heterogeneous

Nonsense mutation

Xue 2019 [9]

2

23

c.4973 + 5G > A

splicing

Heterogeneous

Splice mutation

1

19

c.4181G > A

p.W1394X

Heterogeneous

Nonsense mutation

1

2

c.211G > A

p.V71M

Heterogeneous

Missense mutation

van Vuren 2019 [10]

17

Unspecified

Unspecified

Unspecified

Unspecified

Unspecified

Li 2019 [11]

1

Unspecified

c.2413 C > T

p.Gln805*

Heterogeneous

Nonsense mutation

Shen 2019 [12]

1

23

c.4873 C > T

p.R1625X

Heterogeneous

Nonsense mutation

Choi 2019 [13]

28

Unspecified

Unspecified

Unspecified

Unspecified

Unspecified

Shin 2018 [14]

1

13

c.1956G > A

p.Trp652*

Heterogeneous

Nonsense mutation