Table 4 Structural analysis of four mutant proteins.

From: Clinical diagnosis of genetic disorders at both single-nucleotide and chromosomal levels based on BGISEQ-500 platform

Gene

Transcription

Location

Nucleotide sequence change

Amino acid sequence change

Modeling Fragment

ΔΔG

Functional Domain

ANLN

NM_018685

chr7:36483455

c.3062A>T

p.D1021V

970-1123

−0.138577

Anillin Pleckstrin homology (PH) domain

CNGB1

NM_001297

chr16:57935311

c.2921T>G

p.M974R

502-1095

4.07063

effector domain of the CAP family of transcription factors

UMOD

NM_003361

chr16:20348705

c.1648G>A

p.V550I

1-620

4.01864

Zona pellucida (ZP) domain

DSTYK

NM_015375

chr1:205131207

c.1775G>A

p.R592Q

302-923

0.215561

 

UNC45B

NM_173167

chr17:33507673

c.2357G>A

p.C786Y

123-931

3.16846

 

COL4A3

NM_000091

chr2:228173943

c.4664C>T

p.A1555V

1432-1670

2.46126

 
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