Table 1 Summary of candidate mutations in SSPO identified by whole-exome sequencing

From: Whole-exome sequencing analysis of supernumerary teeth occurrence in Japanese individuals

 

Chr

Position

Ref

Obs

Function

Gene

Exonic function

AAChange

  

HGVD

1,000 g

dbSNP135

Family A

7

149493577

A

T

Exonic

SSPO

Nonsynonymous SNV

NM_198455

c.A6653T

p.Q2218L

0.02193

0.04

rs73727613

Family C

7

149484985

C

A

Exonic

SSPO

Stopgain SNV

NM_198455

c.C3740A

p.S1247X

0.022665

0.0041

rs146309075

Family C

7

149504070

G

A

Exonic

SSPO

Nonsynonymous SNV

NM_198455

c.G8894A

p.C2965Y

0.021668

0.01

rs140118386

Family D

7

149500107

G

A

Exonic

SSPO

Nonsynonymous SNV

NM_198455

c.G7733A

p.R2578H

0.004177

0

 
  1. Abbreviations: AAChange, amino acid change; dbSNP135, database single-nucleotide polymorphisms 135; HGVD, Human Genetic Variation Database; Obs, observed base; Ref, reference base; SNV, single-nucleotide variant; SSPO, SCO-spondin; 1000 g, 1000 Genomes Project database.
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