Last updated on June 03, 2013

 RSS 2.0

 E-alerts
Home
Query
Browse
DNA Sequencing
Browse
PID Expert
statistics
PhenomeR
SciNetS
 
 SAMHD1
View ALL
15 unique mutation(s) annotated from 1 PubMed(s)
Sl.No Mutation type Genomic level change CDS level change RNA level change Protein level change Mutation effects Expt. name PubMed Mutation viewer
1  Deletion    g.16665_16676del    c.359_370del    r.359_370del   p.Asp120_His123del   Amino acid deletion   Direct sequencing, PCR based assay   Rice GI et al., 2009 
  Click here 
2  Substitution    g.16674A>C    c.368A>C    r.368a>c   p.His123Pro   Missense defects   Direct sequencing, PCR based assay   Rice GI et al., 2009 
  Click here 
3  Substitution    g.16733C>T    c.427C>T    r.427c>u   p.Arg143Cys   Missense defects   Direct sequencing, PCR based assay   Rice GI et al., 2009 
  Click here 
4  Substitution    g.16734G>A    c.428G>A    r.428g>a   p.Arg143His   Missense defects   Direct sequencing, PCR based assay   Rice GI et al., 2009 
  Click here 
5  Substitution    g.16739C>T    c.433C>T    r.433c>u   p.Arg145X   Nonsense defects   Direct sequencing, PCR based assay   Rice GI et al., 2009 
  Click here 
6  Substitution    g.16740G>A    c.434G>A    r.434g>a   p.Arg145Gln   Missense defects   Direct sequencing, PCR based assay   Rice GI et al., 2009 
  Click here 
7  Substitution    g.16751C>T    c.445C>T    r.445c>u   p.Gln149X   Nonsense defects   Direct sequencing, PCR based assay   Rice GI et al., 2009 
  Click here 
8  Substitution    g.21061T>A    c.602T>A    r.602u>a   p.Ile201Asn   Missense defects   Direct sequencing, PCR based assay   Rice GI et al., 2009 
  Click here 
9  Substitution    g.21084G>A    c.625G>A    r.625g>a   p.Gly209Ser   Missense defects   Direct sequencing, PCR based assay   Rice GI et al., 2009 
  Click here 
10  Substitution    g.32388A>G    c.760A>G    r.760a>g   p.Met254Val   Missense defects   Direct sequencing, PCR based assay   Rice GI et al., 2009 
  Click here 
11  Substitution    g.39335T>C    c.1106T>C    r.1106u>c   p.Leu369Ser   Missense defects   Direct sequencing, PCR based assay   Rice GI et al., 2009 
  Click here 
12  Substitution    g.39382A>G    c.1153A>G    r.1153a>g   p.Met385Val   Missense defects   Direct sequencing, PCR based assay   Rice GI et al., 2009 
  Click here 
13  Substitution    g.46394C>T    c.1324C>T    r.1324c>u   p.Arg442X   Nonsense defects   Direct sequencing, PCR based assay   Rice GI et al., 2009 
  Click here 
14  Substitution    g.53884G>C    c.1609-1G>C    r.[=,1609_1746del, 1504_1746del]   -   Splice acceptor defects, Exon skipping   Direct sequencing, PCR based assay   Rice GI et al., 2009 
  Click here 
15  Substitution    g.53918C>T    c.1642C>T    r.1642c>u   p.Gln548X   Nonsense defects   Direct sequencing, PCR based assay   Rice GI et al., 2009 
  Click here 
   

  Unique visitors: 21527
  (since May 2009)
  Users online:  1

This is a joint Project between RIKEN, Japan and Institute of Bioinformatics, India.

Comments/Help  Disclaimer