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Table 1 Classification of the identified coding SNPs based on their location in exonic regions and their effects on protein sequences

From: Sequence and analysis of a whole genome from Kuwaiti population subgroup of Persian ancestry

Classification $

Known SNPs

Novel SNPs

Known indels

Novel indels

Init Codon

16

0

3

1

Non SNV

9197

193

  

Splicing

68

2

44

 

Stopgain

63

4

2

1

Stoploss

10

0

  

Synonymous

10405

108

  

Unknown

440

1

70

1

Del

-

-

84

3

FrameShift Del

-

-

42

8

FrameShift Ins

-

-

32

2

Ins

-

-

70

5

  1. $Legends to the class types.
  2. Splicing, Variant affects a nucleotide that is in a splicing region of a coding transcript.
  3. Init Codon, Variant changes the start codon.
  4. Frameshift Ins, An insertion that causes a shift in the codon reading frame.
  5. Frameshift Del, A deletion that causes a shift in the codon reading frame.
  6. Frameshift Sub, A substitution that causes a shift in the codon reading frame.
  7. Stopgain, Variant causes a stop codon to be created at the variant site.
  8. Stoploss, Variant changes a stop codon to something else.
  9. Ins, An insertion that does not cause a frameshift.
  10. Del, A deletion that does not cause a frameshift.
  11. Sub, A substitution that does not cause a frameshift.
  12. Nonsyn SNV, A single nucleotide variant that changes the amino acid produced by a codon.
  13. Synonymous, A variant affecting 1 or more nucleotides that does not change the amino acid sequence.
  14. Unknown, A problem was found with the protein coding sequence, See Invalid Transcripts.
  15. SNP & Variation Suite v8.1 (SVS) [Bozeman, MT: Golden Helix, Inc] was used for classifications.