SNP (e.g. A/T) DIP (e.g. -/TA)

Validated

Region in Transcript

Promoter 5'UTR CDS 3'UTR Splice site

Type(CDS)

• Nonsynonymous

  • Stop-AA

  • AA-Stop

    • NMD

• Synonymous

  • Synonymous at stop

• Unclassified

Effect on Functional Domain:

We determined nonsynonymous SNPs that alter functional domain sequence or motif using InterPro Scan (HMMPfam) by comparing results between original transcript CDS and mutated CDS. Check "Gain" or "Loss" to get SNPs whose mutated alleles generate a new domain or cause loss of a domain, respectively.

Gain Loss

OMIM Allelic Valiant:

We determined SNPs corresponding to OMIM allelic variants by comparing amino acids and position in transcripts.

OMIM Allelic Valiant

Effect on Protein 3D Structure:

We performed annotation and prediction of structurally-induced harmful effects of nonsynonymous SNPs/DIPs based on position of structural domains from GTOP alignment, location in 3D structure, polymorphism type, and amino acids features. Check the classification according to prediction of effect of polymorphism on forming a normal protein.

Not Harmful Recessively Harmful Unclear