Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 3.61570111501746e-30 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:150280445C>GN/A show variant in all transcripts   IGV
HGNC symbol SERP1
Ensembl transcript ID ENST00000479209
Genbank transcript ID N/A
UniProt peptide Q9Y6X1
alteration type single base exchange
alteration region intron
DNA changes g.40571G>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs1132979
databasehomozygous (G/G)heterozygousallele carriers
1000G---
ExAC79401688724827
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.5540.899
3.8481
(flanking)1.0441
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -346) |
effectgDNA positionscoredetection sequence  exon-intron border
Donor marginally increased40571wt: 0.7369 / mu: 0.7602 (marginal change - not scored)wt: TACTAGTGTAAGGCT
mu: TACTACTGTAAGGCT		 CTAG|tgta
Donor marginally increased40572wt: 0.7646 / mu: 0.8072 (marginal change - not scored)wt: ACTAGTGTAAGGCTG
mu: ACTACTGTAAGGCTG		 TAGT|gtaa
Acc gained405760.53mu: AGAAAATACTTACTACTGTAAGGCTGCCACGTTGCCAGGAC gtaa|GGCT
distance from splice site 15481
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
138TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
3959TRANSMEMHelical; Anchor for type IV membrane protein; (Potential).might get lost (downstream of altered splice site)
6066TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 1274 / 1274
chromosome 3
strand -1
last intron/exon boundary 1434
theoretical NMD boundary in CDS 110
length of CDS 201
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 40571
chromosomal position
(for ins/del: last normal base / first normal base)		 150280445
original gDNA sequence snippet CACTGAGAAAATACTTACTAGTGTAAGGCTGCCACGTTGCC
altered gDNA sequence snippet CACTGAGAAAATACTTACTACTGTAAGGCTGCCACGTTGCC
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MVAKQRIRMA NEKHSKNITQ RGNVAKTSRN APEEKASVGP WLLALFIFVV CGSAIFQIIQ
SIRMGM*
mutated AA sequence N/A
speed 0.17 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project