Yum, tasty mutations...

MutationTaster - study a chromosomal position

 MTQE documentation
NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 1 transcript(s)...
Querying Taster for transcript #1: ENST00000408934
MT speed 0 s - this script 2.332621 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
PRR21polymorphism1.52190482438641e-11simple_aaeaffectedS257Psingle base exchangers200649765show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999984781      (explain)
Summary
  • amino acid sequence changed
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:240981631A>GN/A show variant in all transcripts   IGV
HGNC symbol PRR21
Ensembl transcript ID ENST00000408934
Genbank transcript ID NM_001080835
UniProt peptide Q8WXC7
alteration type single base exchange
alteration region CDS
DNA changes c.769T>C
cDNA.769T>C
g.769T>C
AA changes S257P Score: 74 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 257
frameshift no
known variant Reference ID: rs200649765
Allele 'G' was neither found in ExAC nor 1000G.
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.6150.033
0.3070.014
(flanking)-0.9490.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased761wt: 0.67 / mu: 0.80wt: TCCATGCCTCTTCACCCACGGCCCTTCGTCCATGCCTCTTC
mu: TCCATGCCTCTTCACCCACGGCCCTTCGCCCATGCCTCTTC		 acgg|CCCT
Acc increased773wt: 0.43 / mu: 0.59wt: CACCCACGGCCCTTCGTCCATGCCTCTTCACCCACGGCCCT
mu: CACCCACGGCCCTTCGCCCATGCCTCTTCACCCACGGCCCT		 ccat|GCCT
Donor increased768wt: 0.29 / mu: 0.45wt: CCTTCGTCCATGCCT
mu: CCTTCGCCCATGCCT		 TTCG|tcca
distance from splice site 402
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      257LRPCLFTHGPSSMPLHPRPFLHAS
mutated  not conserved    257LRPCLFTHGPSPMPLHPRPFLHA
Ptroglodytes  all identical  ENSPTRG00000040883  116LPPCLFTHGPSSMP
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
38320COMPBIASPro-rich.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1170 / 1170
position (AA) of stopcodon in wt / mu AA sequence 390 / 390
position of stopcodon in wt / mu cDNA 1170 / 1170
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 1 / 1
chromosome 2
strand -1
last intron/exon boundary 1
theoretical NMD boundary in CDS cannot be calculated, too little distance between start ATG and last intron/exon boundary
length of CDS 1170
coding sequence (CDS) position 769
cDNA position
(for ins/del: last normal base / first normal base)		 769
gDNA position
(for ins/del: last normal base / first normal base)		 769
chromosomal position
(for ins/del: last normal base / first normal base)		 240981631
original gDNA sequence snippet TCTTCACCCACGGCCCTTCGTCCATGCCTCTTCACCCACGG
altered gDNA sequence snippet TCTTCACCCACGGCCCTTCGCCCATGCCTCTTCACCCACGG
original cDNA sequence snippet TCTTCACCCACGGCCCTTCGTCCATGCCTCTTCACCCACGG
altered cDNA sequence snippet TCTTCACCCACGGCCCTTCGCCCATGCCTCTTCACCCACGG
wildtype AA sequence MHACSSTALH PRPFIHGFSF TTFLQQLFPH GSSTALHPWP FIHGSSPMAL HPRLFTHGPS
STALHPCPFT HGSSPMSLHP RLFTHSPSSM PLHPRPFVHA SSPTALRPCL FTHGPSSMPL
HPRPFVHASS PTALPPCLFT HGPSSMPLHP RPFLHASSPT ALPPCLFTHG PSSMPLHPRP
FVHASSPTAL RPCLFTHGPS SMPLHPRPFV HASSPTALPP CLFTHGPSSM PLHPRPFVHA
SSPTALRPCL FTHGPSSMPL HPRPFLHASS PTALRPCLFT HGPSSMPLHP RPFVHASSPT
ALRPCLFTHG PSSMPLHPRP FVHASSSTSL HPRPFIHASS SKSLHLRLFS HSSCLVGFSQ
QGNVLLLSAR ATFNTCLLVS NMYFLIISY*
mutated AA sequence MHACSSTALH PRPFIHGFSF TTFLQQLFPH GSSTALHPWP FIHGSSPMAL HPRLFTHGPS
STALHPCPFT HGSSPMSLHP RLFTHSPSSM PLHPRPFVHA SSPTALRPCL FTHGPSSMPL
HPRPFVHASS PTALPPCLFT HGPSSMPLHP RPFLHASSPT ALPPCLFTHG PSSMPLHPRP
FVHASSPTAL RPCLFTHGPS SMPLHPRPFV HASSPTALPP CLFTHGPSSM PLHPRPFVHA
SSPTALRPCL FTHGPSPMPL HPRPFLHASS PTALRPCLFT HGPSSMPLHP RPFVHASSPT
ALRPCLFTHG PSSMPLHPRP FVHASSSTSL HPRPFIHASS SKSLHLRLFS HSSCLVGFSQ
QGNVLLLSAR ATFNTCLLVS NMYFLIISY*
speed 0.32 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
back to results table

Problems