Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999999978703468 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:81575005C>AN/A show variant in all transcripts   IGV
HGNC symbol TSHR
Ensembl transcript ID ENST00000554263
Genbank transcript ID N/A
UniProt peptide N/A
alteration type single base exchange
alteration region 3'UTR
DNA changes cDNA.927C>A
g.153673C>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs3783941
databasehomozygous (A/A)heterozygousallele carriers
1000G96611242090
ExAC25847-189276920
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.3680
-2.3250
(flanking)-0.260
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change occurs after stopcodon (at aa 298) splice site change occurs after stopcodon (at aa 300)
effectgDNA positionscoredetection sequence  exon-intron border
Donor increased153674wt: 0.52 / mu: 0.62wt: CCCACGCTCCAGTAT
mu: CCCAAGCTCCAGTAT		 CACG|ctcc
Donor increased153668wt: 0.27 / mu: 0.93wt: GAAGGCCCCACGCTC
mu: GAAGGCCCCAAGCTC		 AGGC|ccca
distance from splice site 258
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features N/A
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 signal is predicted to be ok
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 27 / 27
chromosome 14
strand 1
last intron/exon boundary 641
theoretical NMD boundary in CDS 564
length of CDS 696
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 927
gDNA position
(for ins/del: last normal base / first normal base)		 153673
chromosomal position
(for ins/del: last normal base / first normal base)		 81575005
original gDNA sequence snippet TTGAGACTCAGAAGGCCCCACGCTCCAGTATGCCATCATGA
altered gDNA sequence snippet TTGAGACTCAGAAGGCCCCAAGCTCCAGTATGCCATCATGA
original cDNA sequence snippet TTGAGACTCAGAAGGCCCCACGCTCCAGTATGCCATCATGA
altered cDNA sequence snippet TTGAGACTCAGAAGGCCCCAAGCTCCAGTATGCCATCATGA
wildtype AA sequence MRPADLLQLV LLLDLPRDLG GMGCSSPPCE CHQEEDFRVT CKDIQRIPSL PPSTQTLKLI
ETHLRTIPSH AFSNLPNISR IYVSIDVTLQ QLESHSFYNL SKVTHIEIRN TRNLTYIDPD
ALKELPLLKF LGIFNTGLKM FPDLTKVYST DIFFILEITD NPYMTSIPVN AFQGLCNETL
TLKLYNNGFT SVQGYAFNGT KLDAVYLNKN KYLTVIDKDA FGGVYSGPSL L*
mutated AA sequence N/A
speed 1.09 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