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
  • protein features (might be) affected
  • 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 ENST00000541158
Genbank transcript ID NM_000369
UniProt peptide P16473
alteration type single base exchange
alteration region intron
DNA changes 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
effectgDNA positionscorewt detection 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 209
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
21413TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
227248REPEATLRR 6.might get lost (downstream of altered splice site)
229232STRANDmight get lost (downstream of altered splice site)
250253STRANDmight get lost (downstream of altered splice site)
250271REPEATLRR 7.might get lost (downstream of altered splice site)
257257CONFLICTT -> S (in Ref. 4; AAA70232).might get lost (downstream of altered splice site)
264264CONFLICTP -> A (in Ref. 4; AAA70232).might get lost (downstream of altered splice site)
302302CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
306308CONFLICTMQS -> IET (in Ref. 4; AAA70232).might get lost (downstream of altered splice site)
414441TRANSMEMHelical; Name=1; (Potential).might get lost (downstream of altered splice site)
442450TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
451473TRANSMEMHelical; Name=2; (Potential).might get lost (downstream of altered splice site)
474494TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
494494DISULFIDBy similarity.might get lost (downstream of altered splice site)
495517TRANSMEMHelical; Name=3; (Potential).might get lost (downstream of altered splice site)
518537TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
528528CONFLICTR -> A (in Ref. 4; AAA70232).might get lost (downstream of altered splice site)
538560TRANSMEMHelical; Name=4; (Potential).might get lost (downstream of altered splice site)
561580TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
569569DISULFIDBy similarity.might get lost (downstream of altered splice site)
581602TRANSMEMHelical; Name=5; (Potential).might get lost (downstream of altered splice site)
601601CONFLICTY -> H (in Ref. 1; AAA36783).might get lost (downstream of altered splice site)
603625TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
626649TRANSMEMHelical; Name=6; (Potential).might get lost (downstream of altered splice site)
635635CONFLICTI -> T (in Ref. 4; AAA70232).might get lost (downstream of altered splice site)
645645CONFLICTL -> V (in Ref. 4; AAA70232).might get lost (downstream of altered splice site)
650660TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
661682TRANSMEMHelical; Name=7; (Potential).might get lost (downstream of altered splice site)
669669CONFLICTL -> I (in Ref. 4; AAA70232).might get lost (downstream of altered splice site)
683764TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
744744CONFLICTN -> K (in Ref. 3; AAA61236).might get lost (downstream of altered splice site)
762764MOTIFPDZ-binding.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 323 / 323
chromosome 14
strand 1
last intron/exon boundary 1204
theoretical NMD boundary in CDS 831
length of CDS 2295
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)		 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 N/A
altered cDNA sequence snippet N/A
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 LDVSQTSVTA
LPSKGLEHLK ELIARNTWTL KKLPLSLSFL HLTRADLSYP SHCCAFKNQK KIRGILESLM
CNESSMQSLR QRKSVNALNS PLHQEYEENL GDSIVGYKEK SKFQDTHNNA HYYVFFEEQE
DEIIGFGQEL KNPQEETLQA FDSHYDYTIC GDSEDMVCTP KSDEFNPCED IMGYKFLRIV
VWFVSLLALL GNVFVLLILL TSHYKLNVPR FLMCNLAFAD FCMGMYLLLI ASVDLYTHSE
YYNHAIDWQT GPGCNTAGFF TVFASELSVY TLTVITLERW YAITFAMRLD RKIRLRHACA
IMVGGWVCCF LLALLPLVGI SSYAKVSICL PMDTETPLAL AYIVFVLTLN IVAFVIVCCC
YVKIYITVRN PQYNPGDKDT KIAKRMAVLI FTDFICMAPI SFYALSAILN KPLITVSNSK
ILLVLFYPLN SCANPFLYAI FTKAFQRDVF ILLSKFGICK RQAQAYRGQR VPPKNSTDIQ
VQKVTHEMRQ GLHNMEDVYE LIENSHLTPK KQGQISEEYM QTVL*
mutated AA sequence N/A
speed 1.15 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