Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.574746341892413 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • 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) chr1:92327045G>AN/A show variant in all transcripts   IGV
HGNC symbol TGFBR3
Ensembl transcript ID ENST00000370399
Genbank transcript ID N/A
UniProt peptide Q03167
alteration type single base exchange
alteration region CDS
DNA changes c.44C>T
cDNA.728C>T
g.44848C>T
AA changes S15F Score: 155 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 15
frameshift no
known variant Reference ID: rs1805110
databasehomozygous (A/A)heterozygousallele carriers
1000G120691811
ExAC14591295414413
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.9710.89
0.9550.888
(flanking)0.5670.869
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased44838wt: 0.7219 / mu: 0.7912 (marginal change - not scored)wt: ATGTGATTGCCATCTTTGCCCTGATGAGCTCCTGTTTAGCC
mu: ATGTGATTGCCATCTTTGCCCTGATGAGCTTCTGTTTAGCC		 gccc|TGAT
Acc increased44854wt: 0.23 / mu: 0.37wt: TGCCCTGATGAGCTCCTGTTTAGCCACTGCAGGTAAGTTGC
mu: TGCCCTGATGAGCTTCTGTTTAGCCACTGCAGGTAAGTTGC		 gttt|AGCC
distance from splice site 18
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      15HYVIAIFALMSSCLATAGPEPGAL
mutated  not conserved    15HYVIAIFALMSFCLATAGPEPGA
Ptroglodytes  all identical  ENSPTRG00000000952  15HYVIAIFALMSSCLATAGPEPGA
Mmulatta  all identical  ENSMMUG00000001742  24HYVIAIFALMSSCLATAGPEPGA
Fcatus  all identical  ENSFCAG00000012148  15YCVIAVFALLSSCVATADPEPGT
Mmusculus  all conserved  ENSMUSG00000029287  17HHMVPVFVLMSACLATAGPEPST
Ggallus  not conserved  ENSGALG00000006038  15SCVTPVFALMILCFADAGPVPRS
Trubripes  all identical  ENSTRUG00000012898  13FVFCISCFVFTAEPLFRS
Drerio  all identical  ENSDARG00000078670  17HIHPSAILLLTLSSLASAGPLSRS
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000023030  n/a
protein features
start (aa)end (aa)featuredetails 
120SIGNALPotential.lost
21787TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
8989CONFLICTP -> S (in Ref. 4; BAF84034).might get lost (downstream of altered splice site)
141141CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
238238CONFLICTI -> V (in Ref. 4; BAF84034).might get lost (downstream of altered splice site)
455730DOMAINZP.might get lost (downstream of altered splice site)
492492CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
534534CARBOHYDO-linked (Xyl...) (glycosaminoglycan) (By similarity).might get lost (downstream of altered splice site)
545545CARBOHYDO-linked (Xyl...) (glycosaminoglycan) (By similarity).might get lost (downstream of altered splice site)
571571CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
590590CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
639639DISULFIDBy similarity.might get lost (downstream of altered splice site)
660660DISULFIDBy similarity.might get lost (downstream of altered splice site)
697697CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
705705DISULFIDBy similarity.might get lost (downstream of altered splice site)
730730DISULFIDBy similarity.might get lost (downstream of altered splice site)
788809TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
810851TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2553 / 2553
position (AA) of stopcodon in wt / mu AA sequence 851 / 851
position of stopcodon in wt / mu cDNA 3237 / 3237
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 685 / 685
chromosome 1
strand -1
last intron/exon boundary 3119
theoretical NMD boundary in CDS 2384
length of CDS 2553
coding sequence (CDS) position 44
cDNA position
(for ins/del: last normal base / first normal base)		 728
gDNA position
(for ins/del: last normal base / first normal base)		 44848
chromosomal position
(for ins/del: last normal base / first normal base)		 92327045
original gDNA sequence snippet CATCTTTGCCCTGATGAGCTCCTGTTTAGCCACTGCAGGTA
altered gDNA sequence snippet CATCTTTGCCCTGATGAGCTTCTGTTTAGCCACTGCAGGTA
original cDNA sequence snippet CATCTTTGCCCTGATGAGCTCCTGTTTAGCCACTGCAGGTC
altered cDNA sequence snippet CATCTTTGCCCTGATGAGCTTCTGTTTAGCCACTGCAGGTC
wildtype AA sequence MTSHYVIAIF ALMSSCLATA GPEPGALCEL SPVSASHPVQ ALMESFTVLS GCASRGTTGL
PQEVHVLNLR TAGQGPGQLQ REVTLHLNPI SSVHIHHKSV VFLLNSPHPL VWHLKTERLA
TGVSRLFLVS EGSVVQFSSA NFSLTAETEE RNFPHGNEHL LNWARKEYGA VTSFTELKIA
RNIYIKVGED QVFPPKCNIG KNFLSLNYLA EYLQPKAAEG CVMSSQPQNE EVHIIELITP
NSNPYSAFQV DITIDIRPSQ EDLEVVKNLI LILKCKKSVN WVIKSFDVKG SLKIIAPNSI
GFGKESERSM TMTKSIRDDI PSTQGNLVKW ALDNGYSPIT SYTMAPVANR FHLRLENNEE
MGDEEVHTIP PELRILLDPG ALPALQNPPI RGGEGQNGGL PFPFPDISRR VWNEEGEDGL
PRPKDPVIPS IQLFPGLREP EEVQGSVDIA LSVKCDNEKM IVAVEKDSFQ ASGYSGMDVT
LLDPTCKAKM NGTHFVLESP LNGCGTRPRW SALDGVVYYN SIVIQVPALG DSSGWPDGYE
DLESGDNGFP GDMDEGDASL FTRPEIVVFN CSLQQVRNPS SFQEQPHGNI TFNMELYNTD
LFLVPSQGVF SVPENGHVYV EVSVTKAEQE LGFAIQTCFI SPYSNPDRMS HYTIIENICP
KDESVKFYSP KRVHFPIPQA DMDKKRFSFV FKPVFNTSLL FLQCELTLCT KMEKHPQKLP
KCVPPDEACT SLDASIIWAM MQNKKTFTKP LAVIHHEAES KEKGPSMKEP NPISPPIFHG
LDTLTVMGIA FAAFVIGALL TGALWYIYSH TGETAGRQQV PTSPPASENS SAAHSIGSTQ
STPCSSSSTA *
mutated AA sequence MTSHYVIAIF ALMSFCLATA GPEPGALCEL SPVSASHPVQ ALMESFTVLS GCASRGTTGL
PQEVHVLNLR TAGQGPGQLQ REVTLHLNPI SSVHIHHKSV VFLLNSPHPL VWHLKTERLA
TGVSRLFLVS EGSVVQFSSA NFSLTAETEE RNFPHGNEHL LNWARKEYGA VTSFTELKIA
RNIYIKVGED QVFPPKCNIG KNFLSLNYLA EYLQPKAAEG CVMSSQPQNE EVHIIELITP
NSNPYSAFQV DITIDIRPSQ EDLEVVKNLI LILKCKKSVN WVIKSFDVKG SLKIIAPNSI
GFGKESERSM TMTKSIRDDI PSTQGNLVKW ALDNGYSPIT SYTMAPVANR FHLRLENNEE
MGDEEVHTIP PELRILLDPG ALPALQNPPI RGGEGQNGGL PFPFPDISRR VWNEEGEDGL
PRPKDPVIPS IQLFPGLREP EEVQGSVDIA LSVKCDNEKM IVAVEKDSFQ ASGYSGMDVT
LLDPTCKAKM NGTHFVLESP LNGCGTRPRW SALDGVVYYN SIVIQVPALG DSSGWPDGYE
DLESGDNGFP GDMDEGDASL FTRPEIVVFN CSLQQVRNPS SFQEQPHGNI TFNMELYNTD
LFLVPSQGVF SVPENGHVYV EVSVTKAEQE LGFAIQTCFI SPYSNPDRMS HYTIIENICP
KDESVKFYSP KRVHFPIPQA DMDKKRFSFV FKPVFNTSLL FLQCELTLCT KMEKHPQKLP
KCVPPDEACT SLDASIIWAM MQNKKTFTKP LAVIHHEAES KEKGPSMKEP NPISPPIFHG
LDTLTVMGIA FAAFVIGALL TGALWYIYSH TGETAGRQQV PTSPPASENS SAAHSIGSTQ
STPCSSSSTA *
speed 1.32 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