Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999997601979631 (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) chr6:123869607G>CN/A show variant in all transcripts   IGV
HGNC symbol TRDN
Ensembl transcript ID ENST00000398178
Genbank transcript ID NM_006073
UniProt peptide Q13061
alteration type single base exchange
alteration region CDS
DNA changes c.383C>G
cDNA.405C>G
g.88632C>G
AA changes T128S Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS
128
frameshift no
known variant Reference ID: rs9490809
databasehomozygous (C/C)heterozygousallele carriers
1000G48210041486
ExAC87331530124034
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0160.857
0.3140.868
(flanking)0.9930.882
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained886260.90mu: TGACGAAGATAGTGA ACGA|agat
Donor gained886310.79mu: AAGATAGTGATAAAG GATA|gtga
distance from splice site 9
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      128EDEEDDDGDEDTDKGEIDEPPLRK
mutated  all conserved    128DDDGDEDSDKGEIDEPPLR
Ptroglodytes  no alignment  ENSPTRG00000018567  n/a
Mmulatta  no alignment  ENSMMUG00000009725  n/a
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000019787  129DDEDADEDIDKGEIEEPPLK
Ggallus  not conserved  ENSGALG00000014848  127SDEGIHNQNKGEIMKPPLE
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
69729TOPO_DOMLumenal.lost
270270DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
270270DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
409409MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
647647CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
678678MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
680680MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
691691DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
691691DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2190 / 2190
position (AA) of stopcodon in wt / mu AA sequence 730 / 730
position of stopcodon in wt / mu cDNA 2212 / 2212
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 23 / 23
chromosome 6
strand -1
last intron/exon boundary 2073
theoretical NMD boundary in CDS 2000
length of CDS 2190
coding sequence (CDS) position 383
cDNA position
(for ins/del: last normal base / first normal base)
405
gDNA position
(for ins/del: last normal base / first normal base)
88632
chromosomal position
(for ins/del: last normal base / first normal base)
123869607
original gDNA sequence snippet TGATGATGGTGACGAAGATACTGATAAAGGTACAAAGAACA
altered gDNA sequence snippet TGATGATGGTGACGAAGATAGTGATAAAGGTACAAAGAACA
original cDNA sequence snippet TGATGATGGTGACGAAGATACTGATAAAGGAGAAATAGATG
altered cDNA sequence snippet TGATGATGGTGACGAAGATAGTGATAAAGGAGAAATAGATG
wildtype AA sequence MTEITAEGNA STTTTVIDSK NGSVPKSPGK VLKRTVTEDI VTTFSSPAAW LLVIALIITW
SAVAIVMFDL VDYKNFSASS IAKIGSDPLK LVRDAMEETT DWIYGFFSLL SDIISSEDEE
DDDGDEDTDK GEIDEPPLRK KEIHKDKTEK QEKPERKIQT KVTHKEKEKG KEKVREKEKP
EKKATHKEKI EKKEKPETKT LAKEQKKAKT AEKSEEKTKK EVKGGKQEKV KQTAAKVKEV
QKTPSKPKEK EDKEKAAVSK HEQKDQYAFC RYMIDIFVHG DLKPGQSPAI PPPLPTEQAS
RPTPASPALE EKEGEKKKAE KKVTSETKKK EKEDIKKKSE KETAIDVEKK EPGKASETKQ
GTVKIAAQAA AKKDEKKEDS KKTKKPAEVE QPKGKKQEKK EKHVEPAKSP KKEHSVPSDK
QVKAKTERAK EEIGAVSIKK AVPGKKEEKT TKTVEQEIRK EKSGKTSSIL KDKEPIKGKE
EKVPASLKEK EPETKKDEKM SKAGKEVKPK PPQLQGKKEE KPEPQIKKEA KPAISEKVQI
HKQDIVKPEK TVSHGKPEEK VLKQVKAVTI EKTAKPKPTK KAEHREREPP SIKTDKPKPT
PKGTSEVTES GKKKTEISEK ESKEKADMKH LREEKVSTRK ESLQLHNVTK AEKPARVSKD
VEDVPASKKA KEGTEDVSPT KQKSPISFFQ CVYLDGYNGY GFQFPFTPAD RPGESSGQAN
SPGQKQQGQ*
mutated AA sequence MTEITAEGNA STTTTVIDSK NGSVPKSPGK VLKRTVTEDI VTTFSSPAAW LLVIALIITW
SAVAIVMFDL VDYKNFSASS IAKIGSDPLK LVRDAMEETT DWIYGFFSLL SDIISSEDEE
DDDGDEDSDK GEIDEPPLRK KEIHKDKTEK QEKPERKIQT KVTHKEKEKG KEKVREKEKP
EKKATHKEKI EKKEKPETKT LAKEQKKAKT AEKSEEKTKK EVKGGKQEKV KQTAAKVKEV
QKTPSKPKEK EDKEKAAVSK HEQKDQYAFC RYMIDIFVHG DLKPGQSPAI PPPLPTEQAS
RPTPASPALE EKEGEKKKAE KKVTSETKKK EKEDIKKKSE KETAIDVEKK EPGKASETKQ
GTVKIAAQAA AKKDEKKEDS KKTKKPAEVE QPKGKKQEKK EKHVEPAKSP KKEHSVPSDK
QVKAKTERAK EEIGAVSIKK AVPGKKEEKT TKTVEQEIRK EKSGKTSSIL KDKEPIKGKE
EKVPASLKEK EPETKKDEKM SKAGKEVKPK PPQLQGKKEE KPEPQIKKEA KPAISEKVQI
HKQDIVKPEK TVSHGKPEEK VLKQVKAVTI EKTAKPKPTK KAEHREREPP SIKTDKPKPT
PKGTSEVTES GKKKTEISEK ESKEKADMKH LREEKVSTRK ESLQLHNVTK AEKPARVSKD
VEDVPASKKA KEGTEDVSPT KQKSPISFFQ CVYLDGYNGY GFQFPFTPAD RPGESSGQAN
SPGQKQQGQ*
speed 0.59 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