Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999996351947799 (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) chr14:51202311G>CN/A show variant in all transcripts   IGV
HGNC symbol NIN
Ensembl transcript ID ENST00000382043
Genbank transcript ID NM_016350
UniProt peptide Q8N4C6
alteration type single base exchange
alteration region CDS
DNA changes c.3661C>G
cDNA.3698C>G
g.95529C>G
AA changes Q1221E Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1221
frameshift no
known variant Reference ID: rs2295847
databasehomozygous (C/C)heterozygousallele carriers
1000G197574771
ExAC22251355415779
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2390.999
1.8021
(flanking)1.3381
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased95529wt: 0.27 / mu: 0.35wt: TTGAACAAGAATTAG
mu: TTGAAGAAGAATTAG		 GAAC|aaga
Donor marginally increased95526wt: 0.7615 / mu: 0.7686 (marginal change - not scored)wt: CCCTTGAACAAGAAT
mu: CCCTTGAAGAAGAAT		 CTTG|aaca
Donor gained955230.95mu: ATTCCCTTGAAGAAG TCCC|ttga
Donor gained955280.61mu: CTTGAAGAAGAATTA TGAA|gaag
distance from splice site 25
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1221NRKVSQMNSLEQELETIHLENEGL
mutated  all conserved    1221NRKVSQMNSLEEELETIHLENEG
Ptroglodytes  not conserved  ENSPTRG00000006335  1191EGFSELENSEET-RTESWE
Mmulatta  all identical  ENSMMUG00000014658  1226CADCDRASEKKQDL----LFDVS
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000021068  1185---LDCFSELENSEDT-RTESWD
Ggallus  no homologue    
Trubripes  not conserved  ENSTRUG00000008553  1239----CAGGQGHVRLESLQ
Drerio  all conserved  ENSDARG00000060298  1165QKSLSALESRREVLSFQSME
Dmelanogaster  no alignment  FBgn0000228  n/a
Celegans  no alignment  T04F8.6  n/a
Xtropicalis  not conserved  ENSXETG00000016467  1199KKVISSEEFTVPDLEQTA
protein features
start (aa)end (aa)featuredetails 
11811341COILEDPotential.lost
12371237CONFLICTM -> I (in Ref. 1; AAF23015).might get lost (downstream of altered splice site)
14411816COILEDPotential.might get lost (downstream of altered splice site)
15501550MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
18541885COILEDPotential.might get lost (downstream of altered splice site)
19222067COILEDPotential.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4134 / 4134
position (AA) of stopcodon in wt / mu AA sequence 1378 / 1378
position of stopcodon in wt / mu cDNA 4171 / 4171
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 38 / 38
chromosome 14
strand -1
last intron/exon boundary 3977
theoretical NMD boundary in CDS 3889
length of CDS 4134
coding sequence (CDS) position 3661
cDNA position
(for ins/del: last normal base / first normal base)		 3698
gDNA position
(for ins/del: last normal base / first normal base)		 95529
chromosomal position
(for ins/del: last normal base / first normal base)		 51202311
original gDNA sequence snippet GTCAGATGAATTCCCTTGAACAAGAATTAGAAACAATTCAT
altered gDNA sequence snippet GTCAGATGAATTCCCTTGAAGAAGAATTAGAAACAATTCAT
original cDNA sequence snippet GTCAGATGAATTCCCTTGAACAAGAATTAGAAACAATTCAT
altered cDNA sequence snippet GTCAGATGAATTCCCTTGAAGAAGAATTAGAAACAATTCAT
wildtype AA sequence MDEVEQDQHE ARLKELFDSF DTTGTGSLGQ EELTDLCHML SLEEVAPVLQ QTLLQDNLLG
RVHFDQFKEA LILILSRTLS NEEHFQEPDC SLEAQPKYVR GGKRYGRRSL PEFQESVEEF
PEVTVIEPLD EEARPSHIPA GDCSEHWKTQ RSEEYEAEGQ LRFWNPDDLN ASQSGSSPPQ
DWIEEKLQEV CEDLGITRDG HLNRKKLVSI CEQYGLQNVD GEMLEEVFHN LDPDGTMSVE
DFFYGLFKNG KSLTPSASTP YRQLKRHLSM QSFDESGRRT TTSSAMTSTI GFRVFSCLDD
GMGHASVERI LDTWQEEGIE NSQEILKALD FSLDGNINLT ELTLALENEL LVTKNSIHQA
ALASFKAEIR HLLERVDQVV REKEKLRSDL DKAEKLKSLM ASEVDDHHAA IERRNEYNLR
KLDEEYKERI AALKNELRKE REQILQQAGK QRLELEQEIE KAKTEENYIR DRLALSLKEN
SRLENELLEN AEKLAEYENL TNKLQRNLEN VLAEKFGDLD PSSAEFFLQE ERLTQMRNEY
ERQCRVLQDQ VDELQSELEE YRAQGRVLRL PLKNSPSEEV EANSGGIEPE HGLGSEECNP
LNMSIEAELV IEQMKEQHHR DICCLRLELE DKVRHYEKQL DETVVSCKKA QENMKQRHEN
ETHTLEKQIS DLKNEIAELQ GQAAVLKEAH HEATCRHEEE KKQLQVKLEE EKTHLQEKLR
LQHEMELKAR LTQAQASFER EREGLQSSAW TEEKVRGLTQ ELEQFHQEQL TSLVEKHTLE
KEELRKELLE KHQRELQEGR YESEKLQQEN SILRNEITTL NEEDSISNLK LGTLNGSQEE
MWQKTETVKQ ENAAVQKMVE NLKKQISELK IKNQQLDLEN TELSQKNSQN QEKLQELNQR
LTEMLCQKEK EPGNSALEER EQEKFNLKEE LERCKVQSST LVSSLEAELS EVKIQTHIVQ
QENHLLKDEL EKMKQLHRCP DLSDFQQKIS SVLSYNEKLL KEKEALSEEL NSCVDKLAKS
SLLEHRIATM KQEQKSWEHQ SASLKSQLVA SQEKVQNLED TVQNVNLQMS RMKSDLRVTQ
QEKEALKQEV MSLHKQLQNA GGKSWAPEIA THPSGLHNQQ KRLSWDKLDH LMNEEQQLLW
QENERLQTMV QNTKAELTHS REKVRQLESN LLPKHQKHLN PSGTMNPTEQ EKLSLKRECD
QFQKEQSPAN RKVSQMNSLE QELETIHLEN EGLKKKQVKL DEQLMEMQHL RSTATPSPSP
HAWDLQLLQQ QACPMVPREQ FLQLQRQLLQ AERINQHLQE ELENRTSETN TPQGNQEQLV
TVMEERMIEV EQKLKLVKRL LQEKVNQLKE QVSLPGHLCS PTSHSSFNSS FTSLYCH*
mutated AA sequence MDEVEQDQHE ARLKELFDSF DTTGTGSLGQ EELTDLCHML SLEEVAPVLQ QTLLQDNLLG
RVHFDQFKEA LILILSRTLS NEEHFQEPDC SLEAQPKYVR GGKRYGRRSL PEFQESVEEF
PEVTVIEPLD EEARPSHIPA GDCSEHWKTQ RSEEYEAEGQ LRFWNPDDLN ASQSGSSPPQ
DWIEEKLQEV CEDLGITRDG HLNRKKLVSI CEQYGLQNVD GEMLEEVFHN LDPDGTMSVE
DFFYGLFKNG KSLTPSASTP YRQLKRHLSM QSFDESGRRT TTSSAMTSTI GFRVFSCLDD
GMGHASVERI LDTWQEEGIE NSQEILKALD FSLDGNINLT ELTLALENEL LVTKNSIHQA
ALASFKAEIR HLLERVDQVV REKEKLRSDL DKAEKLKSLM ASEVDDHHAA IERRNEYNLR
KLDEEYKERI AALKNELRKE REQILQQAGK QRLELEQEIE KAKTEENYIR DRLALSLKEN
SRLENELLEN AEKLAEYENL TNKLQRNLEN VLAEKFGDLD PSSAEFFLQE ERLTQMRNEY
ERQCRVLQDQ VDELQSELEE YRAQGRVLRL PLKNSPSEEV EANSGGIEPE HGLGSEECNP
LNMSIEAELV IEQMKEQHHR DICCLRLELE DKVRHYEKQL DETVVSCKKA QENMKQRHEN
ETHTLEKQIS DLKNEIAELQ GQAAVLKEAH HEATCRHEEE KKQLQVKLEE EKTHLQEKLR
LQHEMELKAR LTQAQASFER EREGLQSSAW TEEKVRGLTQ ELEQFHQEQL TSLVEKHTLE
KEELRKELLE KHQRELQEGR YESEKLQQEN SILRNEITTL NEEDSISNLK LGTLNGSQEE
MWQKTETVKQ ENAAVQKMVE NLKKQISELK IKNQQLDLEN TELSQKNSQN QEKLQELNQR
LTEMLCQKEK EPGNSALEER EQEKFNLKEE LERCKVQSST LVSSLEAELS EVKIQTHIVQ
QENHLLKDEL EKMKQLHRCP DLSDFQQKIS SVLSYNEKLL KEKEALSEEL NSCVDKLAKS
SLLEHRIATM KQEQKSWEHQ SASLKSQLVA SQEKVQNLED TVQNVNLQMS RMKSDLRVTQ
QEKEALKQEV MSLHKQLQNA GGKSWAPEIA THPSGLHNQQ KRLSWDKLDH LMNEEQQLLW
QENERLQTMV QNTKAELTHS REKVRQLESN LLPKHQKHLN PSGTMNPTEQ EKLSLKRECD
QFQKEQSPAN RKVSQMNSLE EELETIHLEN EGLKKKQVKL DEQLMEMQHL RSTATPSPSP
HAWDLQLLQQ QACPMVPREQ FLQLQRQLLQ AERINQHLQE ELENRTSETN TPQGNQEQLV
TVMEERMIEV EQKLKLVKRL LQEKVNQLKE QVSLPGHLCS PTSHSSFNSS FTSLYCH*
speed 1.26 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