Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999991692217097 (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
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analysed issue analysis result
name of alteration no title
alteration (phys. location) chr22:26695077G>TN/A show variant in all transcripts   IGV
HGNC symbol SEZ6L
Ensembl transcript ID ENST00000248933
Genbank transcript ID NM_021115
UniProt peptide Q9BYH1
alteration type single base exchange
alteration region CDS
DNA changes c.1290G>T
cDNA.1385G>T
g.129638G>T
AA changes M430I Score: 10 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 430
frameshift no
known variant Reference ID: rs663048
databasehomozygous (T/T)heterozygousallele carriers
1000G134673807
ExAC26451817720822
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.3510.028
0.0980.085
(flanking)3.4590.996
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased129640wt: 0.9806 / mu: 0.9887 (marginal change - not scored)wt: GATGCTGACATGCAT
mu: GATTCTGACATGCAT		 TGCT|gaca
distance from splice site 59
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      430CHLGYELQGAKMLTCINASKPHWS
mutated  all conserved    430LGYELQGAKILTCINASKPHW
Ptroglodytes  all identical  ENSPTRG00000014192  430LGYELQGAKMLTCINASKPHW
Mmulatta  all identical  ENSMMUG00000016052  153CHLGYELQGAKMLTCINASKPHW
Fcatus  not conserved  ENSFCAG00000010712  389CHLGYELQGAKTLTCINASKPHW
Mmusculus  not conserved  ENSMUSG00000058153  370HLGYELQGAKTLTCINASKPHW
Ggallus  all identical  ENSGALG00000005577  305CHLGYELQGPHMLTCINASRPHW
Trubripes  not conserved  ENSTRUG00000018614  163CHMGYHLQGEPQLTCLNASLPVW
Drerio  not conserved  ENSDARG00000076028  337CHMGYHLQGDATLTCLNASLPV
Dmelanogaster  no alignment  FBgn0001083  n/a
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000004211  327CNMGYELQGSKNLTCLNA
protein features
start (aa)end (aa)featuredetails 
29958TOPO_DOMExtracellular (Potential).lost
391450DOMAINSushi 1.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3075 / 3075
position (AA) of stopcodon in wt / mu AA sequence 1025 / 1025
position of stopcodon in wt / mu cDNA 3170 / 3170
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 96 / 96
chromosome 22
strand 1
last intron/exon boundary 3141
theoretical NMD boundary in CDS 2995
length of CDS 3075
coding sequence (CDS) position 1290
cDNA position
(for ins/del: last normal base / first normal base)		 1385
gDNA position
(for ins/del: last normal base / first normal base)		 129638
chromosomal position
(for ins/del: last normal base / first normal base)		 26695077
original gDNA sequence snippet GAGCTCCAGGGCGCTAAGATGCTGACATGCATCAATGCCTC
altered gDNA sequence snippet GAGCTCCAGGGCGCTAAGATTCTGACATGCATCAATGCCTC
original cDNA sequence snippet GAGCTCCAGGGCGCTAAGATGCTGACATGCATCAATGCCTC
altered cDNA sequence snippet GAGCTCCAGGGCGCTAAGATTCTGACATGCATCAATGCCTC
wildtype AA sequence MPAARPPAAG LRGISLFLAL LLGSPAAALE RDALPEGDAS PLGPYLLPSG APERGSPGKE
HPEERVVTAP PSSSQSAEVL GELVLDGTAP SAHHDIPALS PLLPEEARPK HALPPKKKLP
SLKQVNSARK QLRPKATSAA TVQRAGSQPA SQGLDLLSSS TEKPGPPGDP DPIVASEEAS
EVPLWLDRKE SAVPTTPAPL QISPFTSQPY VAHTLPQRPE PGEPGPDMAQ EAPQEDTSPM
ALMDKGENEL TGSASEESQE TTTSTIITTT VITTEQAPAL CSVSFSNPEG YIDSSDYPLL
PLNNFLECTY NVTVYTGYGV ELQVKSVNLS DGELLSIRGV DGPTLTVLAN QTLLVEGQVI
RSPTNTISVY FRTFQDDGLG TFQLHYQAFM LSCNFPRRPD SGDVTVMDLH SGGVAHFHCH
LGYELQGAKM LTCINASKPH WSSQEPICSA PCGGAVHNAT IGRVLSPSYP ENTNGSQFCI
WTIEAPEGQK LHLHFERLLL HDKDRMTVHS GQTNKSALLY DSLQTESVPF EGLLSEGNTI
RIEFTSDQAR AASTFNIRFE AFEKGHCYEP YIQNGNFTTS DPTYNIGTIV EFTCDPGHSL
EQGPAIIECI NVRDPYWNDT EPLCRAMCGG ELSAVAGVVL SPNWPEPYVE GEDCIWKIHV
GEEKRIFLDI QFLNLSNSDI LTIYDGDEVM PHILGQYLGN SGPQKLYSST PDLTIQFHSD
PAGLIFGKGQ GFIMNYIEVS RNDSCSDLPE IQNGWKTTSH TELVRGARIT YQCDPGYDIV
GSDTLTCQWD LSWSSDPPFC EKIMYCTDPG EVDHSTRLIS DPVLLVGTTI QYTCNPGFVL
EGSSLLTCYS RETGTPIWTS RLPHCVSEES LACDNPGLPE NGYQILYKRL YLPGESLTFM
CYEGFELMGE VTIRCILGQP SHWNGPLPVC KVNQDSFEHA LEVAEAAAET SLEGGNMALA
IFIPVLIISL LLGGAYIYIT RCRYYSNLRL PLMYSHPYSQ ITVETEFDNP IYETGETREY
EVSI*
mutated AA sequence MPAARPPAAG LRGISLFLAL LLGSPAAALE RDALPEGDAS PLGPYLLPSG APERGSPGKE
HPEERVVTAP PSSSQSAEVL GELVLDGTAP SAHHDIPALS PLLPEEARPK HALPPKKKLP
SLKQVNSARK QLRPKATSAA TVQRAGSQPA SQGLDLLSSS TEKPGPPGDP DPIVASEEAS
EVPLWLDRKE SAVPTTPAPL QISPFTSQPY VAHTLPQRPE PGEPGPDMAQ EAPQEDTSPM
ALMDKGENEL TGSASEESQE TTTSTIITTT VITTEQAPAL CSVSFSNPEG YIDSSDYPLL
PLNNFLECTY NVTVYTGYGV ELQVKSVNLS DGELLSIRGV DGPTLTVLAN QTLLVEGQVI
RSPTNTISVY FRTFQDDGLG TFQLHYQAFM LSCNFPRRPD SGDVTVMDLH SGGVAHFHCH
LGYELQGAKI LTCINASKPH WSSQEPICSA PCGGAVHNAT IGRVLSPSYP ENTNGSQFCI
WTIEAPEGQK LHLHFERLLL HDKDRMTVHS GQTNKSALLY DSLQTESVPF EGLLSEGNTI
RIEFTSDQAR AASTFNIRFE AFEKGHCYEP YIQNGNFTTS DPTYNIGTIV EFTCDPGHSL
EQGPAIIECI NVRDPYWNDT EPLCRAMCGG ELSAVAGVVL SPNWPEPYVE GEDCIWKIHV
GEEKRIFLDI QFLNLSNSDI LTIYDGDEVM PHILGQYLGN SGPQKLYSST PDLTIQFHSD
PAGLIFGKGQ GFIMNYIEVS RNDSCSDLPE IQNGWKTTSH TELVRGARIT YQCDPGYDIV
GSDTLTCQWD LSWSSDPPFC EKIMYCTDPG EVDHSTRLIS DPVLLVGTTI QYTCNPGFVL
EGSSLLTCYS RETGTPIWTS RLPHCVSEES LACDNPGLPE NGYQILYKRL YLPGESLTFM
CYEGFELMGE VTIRCILGQP SHWNGPLPVC KVNQDSFEHA LEVAEAAAET SLEGGNMALA
IFIPVLIISL LLGGAYIYIT RCRYYSNLRL PLMYSHPYSQ ITVETEFDNP IYETGETREY
EVSI*
speed 1.13 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