Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999994997098302 (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 ENST00000402979
Genbank transcript ID N/A
UniProt peptide Q9BYH1
alteration type single base exchange
alteration region CDS
DNA changes c.609G>T
cDNA.1351G>T
g.129638G>T
AA changes M203I Score: 10 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 203
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      203CHLGYELQGAKMLTCINASKPHWS
mutated  all conserved    203CHLGYELQGAKILTCINASKPHW
Ptroglodytes  all identical  ENSPTRG00000014192  430CQLGYELQGAKMLTCINASKPHW
Mmulatta  all identical  ENSMMUG00000016052  153CHLGYELQGAKMLTCINASKPHW
Fcatus  not conserved  ENSFCAG00000010712  389CHLGYELQGAKTLTCINASKPHW
Mmusculus  not conserved  ENSMUSG00000058153  370CHLGYELQGAKTLTCINASKPHW
Ggallus  all identical  ENSGALG00000005577  305YELQGPHMLTCINASRPHW
Trubripes  not conserved  ENSTRUG00000018614  163CHMGYHLQGEPQLTCLNASLPVW
Drerio  not conserved  ENSDARG00000076028  337CHMGYHLQGDATLTCLNASLPVW
Dmelanogaster  no alignment  FBgn0001083  n/a
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000004211  327GSKNLTCLNASKPRW
protein features
start (aa)end (aa)featuredetails 
29958TOPO_DOMExtracellular (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2391 / 2391
position (AA) of stopcodon in wt / mu AA sequence 797 / 797
position of stopcodon in wt / mu cDNA 3133 / 3133
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 743 / 743
chromosome 22
strand 1
last intron/exon boundary 3104
theoretical NMD boundary in CDS 2311
length of CDS 2391
coding sequence (CDS) position 609
cDNA position
(for ins/del: last normal base / first normal base)		 1351
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 MAQEAPQEDT SPMALMDKGE NELTGSASEE SQETTTSTII TTTVITTEQA PALCSVSFSN
PEGYIDSSDY PLLPLNNFLE CTYNVTVYTG YGVELQVKSV NLSDGELLSI RGVDGPTLTV
LANQTLLVEG QVIRSPTNTI SVYFRTFQDD GLGTFQLHYQ AFMLSCNFPR RPDSGDVTVM
DLHSGGVAHF HCHLGYELQG AKMLTCINAS KPHWSSQEPI CSAPCGGAVH NATIGRVLSP
SYPENTNGSQ FCIWTIEAPE GQKLHLHFER LLLHDKDRMT VHSGQTNKSA LLYDSLQTES
VPFEGLLSEG NTIRIEFTSD QARAASTFNI RFEAFEKGHC YEPYIQNGNF TTSDPTYNIG
TIVEFTCDPG HSLEQGPAII ECINVRDPYW NDTEPLCRAM CGGELSAVAG VVLSPNWPEP
YVEGEDCIWK IHVGEEKRIF LDIQFLNLSN SDILTIYDGD EVMPHILGQY LGNSGPQKLY
SSTPDLTIQF HSDPAGLIFG KGQGFIMNYI EVSRNDSCSD LPEIQNGWKT TSHTELVRGA
RITYQCDPGY DIVGSDTLTC QWDLSWSSDP PFCEKIMYCT DPGEVDHSTR LISDPVLLVG
TTIQYTCNPG FVLEGSSLLT CYSRETGTPI WTSRLPHCVS EESLACDNPG LPENGYQILY
KRLYLPGESL TFMCYEGFEL MGEVTIRCIL GQPSHWNGPL PVCKVNQDSF EHALEAEAAA
ETSLEGGNMA LAIFIPVLII SLLLGGAYIY ITRCRYYSNL RLPLMYSHPY SQITVETEFD
NPIYETGETR EYEVSI*
mutated AA sequence MAQEAPQEDT SPMALMDKGE NELTGSASEE SQETTTSTII TTTVITTEQA PALCSVSFSN
PEGYIDSSDY PLLPLNNFLE CTYNVTVYTG YGVELQVKSV NLSDGELLSI RGVDGPTLTV
LANQTLLVEG QVIRSPTNTI SVYFRTFQDD GLGTFQLHYQ AFMLSCNFPR RPDSGDVTVM
DLHSGGVAHF HCHLGYELQG AKILTCINAS KPHWSSQEPI CSAPCGGAVH NATIGRVLSP
SYPENTNGSQ FCIWTIEAPE GQKLHLHFER LLLHDKDRMT VHSGQTNKSA LLYDSLQTES
VPFEGLLSEG NTIRIEFTSD QARAASTFNI RFEAFEKGHC YEPYIQNGNF TTSDPTYNIG
TIVEFTCDPG HSLEQGPAII ECINVRDPYW NDTEPLCRAM CGGELSAVAG VVLSPNWPEP
YVEGEDCIWK IHVGEEKRIF LDIQFLNLSN SDILTIYDGD EVMPHILGQY LGNSGPQKLY
SSTPDLTIQF HSDPAGLIFG KGQGFIMNYI EVSRNDSCSD LPEIQNGWKT TSHTELVRGA
RITYQCDPGY DIVGSDTLTC QWDLSWSSDP PFCEKIMYCT DPGEVDHSTR LISDPVLLVG
TTIQYTCNPG FVLEGSSLLT CYSRETGTPI WTSRLPHCVS EESLACDNPG LPENGYQILY
KRLYLPGESL TFMCYEGFEL MGEVTIRCIL GQPSHWNGPL PVCKVNQDSF EHALEAEAAA
ETSLEGGNMA LAIFIPVLII SLLLGGAYIY ITRCRYYSNL RLPLMYSHPY SQITVETEFD
NPIYETGETR EYEVSI*
speed 0.79 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