Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999997502316073 (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) chr16:29908433C>GN/A show variant in all transcripts   IGV
HGNC symbol SEZ6L2
Ensembl transcript ID ENST00000537485
Genbank transcript ID NM_001243333
UniProt peptide Q6UXD5
alteration type single base exchange
alteration region CDS
DNA changes c.89G>C
cDNA.179G>C
g.2436G>C
AA changes R30P Score: 103 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 30
frameshift no
known variant Reference ID: rs11649499
databasehomozygous (G/G)heterozygousallele carriers
1000G15177272244
ExAC25092-174177675
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.3430.996
0.2670.995
(flanking)1.9890.996
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 10
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      30LLSCPWIQGSDRDPTLATPPAGQT
mutated  not conserved    30LLSCPWIQGSDPDPTLATPPAGQ
Ptroglodytes  not conserved  ENSPTRG00000007973  63RRGPEMGYLPGSDPDPTLATPPAGQ
Mmulatta  not conserved  ENSMMUG00000018986  63RRGPEMGYLPGSDPDPTLATPPAGQ
Fcatus  not conserved  ENSFCAG00000014159  47YLPGSDPDPTLATPPAGQ
Mmusculus  not conserved  ENSMUSG00000030683  63RKGPEIGFLPGSDPDPTLATPPAGQ
Ggallus  no homologue    
Trubripes  not conserved  ENSTRUG00000003228  29LRSKEYLGESSENAPLAGTTTNP
Drerio  not conserved  ENSDARG00000076052  66PGSRGTTTNPTQAVPSIKE
Dmelanogaster  no alignment  FBgn0001083  n/a
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000011339  n/a
protein features
start (aa)end (aa)featuredetails 
28844TOPO_DOMExtracellular (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2640 / 2640
position (AA) of stopcodon in wt / mu AA sequence 880 / 880
position of stopcodon in wt / mu cDNA 2730 / 2730
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 91 / 91
chromosome 16
strand -1
last intron/exon boundary 2701
theoretical NMD boundary in CDS 2560
length of CDS 2640
coding sequence (CDS) position 89
cDNA position
(for ins/del: last normal base / first normal base)		 179
gDNA position
(for ins/del: last normal base / first normal base)		 2436
chromosomal position
(for ins/del: last normal base / first normal base)		 29908433
original gDNA sequence snippet CACTGTCCCAGGATCTGATCGGGACCCCACGCTAGCCACCC
altered gDNA sequence snippet CACTGTCCCAGGATCTGATCCGGACCCCACGCTAGCCACCC
original cDNA sequence snippet CTGGATCCAGGGATCTGATCGGGACCCCACGCTAGCCACCC
altered cDNA sequence snippet CTGGATCCAGGGATCTGATCCGGACCCCACGCTAGCCACCC
wildtype AA sequence MGTPRAQHPP PPQLLFLILL SCPWIQGSDR DPTLATPPAG QTLAVPSLPR ATEPGTGPLT
TAVTPNGVRG AGPTAPELLT PPPGTTAPPP PSPASPGPPL GPEGGEEETT TTIITTTTVT
TTVTSPVLCN NNISEGEGYV ESPDLGSPVS RTLGLLDCTY SIHVYPGYGI EIQVQTLNLS
QEEELLVLAG GGSPGLAPRL LANSSMLGEG QVLRSPTNRL LLHFQSPRVP RGGGFRIHYQ
AYLLSCGFPP RPAHGDVSVT DLHPGGTATF HCDSGYQLQG EETLICLNGT RPSWNGETPS
CMASCGGTIH NATLGRIVSP EPGGAVGPNL TCRWVIEAAE GRRLHLHFER VSLDEDNDRL
MVRSGGSPLS PVIYDSDMDD VPERGLISDA QSLYVELLSE TPANPLLLSL RFEAFEEDRC
FAPFLAHGNV TTTDPEYRPG ALATFSCLPG YALEPPGPPN AIECVDPTEP HWNDTEPACK
AMCGGELSEP AGVVLSPDWP QSYSPGQDCV WGVHVQEEKR ILLQVEILNV REGDMLTLFD
GDGPSARVLA QLRGPQPRRR LLSSGPDLTL QFQAPPGPPN PGLGQGFVLH FKEVPRNDTC
PELPPPEWGW RTASHGDLIR GTVLTYQCEP GYELLGSDIL TCQWDLSWSA APPACQKIMT
CADPGEIANG HRTASDAGFP VGSHVQYRCL PGYSLEGAAM LTCYSRDTGT PKWSDRVPKC
ALKYEPCLNP GVPENGYQTL YKHHYQAGES LRFFCYEGFE LIGEVTITCV PGHPSQWTSQ
PPLCKVAYEE LLDNRKLEVT QTTDPSRQLE GGNLALAILL PLGLVIVLGS GVYIYYTKLQ
GKSLFGFSGS HSYSPITVES DFSNPLYEAG DTREYEVSI*
mutated AA sequence MGTPRAQHPP PPQLLFLILL SCPWIQGSDP DPTLATPPAG QTLAVPSLPR ATEPGTGPLT
TAVTPNGVRG AGPTAPELLT PPPGTTAPPP PSPASPGPPL GPEGGEEETT TTIITTTTVT
TTVTSPVLCN NNISEGEGYV ESPDLGSPVS RTLGLLDCTY SIHVYPGYGI EIQVQTLNLS
QEEELLVLAG GGSPGLAPRL LANSSMLGEG QVLRSPTNRL LLHFQSPRVP RGGGFRIHYQ
AYLLSCGFPP RPAHGDVSVT DLHPGGTATF HCDSGYQLQG EETLICLNGT RPSWNGETPS
CMASCGGTIH NATLGRIVSP EPGGAVGPNL TCRWVIEAAE GRRLHLHFER VSLDEDNDRL
MVRSGGSPLS PVIYDSDMDD VPERGLISDA QSLYVELLSE TPANPLLLSL RFEAFEEDRC
FAPFLAHGNV TTTDPEYRPG ALATFSCLPG YALEPPGPPN AIECVDPTEP HWNDTEPACK
AMCGGELSEP AGVVLSPDWP QSYSPGQDCV WGVHVQEEKR ILLQVEILNV REGDMLTLFD
GDGPSARVLA QLRGPQPRRR LLSSGPDLTL QFQAPPGPPN PGLGQGFVLH FKEVPRNDTC
PELPPPEWGW RTASHGDLIR GTVLTYQCEP GYELLGSDIL TCQWDLSWSA APPACQKIMT
CADPGEIANG HRTASDAGFP VGSHVQYRCL PGYSLEGAAM LTCYSRDTGT PKWSDRVPKC
ALKYEPCLNP GVPENGYQTL YKHHYQAGES LRFFCYEGFE LIGEVTITCV PGHPSQWTSQ
PPLCKVAYEE LLDNRKLEVT QTTDPSRQLE GGNLALAILL PLGLVIVLGS GVYIYYTKLQ
GKSLFGFSGS HSYSPITVES DFSNPLYEAG DTREYEVSI*
speed 0.54 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