Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999459820046 (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 ENST00000346932
Genbank transcript ID NM_001114100
UniProt peptide Q6UXD5
alteration type single base exchange
alteration region CDS
DNA changes c.221G>C
cDNA.266G>C
g.2436G>C
AA changes R74P Score: 103 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 74
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      74GPEMGYLPGSDRDPTLATPPAGQT
mutated  not conserved    74GPEMGYLPGSDPDPTLATPPAGQ
Ptroglodytes  not conserved  ENSPTRG00000007973  74GPEMGYLPGSDPDPTLATPPAGQ
Mmulatta  not conserved  ENSMMUG00000018986  74GPEMGYLPGSDPDPTLATPPAGQ
Fcatus  not conserved  ENSFCAG00000014159  47GPEMGYLPGSDPDPTLATPPAGQ
Mmusculus  not conserved  ENSMUSG00000030683  74GPEIGFLPGSDPDPTLATPPAGQ
Ggallus  no homologue    
Trubripes  no alignment  ENSTRUG00000003228  n/a
Drerio  not conserved  ENSDARG00000076052  62-EYLGHTPGSRGTTT------NP
Dmelanogaster  no alignment  FBgn0001083  n/a
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000011339  73TTAIPTRAAPI---
protein features
start (aa)end (aa)featuredetails 
28844TOPO_DOMExtracellular (Potential).lost
70146COMPBIASPro-rich.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2430 / 2430
position (AA) of stopcodon in wt / mu AA sequence 810 / 810
position of stopcodon in wt / mu cDNA 2475 / 2475
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 46 / 46
chromosome 16
strand -1
last intron/exon boundary 2446
theoretical NMD boundary in CDS 2350
length of CDS 2430
coding sequence (CDS) position 221
cDNA position
(for ins/del: last normal base / first normal base)		 266
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 CTACCTGCCAGGATCTGATCGGGACCCCACGCTAGCCACCC
altered cDNA sequence snippet CTACCTGCCAGGATCTGATCCGGACCCCACGCTAGCCACCC
wildtype AA sequence MGTPRAQHPP PPQLLFLILL SCPWIQGLPL KEEEILPEPG SETPTVASEA LAELLHGALL
RRGPEMGYLP GSDRDPTLAT PPAGQTLAVP SLPRATEPGT GPLTTAVTPN GVRGAGPTAP
ELLTPPPGTT APPPPSPASP GPPLGPEGGE EETTTTIITT TTVTTTVTSP 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 SCPWIQGLPL KEEEILPEPG SETPTVASEA LAELLHGALL
RRGPEMGYLP GSDPDPTLAT PPAGQTLAVP SLPRATEPGT GPLTTAVTPN GVRGAGPTAP
ELLTPPPGTT APPPPSPASP GPPLGPEGGE EETTTTIITT TTVTTTVTSP 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 0.96 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