Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999691448 (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) chr19:50462298G>CN/A show variant in all transcripts   IGV
HGNC symbol SIGLEC11
Ensembl transcript ID ENST00000458019
Genbank transcript ID N/A
UniProt peptide Q96RL6
alteration type single base exchange
alteration region CDS
DNA changes c.1094C>G
cDNA.1185C>G
g.2132C>G
AA changes A365G Score: 60 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 365
frameshift no
known variant Reference ID: rs62113133
databasehomozygous (C/C)heterozygousallele carriers
1000G123771894
ExAC29072060323510
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0910.03
-0.130.007
(flanking)-0.1190.003
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 increased2137wt: 0.8250 / mu: 0.8284 (marginal change - not scored)wt: CAAACAGGACAGGTA
mu: GAAACAGGACAGGTA		 AACA|ggac
Donor gained21310.49mu: CCCAAGGAAACAGGA CAAG|gaaa
distance from splice site 12
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      365PPENLRVMVSQANRTVLENLGNGT
mutated  not conserved    365MVSQGNRTVLENLGNG
Ptroglodytes  all identical  ENSPTRG00000011328  365MVSQANRTVLENLRNG
Mmulatta  all identical  ENSMMUG00000006385  353PPENLRVMVSQANRTVLEN
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000030468  349PPQDLRVTVSQANRTVLEI
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000089404  341MNKTLNASIT-INITEVNILGE
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
28561TOPO_DOMExtracellular (Potential).lost
355452DOMAINIg-like C2-type 3.lost
365365CONFLICTA -> G (in Ref. 3; AAQ88502).lost
366366CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
375375CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
391391DISULFIDBy similarity.might get lost (downstream of altered splice site)
436436DISULFIDBy similarity.might get lost (downstream of altered splice site)
497497CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
515515CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
562584TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
585698TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
642647MOTIFITIM motif.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1809 / 1809
position (AA) of stopcodon in wt / mu AA sequence 603 / 603
position of stopcodon in wt / mu cDNA 1900 / 1900
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 92 / 92
chromosome 19
strand -1
last intron/exon boundary 1634
theoretical NMD boundary in CDS 1492
length of CDS 1809
coding sequence (CDS) position 1094
cDNA position
(for ins/del: last normal base / first normal base)		 1185
gDNA position
(for ins/del: last normal base / first normal base)		 2132
chromosomal position
(for ins/del: last normal base / first normal base)		 50462298
original gDNA sequence snippet GAGAGTGATGGTTTCCCAAGCAAACAGGACAGGTAGGAAAG
altered gDNA sequence snippet GAGAGTGATGGTTTCCCAAGGAAACAGGACAGGTAGGAAAG
original cDNA sequence snippet GAGAGTGATGGTTTCCCAAGCAAACAGGACAGTCCTGGAAA
altered cDNA sequence snippet GAGAGTGATGGTTTCCCAAGGAAACAGGACAGTCCTGGAAA
wildtype AA sequence MVPGQAQPQS PEMLLLPLLL PVLGAGSLNK DPSYSLQVQR QVPVPEGLCV IVSCNLSYPR
DGWDESTAAY GYWFKGRTSP KTGAPVATNN QSREVEMSTR DRFQLTGDPG KGSCSLVIRD
AQREDEAWYF FRVERGSRVR HSFLSNAFFL KVTALTKKPD VYIPETLEPG QPVTVICVFN
WAFKKCPAPS FSWTGAALSP RRTRPSTSHF SVLSFTPSPQ DHDTDLTCHV DFSRKGVSAQ
RTVRLRVAYA PKDLIISISH DNTSALELQG NVIYLEVQKG QFLRLLCAAD SQPPATLSWV
LQDRVLSSSH PWGPRTLGLE LRGVRAGDSG RYTCRAENRL GSQQQALDLS VQYPPENLRV
MVSQANRTVL ENLGNGTSLP VLEGQSLRLV CVTHSSPPAR LSWTRWGQTV GPSQPSDPGV
LELPPIQMEH EGEFTCHAQH PLGSQHVSLS LSVHWKLEHG GGLGLGAALG AGVAALLAFC
SCLVVFRVKI CRKEARKRAA AEQDVPSTLG PISQGHQHEC SAGSSQDHPP PGAATYTPGK
GEEQELHYAS LSFQGLRLWE PADQEAPSTT EYSEIKIHTG QPLRGPGFGL QLEREMSGMV
PK*
mutated AA sequence MVPGQAQPQS PEMLLLPLLL PVLGAGSLNK DPSYSLQVQR QVPVPEGLCV IVSCNLSYPR
DGWDESTAAY GYWFKGRTSP KTGAPVATNN QSREVEMSTR DRFQLTGDPG KGSCSLVIRD
AQREDEAWYF FRVERGSRVR HSFLSNAFFL KVTALTKKPD VYIPETLEPG QPVTVICVFN
WAFKKCPAPS FSWTGAALSP RRTRPSTSHF SVLSFTPSPQ DHDTDLTCHV DFSRKGVSAQ
RTVRLRVAYA PKDLIISISH DNTSALELQG NVIYLEVQKG QFLRLLCAAD SQPPATLSWV
LQDRVLSSSH PWGPRTLGLE LRGVRAGDSG RYTCRAENRL GSQQQALDLS VQYPPENLRV
MVSQGNRTVL ENLGNGTSLP VLEGQSLRLV CVTHSSPPAR LSWTRWGQTV GPSQPSDPGV
LELPPIQMEH EGEFTCHAQH PLGSQHVSLS LSVHWKLEHG GGLGLGAALG AGVAALLAFC
SCLVVFRVKI CRKEARKRAA AEQDVPSTLG PISQGHQHEC SAGSSQDHPP PGAATYTPGK
GEEQELHYAS LSFQGLRLWE PADQEAPSTT EYSEIKIHTG QPLRGPGFGL QLEREMSGMV
PK*
speed 1.02 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