Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999998 (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
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:100226883T>AN/A show variant in all transcripts   IGV
HGNC symbol CNTN5
Ensembl transcript ID ENST00000528682
Genbank transcript ID N/A
UniProt peptide O94779
alteration type single base exchange
alteration region CDS
DNA changes c.3235T>A
cDNA.3386T>A
g.1335201T>A
AA changes S1079T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1079
frameshift no
known variant Reference ID: rs1216183
databasehomozygous (A/A)heterozygousallele carriers
1000G30510281333
ExAC33191701120330
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1740.156
-0.210.005
(flanking)0.1670.001
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 36
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1079GKITSAQSTLHSLSTSSSSVTLLL
mutated  all conserved    1079GKITSAQSTLHTLSTSSSSVTLL
Ptroglodytes  all conserved  ENSPTRG00000004201  1079GKITSAQSTLHTLSTSSSSVTLL
Mmulatta  all conserved  ENSMMUG00000016737  1063GKITSAQSTLHTLSTSSSSVTLL
Fcatus  all conserved  ENSFCAG00000013908  1062GKITSAQSTLHTLSPSSSSVTLL
Mmusculus  all identical  ENSMUSG00000039488  1078GKITSAQSTLHSLS-KWSSVTLL
Ggallus  not conserved  ENSGALG00000017197  966GKVTSAQSTLHMFSTSSSSVTLL
Trubripes  not conserved  ENSTRUG00000012207  1073VRAKSSQRSVHHLS
Drerio  all conserved  ENSDARG00000021584  1093VRAKNGQLSVQNSPPGLAWTALF
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000005492  1082GKITSAQTSTHCIS
protein features
start (aa)end (aa)featuredetails 
10731100PROPEPRemoved in mature form (Potential). /FTId=PRO_0000014718.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3303 / 3303
position (AA) of stopcodon in wt / mu AA sequence 1101 / 1101
position of stopcodon in wt / mu cDNA 3454 / 3454
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 152 / 152
chromosome 11
strand 1
last intron/exon boundary 3351
theoretical NMD boundary in CDS 3149
length of CDS 3303
coding sequence (CDS) position 3235
cDNA position
(for ins/del: last normal base / first normal base)		 3386
gDNA position
(for ins/del: last normal base / first normal base)		 1335201
chromosomal position
(for ins/del: last normal base / first normal base)		 100226883
original gDNA sequence snippet GTGCACAGTCGACCCTTCACTCTCTCTCCACATCTTCGTCA
altered gDNA sequence snippet GTGCACAGTCGACCCTTCACACTCTCTCCACATCTTCGTCA
original cDNA sequence snippet GTGCACAGTCGACCCTTCACTCTCTCTCCACATCTTCGTCA
altered cDNA sequence snippet GTGCACAGTCGACCCTTCACACTCTCTCCACATCTTCGTCA
wildtype AA sequence MASSWKLMLF LSVTMCLSEY SKSLPGLSTS YAALLRIKKS SSSSLFGSKT RPRYSSPSLG
TLSASSPSWL GAAQNYYSPI NLYHSSDAFK QDESVDYGPV FVQEPDDIIF PTDSDEKKVA
LNCEVRGNPV PSYRWLRNGT EIDLESDYRY SLIDGTFIIS NPSEAKDSGH YQCLATNTVG
SILSREATLQ FAYLGNFSGR TRSAVSVREG QGVVLMCSPP PHSPEIIYSW VFNEFPSFVA
EDSRRFISQE TGNLYISKVQ TSDVGSYICL VKNTVTNARV LSPPTPLTLR NDGVMGEYEP
KIEVHFPFTV TAAKGTTVKM ECFALGNPVP TITWMKVNGY IPSKARLRKS QAVLEIPNVQ
LDDAGIYECR AENSRGKNSF RGQLQVYTYP HWVEKLNDTQ LDSGSPLRWE CKATGKPRPT
YRWLKNGVPL SPQSRVEMVN GVLMIHNVNQ SDAGMYQCLA ENKYGAIYAS AELKILASAP
TFALNQLKKT IIVTKDQEVV IECKPQGSPK PTISWKKGDR AVRENKRIAI LPDGSLRILN
ASKSDEGKYV CRGENVFGSA EIIASLSVKE PTRIELTPKR TELTVGESIV LNCKAIHDAS
LDVTFYWTLK GQPIDFEEEG GHFESIRAQA SSADLMIRNI LLMHAGRYGC RVQTTADSVS
DEAELLVRGP PGPPGIVIVE EITESTATLS WSPAADNHSP ISSYNLQARS PFSLGWQTVK
TVPEIITGDM ESAMAVDLNP WVEYEFRVVA TNPIGTGDPS TPSRMIRTNE AVPKTAPTNV
SGRSGRRHEL VIAWEPVSEE FQNGEGFGYI VAFRPNGTRG WKEKMVTSSE ASKFIYRDES
VPPLTPFEVK VGVYNNKGDG PFSQIVVICS AEGEPSAAPT DVKATSVSVS EILVAWKHIK
ESLGRPQGFE VGYWKDMEQE DTAETVKTRG NESFVILTGL EGNTLYHFTV RAYNGAGYGP
PSSEVSATTK KSPPSQAPSN LRWEQQGSQV SLGWEPVIPL ANESEVVGYK VFYRQEGHSN
SQVIETQKLQ AVVPLPDAGV YIIEVRAYSE GGDGTASSQI RVPSYSGGKI TSAQSTLHSL
STSSSSVTLL LALMIPSTSW *
mutated AA sequence MASSWKLMLF LSVTMCLSEY SKSLPGLSTS YAALLRIKKS SSSSLFGSKT RPRYSSPSLG
TLSASSPSWL GAAQNYYSPI NLYHSSDAFK QDESVDYGPV FVQEPDDIIF PTDSDEKKVA
LNCEVRGNPV PSYRWLRNGT EIDLESDYRY SLIDGTFIIS NPSEAKDSGH YQCLATNTVG
SILSREATLQ FAYLGNFSGR TRSAVSVREG QGVVLMCSPP PHSPEIIYSW VFNEFPSFVA
EDSRRFISQE TGNLYISKVQ TSDVGSYICL VKNTVTNARV LSPPTPLTLR NDGVMGEYEP
KIEVHFPFTV TAAKGTTVKM ECFALGNPVP TITWMKVNGY IPSKARLRKS QAVLEIPNVQ
LDDAGIYECR AENSRGKNSF RGQLQVYTYP HWVEKLNDTQ LDSGSPLRWE CKATGKPRPT
YRWLKNGVPL SPQSRVEMVN GVLMIHNVNQ SDAGMYQCLA ENKYGAIYAS AELKILASAP
TFALNQLKKT IIVTKDQEVV IECKPQGSPK PTISWKKGDR AVRENKRIAI LPDGSLRILN
ASKSDEGKYV CRGENVFGSA EIIASLSVKE PTRIELTPKR TELTVGESIV LNCKAIHDAS
LDVTFYWTLK GQPIDFEEEG GHFESIRAQA SSADLMIRNI LLMHAGRYGC RVQTTADSVS
DEAELLVRGP PGPPGIVIVE EITESTATLS WSPAADNHSP ISSYNLQARS PFSLGWQTVK
TVPEIITGDM ESAMAVDLNP WVEYEFRVVA TNPIGTGDPS TPSRMIRTNE AVPKTAPTNV
SGRSGRRHEL VIAWEPVSEE FQNGEGFGYI VAFRPNGTRG WKEKMVTSSE ASKFIYRDES
VPPLTPFEVK VGVYNNKGDG PFSQIVVICS AEGEPSAAPT DVKATSVSVS EILVAWKHIK
ESLGRPQGFE VGYWKDMEQE DTAETVKTRG NESFVILTGL EGNTLYHFTV RAYNGAGYGP
PSSEVSATTK KSPPSQAPSN LRWEQQGSQV SLGWEPVIPL ANESEVVGYK VFYRQEGHSN
SQVIETQKLQ AVVPLPDAGV YIIEVRAYSE GGDGTASSQI RVPSYSGGKI TSAQSTLHTL
STSSSSVTLL LALMIPSTSW *
speed 0.82 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