Yum, tasty mutations...

MutationTaster - study a chromosomal position

 MTQE documentation
NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 3 transcript(s)...
Querying Taster for transcript #1: ENST00000519560
Querying Taster for transcript #2: ENST00000332966
Querying Taster for transcript #3: ENST00000404867
MT speed 0 s - this script 3.738912 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
SLIT3polymorphism_automatic0.000208641785162simple_aaeaffectedG618Ssingle base exchangers10036727show file
SLIT3polymorphism_automatic0.000208641785162simple_aaeaffectedG618Ssingle base exchangers10036727show file
SLIT3polymorphism_automatic0.000208641785162simple_aaeaffectedG618Ssingle base exchangers10036727show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999791358214838 (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) chr5:168180081C>TN/A show variant in all transcripts   IGV
HGNC symbol SLIT3
Ensembl transcript ID ENST00000519560
Genbank transcript ID NM_003062
UniProt peptide O75094
alteration type single base exchange
alteration region CDS
DNA changes c.1852G>A
cDNA.2272G>A
g.548053G>A
AA changes G618S Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 618
frameshift no
known variant Reference ID: rs10036727
databasehomozygous (T/T)heterozygousallele carriers
1000G85711452002
ExAC17632-249715135
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.4361
3.421
(flanking)3.0451
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased548053wt: 0.74 / mu: 0.98wt: TGATCGGCTGTGTGA
mu: TGATCAGCTGTGTGA		 ATCG|gctg
Donor increased548057wt: 0.67 / mu: 0.84wt: CGGCTGTGTGAGTAA
mu: CAGCTGTGTGAGTAA		 GCTG|tgtg
distance from splice site 23
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      618LKTLMLRSNLIGCVSNDTFAGLSS
mutated  not conserved    618LKTLMLRSNLISCVSNDTFAGLS
Ptroglodytes  not conserved  ENSPTRG00000017510  618LKTLMLRSNLISCVSNDTFAGLS
Mmulatta  not conserved  ENSMMUG00000017087  432------------CVSNDTFAGLS
Fcatus  not conserved  ENSFCAG00000010913  570LKTLMLRSNLINCVSNDTFAGLS
Mmusculus  not conserved  ENSMUSG00000056427  618LKTLMLRSNLISCVSNDTFAGLS
Ggallus  not conserved  ENSGALG00000001916  432LKTLMLRSNSISCINNDTFAGLS
Trubripes  not conserved  ENSTRUG00000014930  499LKTLMLRSNQISCIDNSTFTGLS
Drerio  not conserved  ENSDARG00000034268  610LKTLMLRSNQISCVDNATFTGLS
Dmelanogaster  not conserved  FBgn0003425  656LKTLNLYDNQISCV---------
Celegans  not conserved  F40E10.4  598LEILDLSGNNIQCFS-
Xtropicalis  not conserved  ENSXETG00000013676  480LKTLMLRSNLMSCINNDTFTGLS
protein features
start (aa)end (aa)featuredetails 
606627REPEATLRR 15.lost
622622CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
630651REPEATLRR 16.might get lost (downstream of altered splice site)
663713DOMAINLRRCT 3.might get lost (downstream of altered splice site)
667667DISULFIDBy similarity.might get lost (downstream of altered splice site)
669669DISULFIDBy similarity.might get lost (downstream of altered splice site)
690690DISULFIDBy similarity.might get lost (downstream of altered splice site)
711711DISULFIDBy similarity.might get lost (downstream of altered splice site)
716752DOMAINLRRNT 4.might get lost (downstream of altered splice site)
753775REPEATLRR 17.might get lost (downstream of altered splice site)
776797REPEATLRR 18.might get lost (downstream of altered splice site)
784784CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
792792CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
797797CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
800821REPEATLRR 19.might get lost (downstream of altered splice site)
824845REPEATLRR 20.might get lost (downstream of altered splice site)
857907DOMAINLRRCT 4.might get lost (downstream of altered splice site)
918953DOMAINEGF-like 1.might get lost (downstream of altered splice site)
920920DISULFIDBy similarity.might get lost (downstream of altered splice site)
925925DISULFIDBy similarity.might get lost (downstream of altered splice site)
928928CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
931931DISULFIDBy similarity.might get lost (downstream of altered splice site)
941941DISULFIDBy similarity.might get lost (downstream of altered splice site)
943943DISULFIDBy similarity.might get lost (downstream of altered splice site)
952952DISULFIDBy similarity.might get lost (downstream of altered splice site)
955994DOMAINEGF-like 2.might get lost (downstream of altered splice site)
959959DISULFIDBy similarity.might get lost (downstream of altered splice site)
964964DISULFIDBy similarity.might get lost (downstream of altered splice site)
970970DISULFIDBy similarity.might get lost (downstream of altered splice site)
982982DISULFIDBy similarity.might get lost (downstream of altered splice site)
984984DISULFIDBy similarity.might get lost (downstream of altered splice site)
993993DISULFIDBy similarity.might get lost (downstream of altered splice site)
9961032DOMAINEGF-like 3.might get lost (downstream of altered splice site)
10001000DISULFIDBy similarity.might get lost (downstream of altered splice site)
10051005DISULFIDBy similarity.might get lost (downstream of altered splice site)
10081008CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
10111011DISULFIDBy similarity.might get lost (downstream of altered splice site)
10201020DISULFIDBy similarity.might get lost (downstream of altered splice site)
10221022DISULFIDBy similarity.might get lost (downstream of altered splice site)
10251025CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
10311031DISULFIDBy similarity.might get lost (downstream of altered splice site)
10341072DOMAINEGF-like 4.might get lost (downstream of altered splice site)
10381038DISULFIDBy similarity.might get lost (downstream of altered splice site)
10451045DISULFIDBy similarity.might get lost (downstream of altered splice site)
10511051DISULFIDBy similarity.might get lost (downstream of altered splice site)
10601060DISULFIDBy similarity.might get lost (downstream of altered splice site)
10621062DISULFIDBy similarity.might get lost (downstream of altered splice site)
10711071DISULFIDBy similarity.might get lost (downstream of altered splice site)
10741110DOMAINEGF-like 5.might get lost (downstream of altered splice site)
10781078DISULFIDBy similarity.might get lost (downstream of altered splice site)
10831083DISULFIDBy similarity.might get lost (downstream of altered splice site)
10891089DISULFIDBy similarity.might get lost (downstream of altered splice site)
10981098DISULFIDBy similarity.might get lost (downstream of altered splice site)
11001100DISULFIDBy similarity.might get lost (downstream of altered splice site)
11091109DISULFIDBy similarity.might get lost (downstream of altered splice site)
11191155DOMAINEGF-like 6.might get lost (downstream of altered splice site)
11231123DISULFIDBy similarity.might get lost (downstream of altered splice site)
11281128DISULFIDBy similarity.might get lost (downstream of altered splice site)
11341134DISULFIDBy similarity.might get lost (downstream of altered splice site)
11431143DISULFIDBy similarity.might get lost (downstream of altered splice site)
11451145DISULFIDBy similarity.might get lost (downstream of altered splice site)
11541154DISULFIDBy similarity.might get lost (downstream of altered splice site)
11581332DOMAINLaminin G-like.might get lost (downstream of altered splice site)
11811181CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
12471247CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
13051305DISULFIDBy similarity.might get lost (downstream of altered splice site)
13321332DISULFIDBy similarity.might get lost (downstream of altered splice site)
13401365DOMAINEGF-like 7.might get lost (downstream of altered splice site)
13551355DISULFIDBy similarity.might get lost (downstream of altered splice site)
13641364DISULFIDBy similarity.might get lost (downstream of altered splice site)
13681403DOMAINEGF-like 8.might get lost (downstream of altered splice site)
13721372DISULFIDBy similarity.might get lost (downstream of altered splice site)
13771377DISULFIDBy similarity.might get lost (downstream of altered splice site)
13821382DISULFIDBy similarity.might get lost (downstream of altered splice site)
13911391DISULFIDBy similarity.might get lost (downstream of altered splice site)
13931393DISULFIDBy similarity.might get lost (downstream of altered splice site)
14021402DISULFIDBy similarity.might get lost (downstream of altered splice site)
14061406CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
14081444DOMAINEGF-like 9.might get lost (downstream of altered splice site)
14121412DISULFIDBy similarity.might get lost (downstream of altered splice site)
14171417DISULFIDBy similarity.might get lost (downstream of altered splice site)
14221422DISULFIDBy similarity.might get lost (downstream of altered splice site)
14321432DISULFIDBy similarity.might get lost (downstream of altered splice site)
14341434DISULFIDBy similarity.might get lost (downstream of altered splice site)
14431443DISULFIDBy similarity.might get lost (downstream of altered splice site)
14491449DISULFIDBy similarity.might get lost (downstream of altered splice site)
14491523DOMAINCTCK.might get lost (downstream of altered splice site)
14671467DISULFIDBy similarity.might get lost (downstream of altered splice site)
14781478DISULFIDBy similarity.might get lost (downstream of altered splice site)
14821482DISULFIDBy similarity.might get lost (downstream of altered splice site)
14871487DISULFIDBy similarity.might get lost (downstream of altered splice site)
15011501DISULFIDBy similarity.might get lost (downstream of altered splice site)
15171517DISULFIDBy similarity.might get lost (downstream of altered splice site)
15191519DISULFIDBy similarity.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4572 / 4572
position (AA) of stopcodon in wt / mu AA sequence 1524 / 1524
position of stopcodon in wt / mu cDNA 4992 / 4992
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 421 / 421
chromosome 5
strand -1
last intron/exon boundary 4757
theoretical NMD boundary in CDS 4286
length of CDS 4572
coding sequence (CDS) position 1852
cDNA position
(for ins/del: last normal base / first normal base)		 2272
gDNA position
(for ins/del: last normal base / first normal base)		 548053
chromosomal position
(for ins/del: last normal base / first normal base)		 168180081
original gDNA sequence snippet TGCTGAGGAGTAACTTGATCGGCTGTGTGAGTAATGACACC
altered gDNA sequence snippet TGCTGAGGAGTAACTTGATCAGCTGTGTGAGTAATGACACC
original cDNA sequence snippet TGCTGAGGAGTAACTTGATCGGCTGTGTGAGTAATGACACC
altered cDNA sequence snippet TGCTGAGGAGTAACTTGATCAGCTGTGTGAGTAATGACACC
wildtype AA sequence MAPGWAGVGA AVRARLALAL ALASVLSGPP AVACPTKCTC SAASVDCHGL GLRAVPRGIP
RNAERLDLDR NNITRITKMD FAGLKNLRVL HLEDNQVSVI ERGAFQDLKQ LERLRLNKNK
LQVLPELLFQ STPKLTRLDL SENQIQGIPR KAFRGITDVK NLQLDNNHIS CIEDGAFRAL
RDLEILTLNN NNISRILVTS FNHMPKIRTL RLHSNHLYCD CHLAWLSDWL RQRRTVGQFT
LCMAPVHLRG FNVADVQKKE YVCPAPHSEP PSCNANSISC PSPCTCSNNI VDCRGKGLME
IPANLPEGIV EIRLEQNSIK AIPAGAFTQY KKLKRIDISK NQISDIAPDA FQGLKSLTSL
VLYGNKITEI VKGLFDGLVS LQLLLLNANK INCLRVNTFQ DLQNLNLLSL YDNKLQTISK
GLFAPLQSIQ TLHLAQNPFV CDCHLKWLAD YLQDNPIETS GARCSSPRRL ANKRISQIKS
KKFRCSGSED YRSRFSSECF MDLVCPEKCR CEGTIVDCSN QKLVRIPSHL PEYVTDLRLN
DNEVSVLEAT GIFKKLPNLR KINLSNNKIK EVREGAFDGA ASVQELMLTG NQLETVHGRV
FRGLSGLKTL MLRSNLIGCV SNDTFAGLSS VRLLSLYDNR ITTITPGAFT TLVSLSTINL
LSNPFNCNCH LAWLGKWLRK RRIVSGNPRC QKPFFLKEIP IQDVAIQDFT CDGNEESSCQ
LSPRCPEQCT CMETVVRCSN KGLRALPRGM PKDVTELYLE GNHLTAVPRE LSALRHLTLI
DLSNNSISML TNYTFSNMSH LSTLILSYNR LRCIPVHAFN GLRSLRVLTL HGNDISSVPE
GSFNDLTSLS HLALGTNPLH CDCSLRWLSE WVKAGYKEPG IARCSSPEPM ADRLLLTTPT
HRFQCKGPVD INIVAKCNAC LSSPCKNNGT CTQDPVELYR CACPYSYKGK DCTVPINTCI
QNPCQHGGTC HLSDSHKDGF SCSCPLGFEG QRCEINPDDC EDNDCENNAT CVDGINNYVC
ICPPNYTGEL CDEVIDHCVP ELNLCQHEAK CIPLDKGFSC ECVPGYSGKL CETDNDDCVA
HKCRHGAQCV DTINGYTCTC PQGFSGPFCE HPPPMVLLQT SPCDQYECQN GAQCIVVQQE
PTCRCPPGFA GPRCEKLITV NFVGKDSYVE LASAKVRPQA NISLQVATDK DNGILLYKGD
NDPLALELYQ GHVRLVYDSL SSPPTTVYSV ETVNDGQFHS VELVTLNQTL NLVVDKGTPK
SLGKLQKQPA VGINSPLYLG GIPTSTGLSA LRQGTDRPLG GFHGCIHEVR INNELQDFKA
LPPQSLGVSP GCKSCTVCKH GLCRSVEKDS VVCECRPGWT GPLCDQEARD PCLGHRCHHG
KCVATGTSYM CKCAEGYGGD LCDNKNDSAN ACSAFKCHHG QCHISDQGEP YCLCQPGFSG
EHCQQENPCL GQVVREVIRR QKGYASCATA SKVPIMECRG GCGPQCCQPT RSKRRKYVFQ
CTDGSSFVEE VERHLECGCL ACS*
mutated AA sequence MAPGWAGVGA AVRARLALAL ALASVLSGPP AVACPTKCTC SAASVDCHGL GLRAVPRGIP
RNAERLDLDR NNITRITKMD FAGLKNLRVL HLEDNQVSVI ERGAFQDLKQ LERLRLNKNK
LQVLPELLFQ STPKLTRLDL SENQIQGIPR KAFRGITDVK NLQLDNNHIS CIEDGAFRAL
RDLEILTLNN NNISRILVTS FNHMPKIRTL RLHSNHLYCD CHLAWLSDWL RQRRTVGQFT
LCMAPVHLRG FNVADVQKKE YVCPAPHSEP PSCNANSISC PSPCTCSNNI VDCRGKGLME
IPANLPEGIV EIRLEQNSIK AIPAGAFTQY KKLKRIDISK NQISDIAPDA FQGLKSLTSL
VLYGNKITEI VKGLFDGLVS LQLLLLNANK INCLRVNTFQ DLQNLNLLSL YDNKLQTISK
GLFAPLQSIQ TLHLAQNPFV CDCHLKWLAD YLQDNPIETS GARCSSPRRL ANKRISQIKS
KKFRCSGSED YRSRFSSECF MDLVCPEKCR CEGTIVDCSN QKLVRIPSHL PEYVTDLRLN
DNEVSVLEAT GIFKKLPNLR KINLSNNKIK EVREGAFDGA ASVQELMLTG NQLETVHGRV
FRGLSGLKTL MLRSNLISCV SNDTFAGLSS VRLLSLYDNR ITTITPGAFT TLVSLSTINL
LSNPFNCNCH LAWLGKWLRK RRIVSGNPRC QKPFFLKEIP IQDVAIQDFT CDGNEESSCQ
LSPRCPEQCT CMETVVRCSN KGLRALPRGM PKDVTELYLE GNHLTAVPRE LSALRHLTLI
DLSNNSISML TNYTFSNMSH LSTLILSYNR LRCIPVHAFN GLRSLRVLTL HGNDISSVPE
GSFNDLTSLS HLALGTNPLH CDCSLRWLSE WVKAGYKEPG IARCSSPEPM ADRLLLTTPT
HRFQCKGPVD INIVAKCNAC LSSPCKNNGT CTQDPVELYR CACPYSYKGK DCTVPINTCI
QNPCQHGGTC HLSDSHKDGF SCSCPLGFEG QRCEINPDDC EDNDCENNAT CVDGINNYVC
ICPPNYTGEL CDEVIDHCVP ELNLCQHEAK CIPLDKGFSC ECVPGYSGKL CETDNDDCVA
HKCRHGAQCV DTINGYTCTC PQGFSGPFCE HPPPMVLLQT SPCDQYECQN GAQCIVVQQE
PTCRCPPGFA GPRCEKLITV NFVGKDSYVE LASAKVRPQA NISLQVATDK DNGILLYKGD
NDPLALELYQ GHVRLVYDSL SSPPTTVYSV ETVNDGQFHS VELVTLNQTL NLVVDKGTPK
SLGKLQKQPA VGINSPLYLG GIPTSTGLSA LRQGTDRPLG GFHGCIHEVR INNELQDFKA
LPPQSLGVSP GCKSCTVCKH GLCRSVEKDS VVCECRPGWT GPLCDQEARD PCLGHRCHHG
KCVATGTSYM CKCAEGYGGD LCDNKNDSAN ACSAFKCHHG QCHISDQGEP YCLCQPGFSG
EHCQQENPCL GQVVREVIRR QKGYASCATA SKVPIMECRG GCGPQCCQPT RSKRRKYVFQ
CTDGSSFVEE VERHLECGCL ACS*
speed 0.78 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
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999791358214838 (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) chr5:168180081C>TN/A show variant in all transcripts   IGV
HGNC symbol SLIT3
Ensembl transcript ID ENST00000332966
Genbank transcript ID N/A
UniProt peptide O75094
alteration type single base exchange
alteration region CDS
DNA changes c.1852G>A
cDNA.1925G>A
g.548053G>A
AA changes G618S Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 618
frameshift no
known variant Reference ID: rs10036727
databasehomozygous (T/T)heterozygousallele carriers
1000G85711452002
ExAC17632-249715135
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.4361
3.421
(flanking)3.0451
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased548053wt: 0.74 / mu: 0.98wt: TGATCGGCTGTGTGA
mu: TGATCAGCTGTGTGA		 ATCG|gctg
Donor increased548057wt: 0.67 / mu: 0.84wt: CGGCTGTGTGAGTAA
mu: CAGCTGTGTGAGTAA		 GCTG|tgtg
distance from splice site 23
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      618LKTLMLRSNLIGCVSNDTFAGLSS
mutated  not conserved    618LKTLMLRSNLISCVSNDTFAGLS
Ptroglodytes  not conserved  ENSPTRG00000017510  618LKTLMLRSNLISCVSNDTFAGLS
Mmulatta  not conserved  ENSMMUG00000017087  432------------CVSNDTFAGLS
Fcatus  not conserved  ENSFCAG00000010913  570LKTLMLRSNLINCVSNDTFAGLS
Mmusculus  not conserved  ENSMUSG00000056427  618LKTLMLRSNLISCVSNDTFAGLS
Ggallus  not conserved  ENSGALG00000001916  432LKTLMLRSNSISCINNDTFAGLS
Trubripes  not conserved  ENSTRUG00000014930  499LKTLMLRSNQISCIDNSTFTGLS
Drerio  not conserved  ENSDARG00000034268  610LKTLMLRSNQISCVDNATFTGLS
Dmelanogaster  not conserved  FBgn0003425  656LKTLNLYDNQISCV---------
Celegans  not conserved  F40E10.4  598LEILDLSGNNIQCFS-
Xtropicalis  not conserved  ENSXETG00000013676  480LKTLMLRSNLMSCINNDTFTGLS
protein features
start (aa)end (aa)featuredetails 
606627REPEATLRR 15.lost
622622CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
630651REPEATLRR 16.might get lost (downstream of altered splice site)
663713DOMAINLRRCT 3.might get lost (downstream of altered splice site)
667667DISULFIDBy similarity.might get lost (downstream of altered splice site)
669669DISULFIDBy similarity.might get lost (downstream of altered splice site)
690690DISULFIDBy similarity.might get lost (downstream of altered splice site)
711711DISULFIDBy similarity.might get lost (downstream of altered splice site)
716752DOMAINLRRNT 4.might get lost (downstream of altered splice site)
753775REPEATLRR 17.might get lost (downstream of altered splice site)
776797REPEATLRR 18.might get lost (downstream of altered splice site)
784784CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
792792CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
797797CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
800821REPEATLRR 19.might get lost (downstream of altered splice site)
824845REPEATLRR 20.might get lost (downstream of altered splice site)
857907DOMAINLRRCT 4.might get lost (downstream of altered splice site)
918953DOMAINEGF-like 1.might get lost (downstream of altered splice site)
920920DISULFIDBy similarity.might get lost (downstream of altered splice site)
925925DISULFIDBy similarity.might get lost (downstream of altered splice site)
928928CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
931931DISULFIDBy similarity.might get lost (downstream of altered splice site)
941941DISULFIDBy similarity.might get lost (downstream of altered splice site)
943943DISULFIDBy similarity.might get lost (downstream of altered splice site)
952952DISULFIDBy similarity.might get lost (downstream of altered splice site)
955994DOMAINEGF-like 2.might get lost (downstream of altered splice site)
959959DISULFIDBy similarity.might get lost (downstream of altered splice site)
964964DISULFIDBy similarity.might get lost (downstream of altered splice site)
970970DISULFIDBy similarity.might get lost (downstream of altered splice site)
982982DISULFIDBy similarity.might get lost (downstream of altered splice site)
984984DISULFIDBy similarity.might get lost (downstream of altered splice site)
993993DISULFIDBy similarity.might get lost (downstream of altered splice site)
9961032DOMAINEGF-like 3.might get lost (downstream of altered splice site)
10001000DISULFIDBy similarity.might get lost (downstream of altered splice site)
10051005DISULFIDBy similarity.might get lost (downstream of altered splice site)
10081008CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
10111011DISULFIDBy similarity.might get lost (downstream of altered splice site)
10201020DISULFIDBy similarity.might get lost (downstream of altered splice site)
10221022DISULFIDBy similarity.might get lost (downstream of altered splice site)
10251025CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
10311031DISULFIDBy similarity.might get lost (downstream of altered splice site)
10341072DOMAINEGF-like 4.might get lost (downstream of altered splice site)
10381038DISULFIDBy similarity.might get lost (downstream of altered splice site)
10451045DISULFIDBy similarity.might get lost (downstream of altered splice site)
10511051DISULFIDBy similarity.might get lost (downstream of altered splice site)
10601060DISULFIDBy similarity.might get lost (downstream of altered splice site)
10621062DISULFIDBy similarity.might get lost (downstream of altered splice site)
10711071DISULFIDBy similarity.might get lost (downstream of altered splice site)
10741110DOMAINEGF-like 5.might get lost (downstream of altered splice site)
10781078DISULFIDBy similarity.might get lost (downstream of altered splice site)
10831083DISULFIDBy similarity.might get lost (downstream of altered splice site)
10891089DISULFIDBy similarity.might get lost (downstream of altered splice site)
10981098DISULFIDBy similarity.might get lost (downstream of altered splice site)
11001100DISULFIDBy similarity.might get lost (downstream of altered splice site)
11091109DISULFIDBy similarity.might get lost (downstream of altered splice site)
11191155DOMAINEGF-like 6.might get lost (downstream of altered splice site)
11231123DISULFIDBy similarity.might get lost (downstream of altered splice site)
11281128DISULFIDBy similarity.might get lost (downstream of altered splice site)
11341134DISULFIDBy similarity.might get lost (downstream of altered splice site)
11431143DISULFIDBy similarity.might get lost (downstream of altered splice site)
11451145DISULFIDBy similarity.might get lost (downstream of altered splice site)
11541154DISULFIDBy similarity.might get lost (downstream of altered splice site)
11581332DOMAINLaminin G-like.might get lost (downstream of altered splice site)
11811181CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
12471247CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
13051305DISULFIDBy similarity.might get lost (downstream of altered splice site)
13321332DISULFIDBy similarity.might get lost (downstream of altered splice site)
13401365DOMAINEGF-like 7.might get lost (downstream of altered splice site)
13551355DISULFIDBy similarity.might get lost (downstream of altered splice site)
13641364DISULFIDBy similarity.might get lost (downstream of altered splice site)
13681403DOMAINEGF-like 8.might get lost (downstream of altered splice site)
13721372DISULFIDBy similarity.might get lost (downstream of altered splice site)
13771377DISULFIDBy similarity.might get lost (downstream of altered splice site)
13821382DISULFIDBy similarity.might get lost (downstream of altered splice site)
13911391DISULFIDBy similarity.might get lost (downstream of altered splice site)
13931393DISULFIDBy similarity.might get lost (downstream of altered splice site)
14021402DISULFIDBy similarity.might get lost (downstream of altered splice site)
14061406CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
14081444DOMAINEGF-like 9.might get lost (downstream of altered splice site)
14121412DISULFIDBy similarity.might get lost (downstream of altered splice site)
14171417DISULFIDBy similarity.might get lost (downstream of altered splice site)
14221422DISULFIDBy similarity.might get lost (downstream of altered splice site)
14321432DISULFIDBy similarity.might get lost (downstream of altered splice site)
14341434DISULFIDBy similarity.might get lost (downstream of altered splice site)
14431443DISULFIDBy similarity.might get lost (downstream of altered splice site)
14491449DISULFIDBy similarity.might get lost (downstream of altered splice site)
14491523DOMAINCTCK.might get lost (downstream of altered splice site)
14671467DISULFIDBy similarity.might get lost (downstream of altered splice site)
14781478DISULFIDBy similarity.might get lost (downstream of altered splice site)
14821482DISULFIDBy similarity.might get lost (downstream of altered splice site)
14871487DISULFIDBy similarity.might get lost (downstream of altered splice site)
15011501DISULFIDBy similarity.might get lost (downstream of altered splice site)
15171517DISULFIDBy similarity.might get lost (downstream of altered splice site)
15191519DISULFIDBy similarity.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4593 / 4593
position (AA) of stopcodon in wt / mu AA sequence 1531 / 1531
position of stopcodon in wt / mu cDNA 4666 / 4666
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 74 / 74
chromosome 5
strand -1
last intron/exon boundary 4431
theoretical NMD boundary in CDS 4307
length of CDS 4593
coding sequence (CDS) position 1852
cDNA position
(for ins/del: last normal base / first normal base)		 1925
gDNA position
(for ins/del: last normal base / first normal base)		 548053
chromosomal position
(for ins/del: last normal base / first normal base)		 168180081
original gDNA sequence snippet TGCTGAGGAGTAACTTGATCGGCTGTGTGAGTAATGACACC
altered gDNA sequence snippet TGCTGAGGAGTAACTTGATCAGCTGTGTGAGTAATGACACC
original cDNA sequence snippet TGCTGAGGAGTAACTTGATCGGCTGTGTGAGTAATGACACC
altered cDNA sequence snippet TGCTGAGGAGTAACTTGATCAGCTGTGTGAGTAATGACACC
wildtype AA sequence MAPGWAGVGA AVRARLALAL ALASVLSGPP AVACPTKCTC SAASVDCHGL GLRAVPRGIP
RNAERLDLDR NNITRITKMD FAGLKNLRVL HLEDNQVSVI ERGAFQDLKQ LERLRLNKNK
LQVLPELLFQ STPKLTRLDL SENQIQGIPR KAFRGITDVK NLQLDNNHIS CIEDGAFRAL
RDLEILTLNN NNISRILVTS FNHMPKIRTL RLHSNHLYCD CHLAWLSDWL RQRRTVGQFT
LCMAPVHLRG FNVADVQKKE YVCPAPHSEP PSCNANSISC PSPCTCSNNI VDCRGKGLME
IPANLPEGIV EIRLEQNSIK AIPAGAFTQY KKLKRIDISK NQISDIAPDA FQGLKSLTSL
VLYGNKITEI VKGLFDGLVS LQLLLLNANK INCLRVNTFQ DLQNLNLLSL YDNKLQTISK
GLFAPLQSIQ TLHLAQNPFV CDCHLKWLAD YLQDNPIETS GARCSSPRRL ANKRISQIKS
KKFRCSGSED YRSRFSSECF MDLVCPEKCR CEGTIVDCSN QKLVRIPSHL PEYVTDLRLN
DNEVSVLEAT GIFKKLPNLR KINLSNNKIK EVREGAFDGA ASVQELMLTG NQLETVHGRV
FRGLSGLKTL MLRSNLIGCV SNDTFAGLSS VRLLSLYDNR ITTITPGAFT TLVSLSTINL
LSNPFNCNCH LAWLGKWLRK RRIVSGNPRC QKPFFLKEIP IQDVAIQDFT CDGNEESSCQ
LSPRCPEQCT CMETVVRCSN KGLRALPRGM PKDVTELYLE GNHLTAVPRE LSALRHLTLI
DLSNNSISML TNYTFSNMSH LSTLILSYNR LRCIPVHAFN GLRSLRVLTL HGNDISSVPE
GSFNDLTSLS HLALGTNPLH CDCSLRWLSE WVKAGYKEPG IARCSSPEPM ADRLLLTTPT
HRFQCKVLWF CCPGPVDINI VAKCNACLSS PCKNNGTCTQ DPVELYRCAC PYSYKGKDCT
VPINTCIQNP CQHGGTCHLS DSHKDGFSCS CPLGFEGQRC EINPDDCEDN DCENNATCVD
GINNYVCICP PNYTGELCDE VIDHCVPELN LCQHEAKCIP LDKGFSCECV PGYSGKLCET
DNDDCVAHKC RHGAQCVDTI NGYTCTCPQG FSGPFCEHPP PMVLLQTSPC DQYECQNGAQ
CIVVQQEPTC RCPPGFAGPR CEKLITVNFV GKDSYVELAS AKVRPQANIS LQVATDKDNG
ILLYKGDNDP LALELYQGHV RLVYDSLSSP PTTVYSVETV NDGQFHSVEL VTLNQTLNLV
VDKGTPKSLG KLQKQPAVGI NSPLYLGGIP TSTGLSALRQ GTDRPLGGFH GCIHEVRINN
ELQDFKALPP QSLGVSPGCK SCTVCKHGLC RSVEKDSVVC ECRPGWTGPL CDQEARDPCL
GHRCHHGKCV ATGTSYMCKC AEGYGGDLCD NKNDSANACS AFKCHHGQCH ISDQGEPYCL
CQPGFSGEHC QQENPCLGQV VREVIRRQKG YASCATASKV PIMECRGGCG PQCCQPTRSK
RRKYVFQCTD GSSFVEEVER HLECGCLACS *
mutated AA sequence MAPGWAGVGA AVRARLALAL ALASVLSGPP AVACPTKCTC SAASVDCHGL GLRAVPRGIP
RNAERLDLDR NNITRITKMD FAGLKNLRVL HLEDNQVSVI ERGAFQDLKQ LERLRLNKNK
LQVLPELLFQ STPKLTRLDL SENQIQGIPR KAFRGITDVK NLQLDNNHIS CIEDGAFRAL
RDLEILTLNN NNISRILVTS FNHMPKIRTL RLHSNHLYCD CHLAWLSDWL RQRRTVGQFT
LCMAPVHLRG FNVADVQKKE YVCPAPHSEP PSCNANSISC PSPCTCSNNI VDCRGKGLME
IPANLPEGIV EIRLEQNSIK AIPAGAFTQY KKLKRIDISK NQISDIAPDA FQGLKSLTSL
VLYGNKITEI VKGLFDGLVS LQLLLLNANK INCLRVNTFQ DLQNLNLLSL YDNKLQTISK
GLFAPLQSIQ TLHLAQNPFV CDCHLKWLAD YLQDNPIETS GARCSSPRRL ANKRISQIKS
KKFRCSGSED YRSRFSSECF MDLVCPEKCR CEGTIVDCSN QKLVRIPSHL PEYVTDLRLN
DNEVSVLEAT GIFKKLPNLR KINLSNNKIK EVREGAFDGA ASVQELMLTG NQLETVHGRV
FRGLSGLKTL MLRSNLISCV SNDTFAGLSS VRLLSLYDNR ITTITPGAFT TLVSLSTINL
LSNPFNCNCH LAWLGKWLRK RRIVSGNPRC QKPFFLKEIP IQDVAIQDFT CDGNEESSCQ
LSPRCPEQCT CMETVVRCSN KGLRALPRGM PKDVTELYLE GNHLTAVPRE LSALRHLTLI
DLSNNSISML TNYTFSNMSH LSTLILSYNR LRCIPVHAFN GLRSLRVLTL HGNDISSVPE
GSFNDLTSLS HLALGTNPLH CDCSLRWLSE WVKAGYKEPG IARCSSPEPM ADRLLLTTPT
HRFQCKVLWF CCPGPVDINI VAKCNACLSS PCKNNGTCTQ DPVELYRCAC PYSYKGKDCT
VPINTCIQNP CQHGGTCHLS DSHKDGFSCS CPLGFEGQRC EINPDDCEDN DCENNATCVD
GINNYVCICP PNYTGELCDE VIDHCVPELN LCQHEAKCIP LDKGFSCECV PGYSGKLCET
DNDDCVAHKC RHGAQCVDTI NGYTCTCPQG FSGPFCEHPP PMVLLQTSPC DQYECQNGAQ
CIVVQQEPTC RCPPGFAGPR CEKLITVNFV GKDSYVELAS AKVRPQANIS LQVATDKDNG
ILLYKGDNDP LALELYQGHV RLVYDSLSSP PTTVYSVETV NDGQFHSVEL VTLNQTLNLV
VDKGTPKSLG KLQKQPAVGI NSPLYLGGIP TSTGLSALRQ GTDRPLGGFH GCIHEVRINN
ELQDFKALPP QSLGVSPGCK SCTVCKHGLC RSVEKDSVVC ECRPGWTGPL CDQEARDPCL
GHRCHHGKCV ATGTSYMCKC AEGYGGDLCD NKNDSANACS AFKCHHGQCH ISDQGEPYCL
CQPGFSGEHC QQENPCLGQV VREVIRRQKG YASCATASKV PIMECRGGCG PQCCQPTRSK
RRKYVFQCTD GSSFVEEVER HLECGCLACS *
speed 0.85 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
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999791358214838 (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) chr5:168180081C>TN/A show variant in all transcripts   IGV
HGNC symbol SLIT3
Ensembl transcript ID ENST00000404867
Genbank transcript ID N/A
UniProt peptide O75094
alteration type single base exchange
alteration region CDS
DNA changes c.1852G>A
cDNA.1852G>A
g.548053G>A
AA changes G618S Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 618
frameshift no
known variant Reference ID: rs10036727
databasehomozygous (T/T)heterozygousallele carriers
1000G85711452002
ExAC17632-249715135
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.4361
3.421
(flanking)3.0451
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased548053wt: 0.74 / mu: 0.98wt: TGATCGGCTGTGTGA
mu: TGATCAGCTGTGTGA		 ATCG|gctg
Donor increased548057wt: 0.67 / mu: 0.84wt: CGGCTGTGTGAGTAA
mu: CAGCTGTGTGAGTAA		 GCTG|tgtg
distance from splice site 23
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      618LKTLMLRSNLIGCVSNDTFAGLSS
mutated  not conserved    618LKTLMLRSNLISCVSNDTFAGLS
Ptroglodytes  not conserved  ENSPTRG00000017510  618LKTLMLRSNLISCVSNDTFAGLS
Mmulatta  not conserved  ENSMMUG00000017087  432------------CVSNDTFAGLS
Fcatus  not conserved  ENSFCAG00000010913  570LKTLMLRSNLINCVSNDTFAGLS
Mmusculus  not conserved  ENSMUSG00000056427  618LKTLMLRSNLISCVSNDTFAGLS
Ggallus  not conserved  ENSGALG00000001916  432LKTLMLRSNSISCINNDTFAGLS
Trubripes  not conserved  ENSTRUG00000014930  499LKTLMLRSNQISCIDNSTFTGLS
Drerio  not conserved  ENSDARG00000034268  610LKTLMLRSNQISCVDNATFTGLS
Dmelanogaster  not conserved  FBgn0003425  656LKTLNLYDNQISCV---------
Celegans  not conserved  F40E10.4  598LEILDLSGNNIQCFS-
Xtropicalis  not conserved  ENSXETG00000013676  480LKTLMLRSNLMSCINNDTFTGLS
protein features
start (aa)end (aa)featuredetails 
606627REPEATLRR 15.lost
622622CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
630651REPEATLRR 16.might get lost (downstream of altered splice site)
663713DOMAINLRRCT 3.might get lost (downstream of altered splice site)
667667DISULFIDBy similarity.might get lost (downstream of altered splice site)
669669DISULFIDBy similarity.might get lost (downstream of altered splice site)
690690DISULFIDBy similarity.might get lost (downstream of altered splice site)
711711DISULFIDBy similarity.might get lost (downstream of altered splice site)
716752DOMAINLRRNT 4.might get lost (downstream of altered splice site)
753775REPEATLRR 17.might get lost (downstream of altered splice site)
776797REPEATLRR 18.might get lost (downstream of altered splice site)
784784CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
792792CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
797797CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
800821REPEATLRR 19.might get lost (downstream of altered splice site)
824845REPEATLRR 20.might get lost (downstream of altered splice site)
857907DOMAINLRRCT 4.might get lost (downstream of altered splice site)
918953DOMAINEGF-like 1.might get lost (downstream of altered splice site)
920920DISULFIDBy similarity.might get lost (downstream of altered splice site)
925925DISULFIDBy similarity.might get lost (downstream of altered splice site)
928928CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
931931DISULFIDBy similarity.might get lost (downstream of altered splice site)
941941DISULFIDBy similarity.might get lost (downstream of altered splice site)
943943DISULFIDBy similarity.might get lost (downstream of altered splice site)
952952DISULFIDBy similarity.might get lost (downstream of altered splice site)
955994DOMAINEGF-like 2.might get lost (downstream of altered splice site)
959959DISULFIDBy similarity.might get lost (downstream of altered splice site)
964964DISULFIDBy similarity.might get lost (downstream of altered splice site)
970970DISULFIDBy similarity.might get lost (downstream of altered splice site)
982982DISULFIDBy similarity.might get lost (downstream of altered splice site)
984984DISULFIDBy similarity.might get lost (downstream of altered splice site)
993993DISULFIDBy similarity.might get lost (downstream of altered splice site)
9961032DOMAINEGF-like 3.might get lost (downstream of altered splice site)
10001000DISULFIDBy similarity.might get lost (downstream of altered splice site)
10051005DISULFIDBy similarity.might get lost (downstream of altered splice site)
10081008CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
10111011DISULFIDBy similarity.might get lost (downstream of altered splice site)
10201020DISULFIDBy similarity.might get lost (downstream of altered splice site)
10221022DISULFIDBy similarity.might get lost (downstream of altered splice site)
10251025CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
10311031DISULFIDBy similarity.might get lost (downstream of altered splice site)
10341072DOMAINEGF-like 4.might get lost (downstream of altered splice site)
10381038DISULFIDBy similarity.might get lost (downstream of altered splice site)
10451045DISULFIDBy similarity.might get lost (downstream of altered splice site)
10511051DISULFIDBy similarity.might get lost (downstream of altered splice site)
10601060DISULFIDBy similarity.might get lost (downstream of altered splice site)
10621062DISULFIDBy similarity.might get lost (downstream of altered splice site)
10711071DISULFIDBy similarity.might get lost (downstream of altered splice site)
10741110DOMAINEGF-like 5.might get lost (downstream of altered splice site)
10781078DISULFIDBy similarity.might get lost (downstream of altered splice site)
10831083DISULFIDBy similarity.might get lost (downstream of altered splice site)
10891089DISULFIDBy similarity.might get lost (downstream of altered splice site)
10981098DISULFIDBy similarity.might get lost (downstream of altered splice site)
11001100DISULFIDBy similarity.might get lost (downstream of altered splice site)
11091109DISULFIDBy similarity.might get lost (downstream of altered splice site)
11191155DOMAINEGF-like 6.might get lost (downstream of altered splice site)
11231123DISULFIDBy similarity.might get lost (downstream of altered splice site)
11281128DISULFIDBy similarity.might get lost (downstream of altered splice site)
11341134DISULFIDBy similarity.might get lost (downstream of altered splice site)
11431143DISULFIDBy similarity.might get lost (downstream of altered splice site)
11451145DISULFIDBy similarity.might get lost (downstream of altered splice site)
11541154DISULFIDBy similarity.might get lost (downstream of altered splice site)
11581332DOMAINLaminin G-like.might get lost (downstream of altered splice site)
11811181CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
12471247CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
13051305DISULFIDBy similarity.might get lost (downstream of altered splice site)
13321332DISULFIDBy similarity.might get lost (downstream of altered splice site)
13401365DOMAINEGF-like 7.might get lost (downstream of altered splice site)
13551355DISULFIDBy similarity.might get lost (downstream of altered splice site)
13641364DISULFIDBy similarity.might get lost (downstream of altered splice site)
13681403DOMAINEGF-like 8.might get lost (downstream of altered splice site)
13721372DISULFIDBy similarity.might get lost (downstream of altered splice site)
13771377DISULFIDBy similarity.might get lost (downstream of altered splice site)
13821382DISULFIDBy similarity.might get lost (downstream of altered splice site)
13911391DISULFIDBy similarity.might get lost (downstream of altered splice site)
13931393DISULFIDBy similarity.might get lost (downstream of altered splice site)
14021402DISULFIDBy similarity.might get lost (downstream of altered splice site)
14061406CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
14081444DOMAINEGF-like 9.might get lost (downstream of altered splice site)
14121412DISULFIDBy similarity.might get lost (downstream of altered splice site)
14171417DISULFIDBy similarity.might get lost (downstream of altered splice site)
14221422DISULFIDBy similarity.might get lost (downstream of altered splice site)
14321432DISULFIDBy similarity.might get lost (downstream of altered splice site)
14341434DISULFIDBy similarity.might get lost (downstream of altered splice site)
14431443DISULFIDBy similarity.might get lost (downstream of altered splice site)
14491449DISULFIDBy similarity.might get lost (downstream of altered splice site)
14491523DOMAINCTCK.might get lost (downstream of altered splice site)
14671467DISULFIDBy similarity.might get lost (downstream of altered splice site)
14781478DISULFIDBy similarity.might get lost (downstream of altered splice site)
14821482DISULFIDBy similarity.might get lost (downstream of altered splice site)
14871487DISULFIDBy similarity.might get lost (downstream of altered splice site)
15011501DISULFIDBy similarity.might get lost (downstream of altered splice site)
15171517DISULFIDBy similarity.might get lost (downstream of altered splice site)
15191519DISULFIDBy similarity.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4419 / 4419
position (AA) of stopcodon in wt / mu AA sequence 1473 / 1473
position of stopcodon in wt / mu cDNA 4419 / 4419
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 1 / 1
chromosome 5
strand -1
last intron/exon boundary 4337
theoretical NMD boundary in CDS 4286
length of CDS 4419
coding sequence (CDS) position 1852
cDNA position
(for ins/del: last normal base / first normal base)		 1852
gDNA position
(for ins/del: last normal base / first normal base)		 548053
chromosomal position
(for ins/del: last normal base / first normal base)		 168180081
original gDNA sequence snippet TGCTGAGGAGTAACTTGATCGGCTGTGTGAGTAATGACACC
altered gDNA sequence snippet TGCTGAGGAGTAACTTGATCAGCTGTGTGAGTAATGACACC
original cDNA sequence snippet TGCTGAGGAGTAACTTGATCGGCTGTGTGAGTAATGACACC
altered cDNA sequence snippet TGCTGAGGAGTAACTTGATCAGCTGTGTGAGTAATGACACC
wildtype AA sequence MAPGWAGVGA AVRARLALAL ALASVLSGPP AVACPTKCTC SAASVDCHGL GLRAVPRGIP
RNAERLDLDR NNITRITKMD FAGLKNLRVL HLEDNQVSVI ERGAFQDLKQ LERLRLNKNK
LQVLPELLFQ STPKLTRLDL SENQIQGIPR KAFRGITDVK NLQLDNNHIS CIEDGAFRAL
RDLEILTLNN NNISRILVTS FNHMPKIRTL RLHSNHLYCD CHLAWLSDWL RQRRTVGQFT
LCMAPVHLRG FNVADVQKKE YVCPAPHSEP PSCNANSISC PSPCTCSNNI VDCRGKGLME
IPANLPEGIV EIRLEQNSIK AIPAGAFTQY KKLKRIDISK NQISDIAPDA FQGLKSLTSL
VLYGNKITEI VKGLFDGLVS LQLLLLNANK INCLRVNTFQ DLQNLNLLSL YDNKLQTISK
GLFAPLQSIQ TLHLAQNPFV CDCHLKWLAD YLQDNPIETS GARCSSPRRL ANKRISQIKS
KKFRCSGSED YRSRFSSECF MDLVCPEKCR CEGTIVDCSN QKLVRIPSHL PEYVTDLRLN
DNEVSVLEAT GIFKKLPNLR KINLSNNKIK EVREGAFDGA ASVQELMLTG NQLETVHGRV
FRGLSGLKTL MLRSNLIGCV SNDTFAGLSS VRLLSLYDNR ITTITPGAFT TLVSLSTINL
LSNPFNCNCH LAWLGKWLRK RRIVSGNPRC QKPFFLKEIP IQDVAIQDFT CDGNEESSCQ
LSPRCPEQCT CMETVVRCSN KGLRALPRGM PKDVTELYLE GNHLTAVPRE LSALRHLTLI
DLSNNSISML TNYTFSNMSH LSTLILSYNR LRCIPVHAFN GLRSLRVLTL HGNDISSVPE
GSFNDLTSLS HLALGTNPLH CDCSLRWLSE WVKAGYKEPG IARCSSPEPM ADRLLLTTPT
HRFQCKGPVD INIVAKCNAC LSSPCKNNGT CTQDPVELYR CACPYSYKGK DCTVPINTCI
QNPCQHGGTC HLSDSHKDGF SCSCPLGFEG QRCEINPDDC EDNDCENNAT CVDGINNYVC
ICPPNYTGEL CDEVIDHCVP ELNLCQHEAK CIPLDKGFSC ECVPGYSGKL CETDNDDCVA
HKCRHGAQCV DTINGYTCTC PQGFSGPFCE HPPPMVLLQT SPCDQYECQN GAQCIVVQQE
PTCRCPPGFA GPRCEKLITV NFVGKDSYVE LASAKVRPQA NISLQVATDK DNGILLYKGD
NDPLALELYQ GHVRLVYDSL SSPPTTVYSV ETVNDGQFHS VELVTLNQTL NLVVDKGTPK
SLGKLQKQPA VGINSPLYLG GIPTSTGLSA LRQGTDRPLG GFHGCIHEVR INNELQDFKA
LPPQSLGVSP GCKSCTVCKH GLCRSVEKDS VVCECRPGWT GPLCDQEARD PCLGHRCHHG
KCVATGTSYM CKCAEGYGGD LCDNKNDSAN ACSAFKCHHG QCHISDQGEP YCLCQPGFSG
EHCQQVFRAQ VFQSSLPGNC SWSCWPPRPP MP*
mutated AA sequence MAPGWAGVGA AVRARLALAL ALASVLSGPP AVACPTKCTC SAASVDCHGL GLRAVPRGIP
RNAERLDLDR NNITRITKMD FAGLKNLRVL HLEDNQVSVI ERGAFQDLKQ LERLRLNKNK
LQVLPELLFQ STPKLTRLDL SENQIQGIPR KAFRGITDVK NLQLDNNHIS CIEDGAFRAL
RDLEILTLNN NNISRILVTS FNHMPKIRTL RLHSNHLYCD CHLAWLSDWL RQRRTVGQFT
LCMAPVHLRG FNVADVQKKE YVCPAPHSEP PSCNANSISC PSPCTCSNNI VDCRGKGLME
IPANLPEGIV EIRLEQNSIK AIPAGAFTQY KKLKRIDISK NQISDIAPDA FQGLKSLTSL
VLYGNKITEI VKGLFDGLVS LQLLLLNANK INCLRVNTFQ DLQNLNLLSL YDNKLQTISK
GLFAPLQSIQ TLHLAQNPFV CDCHLKWLAD YLQDNPIETS GARCSSPRRL ANKRISQIKS
KKFRCSGSED YRSRFSSECF MDLVCPEKCR CEGTIVDCSN QKLVRIPSHL PEYVTDLRLN
DNEVSVLEAT GIFKKLPNLR KINLSNNKIK EVREGAFDGA ASVQELMLTG NQLETVHGRV
FRGLSGLKTL MLRSNLISCV SNDTFAGLSS VRLLSLYDNR ITTITPGAFT TLVSLSTINL
LSNPFNCNCH LAWLGKWLRK RRIVSGNPRC QKPFFLKEIP IQDVAIQDFT CDGNEESSCQ
LSPRCPEQCT CMETVVRCSN KGLRALPRGM PKDVTELYLE GNHLTAVPRE LSALRHLTLI
DLSNNSISML TNYTFSNMSH LSTLILSYNR LRCIPVHAFN GLRSLRVLTL HGNDISSVPE
GSFNDLTSLS HLALGTNPLH CDCSLRWLSE WVKAGYKEPG IARCSSPEPM ADRLLLTTPT
HRFQCKGPVD INIVAKCNAC LSSPCKNNGT CTQDPVELYR CACPYSYKGK DCTVPINTCI
QNPCQHGGTC HLSDSHKDGF SCSCPLGFEG QRCEINPDDC EDNDCENNAT CVDGINNYVC
ICPPNYTGEL CDEVIDHCVP ELNLCQHEAK CIPLDKGFSC ECVPGYSGKL CETDNDDCVA
HKCRHGAQCV DTINGYTCTC PQGFSGPFCE HPPPMVLLQT SPCDQYECQN GAQCIVVQQE
PTCRCPPGFA GPRCEKLITV NFVGKDSYVE LASAKVRPQA NISLQVATDK DNGILLYKGD
NDPLALELYQ GHVRLVYDSL SSPPTTVYSV ETVNDGQFHS VELVTLNQTL NLVVDKGTPK
SLGKLQKQPA VGINSPLYLG GIPTSTGLSA LRQGTDRPLG GFHGCIHEVR INNELQDFKA
LPPQSLGVSP GCKSCTVCKH GLCRSVEKDS VVCECRPGWT GPLCDQEARD PCLGHRCHHG
KCVATGTSYM CKCAEGYGGD LCDNKNDSAN ACSAFKCHHG QCHISDQGEP YCLCQPGFSG
EHCQQVFRAQ VFQSSLPGNC SWSCWPPRPP MP*
speed 0.81 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
back to results table

Problems