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 8 transcript(s)...
Querying Taster for transcript #1: ENST00000381129
Querying Taster for transcript #2: ENST00000250087
Querying Taster for transcript #3: ENST00000574506
Querying Taster for transcript #4: ENST00000575265
Querying Taster for transcript #5: ENST00000570466
Querying Taster for transcript #6: ENST00000576776
Querying Taster for transcript #7: ENST00000576307
Querying Taster for transcript #8: ENST00000571740
MT speed 0 s - this script 7.188152 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
AIPL1disease_causing_automatic0.999999999992035simple_aaeaffected0C176Rsingle base exchangers62637012show file
AIPL1disease_causing_automatic0.999999999992035simple_aaeaffected0C227Rsingle base exchangers62637012show file
AIPL1disease_causing_automatic0.999999999992035simple_aaeaffected0C217Rsingle base exchangers62637012show file
AIPL1disease_causing_automatic0.999999999994103simple_aaeaffected0C239Rsingle base exchangers62637012show file
AIPL1disease_causing_automatic0.999999999994103simple_aaeaffected0C239Rsingle base exchangers62637012show file
AIPL1disease_causing_automatic0.999999999994103simple_aaeaffected0C179Rsingle base exchangers62637012show file
AIPL1disease_causing_automatic0.999999999994103simple_aaeaffected0C231Rsingle base exchangers62637012show file
AIPL1disease_causing_automatic0.999999999995696simple_aaeaffected0C215Rsingle base exchangers62637012show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999992035 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM000002)
  • known disease mutation: rs5567 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:6330004A>GN/A show variant in all transcripts   IGV
HGNC symbol AIPL1
Ensembl transcript ID ENST00000250087
Genbank transcript ID NM_001033054
UniProt peptide Q9NZN9
alteration type single base exchange
alteration region CDS
DNA changes c.526T>C
cDNA.621T>C
g.8516T>C
AA changes C176R Score: 180 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 176
frameshift no
known variant Reference ID: rs62637012
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation: rs5567 (pathogenic for Leber congenital amaurosis 4|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM000002)

known disease mutation at this position, please check HGMD for details (HGMD ID CM000002)
known disease mutation at this position, please check HGMD for details (HGMD ID CM000002)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.361
2.6321
(flanking)0.3931
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased8508wt: 0.21 / mu: 0.33wt: CAATACTCTGATCCTCAACTACTGCCAGTGCCTGCTGAAGA
mu: CAATACTCTGATCCTCAACTACTGCCAGCGCCTGCTGAAGA		 acta|CTGC
distance from splice site 70
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      176MINTLILNYCQCLLKKEEYYEVLE
mutated  not conserved    176MINTLILNYCQRLLKK
Ptroglodytes  all identical  ENSPTRG00000008640  239MINTLILNYCQCLLKKEEYYEVL
Mmulatta  all identical  ENSMMUG00000017759  239MINTLTLNYCQCLLKKEEYYEVL
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000040554  239MINTLILNYCQCLLKKEEYYEVL
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000016169  236MANTLTLNYCQCLLRME
Drerio  all identical  ENSDARG00000075067  239MANTLTLNYCQCLLRMEEYYEVI
Dmelanogaster  all identical  FBgn0030345  232IKTPLLLNYAQCRLIAGDFYAVI
Celegans  all identical  C56C10.10  252KNIPLYANMSQCYLNIGDLHEAE
Xtropicalis  all identical  ENSXETG00000006821  239MINTLVLNYCQCLLRMEEYYEVI
protein features
start (aa)end (aa)featuredetails 
178211REPEATTPR 1.might get lost (downstream of altered splice site)
197197MUTAGENA->P: No significant effect on interaction with NUB1.might get lost (downstream of altered splice site)
206206MUTAGENI->N: No significant effect on interaction with NUB1.might get lost (downstream of altered splice site)
230263REPEATTPR 2.might get lost (downstream of altered splice site)
244244CONFLICTE -> K (in Ref. 3; CAG17882).might get lost (downstream of altered splice site)
262262MUTAGENG->S: No interaction with NUB1.might get lost (downstream of altered splice site)
264297REPEATTPR 3.might get lost (downstream of altered splice site)
306315CONFLICTRLLENRMAEK -> EAAGEPHGGE (in Ref. 1; AAF26708).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 966 / 966
position (AA) of stopcodon in wt / mu AA sequence 322 / 322
position of stopcodon in wt / mu cDNA 1061 / 1061
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 96 / 96
chromosome 17
strand -1
last intron/exon boundary 691
theoretical NMD boundary in CDS 545
length of CDS 966
coding sequence (CDS) position 526
cDNA position
(for ins/del: last normal base / first normal base)		 621
gDNA position
(for ins/del: last normal base / first normal base)		 8516
chromosomal position
(for ins/del: last normal base / first normal base)		 6330004
original gDNA sequence snippet TGATCCTCAACTACTGCCAGTGCCTGCTGAAGAAGGAGGAG
altered gDNA sequence snippet TGATCCTCAACTACTGCCAGCGCCTGCTGAAGAAGGAGGAG
original cDNA sequence snippet TGATCCTCAACTACTGCCAGTGCCTGCTGAAGAAGGAGGAG
altered cDNA sequence snippet TGATCCTCAACTACTGCCAGCGCCTGCTGAAGAAGGAGGAG
wildtype AA sequence MDAALLLNVE GVKKTILHGG TGELPNFITG SRVIFHFRTM KCDEERTVID DSRQVGQPMH
IIIGNMFKLE VWEILLTSMR VHEVAEFWCD TIVDAPSDYQ RETWNLSNHE KMKAVPVLHG
EGNRLFKLGR YEEASSKYQE AIICLRNLQT KEKPWEVQWL KLEKMINTLI LNYCQCLLKK
EEYYEVLEHT SDILRHHPGI VKAYYVRARA HAEVWNEAEA KADLQKVLEL EPSMQKAVRR
ELRLLENRMA EKQEEERLRC RNMLSQGATQ PPAEPPTEPP AQSSTEPPAE PPTAPSAELS
AGPPAEPATE PPPSPGHSLQ H*
mutated AA sequence MDAALLLNVE GVKKTILHGG TGELPNFITG SRVIFHFRTM KCDEERTVID DSRQVGQPMH
IIIGNMFKLE VWEILLTSMR VHEVAEFWCD TIVDAPSDYQ RETWNLSNHE KMKAVPVLHG
EGNRLFKLGR YEEASSKYQE AIICLRNLQT KEKPWEVQWL KLEKMINTLI LNYCQRLLKK
EEYYEVLEHT SDILRHHPGI VKAYYVRARA HAEVWNEAEA KADLQKVLEL EPSMQKAVRR
ELRLLENRMA EKQEEERLRC RNMLSQGATQ PPAEPPTEPP AQSSTEPPAE PPTAPSAELS
AGPPAEPATE PPPSPGHSLQ H*
speed 1.03 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

disease causing

 Model: simple_aae, prob: 0.999999999992035 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM000002)
  • known disease mutation: rs5567 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:6330004A>GN/A show variant in all transcripts   IGV
HGNC symbol AIPL1
Ensembl transcript ID ENST00000574506
Genbank transcript ID N/A
UniProt peptide Q9NZN9
alteration type single base exchange
alteration region CDS
DNA changes c.679T>C
cDNA.708T>C
g.8516T>C
AA changes C227R Score: 180 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 227
frameshift no
known variant Reference ID: rs62637012
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation: rs5567 (pathogenic for Leber congenital amaurosis 4|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM000002)

known disease mutation at this position, please check HGMD for details (HGMD ID CM000002)
known disease mutation at this position, please check HGMD for details (HGMD ID CM000002)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.361
2.6321
(flanking)0.3931
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased8508wt: 0.21 / mu: 0.33wt: CAATACTCTGATCCTCAACTACTGCCAGTGCCTGCTGAAGA
mu: CAATACTCTGATCCTCAACTACTGCCAGCGCCTGCTGAAGA		 acta|CTGC
distance from splice site 70
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      227MINTLILNYCQCLLKKEEYYEVLE
mutated  not conserved    227MINTLILNYCQRLLKKEEYYEVL
Ptroglodytes  all identical  ENSPTRG00000008640  239MINTLILNYCQCLLKKEEYYEVL
Mmulatta  all identical  ENSMMUG00000017759  239MINTLTLNYCQCLLKKEEYYEVL
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000040554  239MINTLILNYCQCLLKKEEYYEVL
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000016169  239MANTLTLNYCQCLLRME
Drerio  all identical  ENSDARG00000075067  239MANTLTLNYCQCLLRMEEYYEVI
Dmelanogaster  all identical  FBgn0030345  232IKTPLLLNYAQCRLIAGDFYAVI
Celegans  all identical  C56C10.10  252KNIPLYANMSQCYLNIGDLHEAE
Xtropicalis  all identical  ENSXETG00000006821  239MINTLVLNYCQCLLRMEEYYEVI
protein features
start (aa)end (aa)featuredetails 
230263REPEATTPR 2.might get lost (downstream of altered splice site)
244244CONFLICTE -> K (in Ref. 3; CAG17882).might get lost (downstream of altered splice site)
262262MUTAGENG->S: No interaction with NUB1.might get lost (downstream of altered splice site)
264297REPEATTPR 3.might get lost (downstream of altered splice site)
306315CONFLICTRLLENRMAEK -> EAAGEPHGGE (in Ref. 1; AAF26708).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1119 / 1119
position (AA) of stopcodon in wt / mu AA sequence 373 / 373
position of stopcodon in wt / mu cDNA 1148 / 1148
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 30 / 30
chromosome 17
strand -1
last intron/exon boundary 778
theoretical NMD boundary in CDS 698
length of CDS 1119
coding sequence (CDS) position 679
cDNA position
(for ins/del: last normal base / first normal base)		 708
gDNA position
(for ins/del: last normal base / first normal base)		 8516
chromosomal position
(for ins/del: last normal base / first normal base)		 6330004
original gDNA sequence snippet TGATCCTCAACTACTGCCAGTGCCTGCTGAAGAAGGAGGAG
altered gDNA sequence snippet TGATCCTCAACTACTGCCAGCGCCTGCTGAAGAAGGAGGAG
original cDNA sequence snippet TGATCCTCAACTACTGCCAGTGCCTGCTGAAGAAGGAGGAG
altered cDNA sequence snippet TGATCCTCAACTACTGCCAGCGCCTGCTGAAGAAGGAGGAG
wildtype AA sequence MDAALLLNVE GVKKTILHGG TGELPNFITG SRERTVIDDS RQVGQPMHII IGNMFKLEVW
EILLTSMRVH EVAEFWCDTI HTGVYPILSR SLRQMAQGKD PTEWHVHTCG LANMFAYHTL
GYEDLDELQK EPQPLVFVIE LLQVDAPSDY QRETWNLSNH EKMKAVPVLH GEGNRLFKLG
RYEEASSKYQ EAIICLRNLQ TKEKPWEVQW LKLEKMINTL ILNYCQCLLK KEEYYEVLEH
TSDILRHHPG IVKAYYVRAR AHAEVWNEAE AKADLQKVLE LEPSMQKAVR RELRLLENRM
AEKQEEERLR CRNMLSQGAT QPPAEPPTEP PAQSSTEPPA EPPTAPSAEL SAGPPAEPAT
EPPPSPGHSL QH*
mutated AA sequence MDAALLLNVE GVKKTILHGG TGELPNFITG SRERTVIDDS RQVGQPMHII IGNMFKLEVW
EILLTSMRVH EVAEFWCDTI HTGVYPILSR SLRQMAQGKD PTEWHVHTCG LANMFAYHTL
GYEDLDELQK EPQPLVFVIE LLQVDAPSDY QRETWNLSNH EKMKAVPVLH GEGNRLFKLG
RYEEASSKYQ EAIICLRNLQ TKEKPWEVQW LKLEKMINTL ILNYCQRLLK KEEYYEVLEH
TSDILRHHPG IVKAYYVRAR AHAEVWNEAE AKADLQKVLE LEPSMQKAVR RELRLLENRM
AEKQEEERLR CRNMLSQGAT QPPAEPPTEP PAQSSTEPPA EPPTAPSAEL SAGPPAEPAT
EPPPSPGHSL QH*
speed 1.04 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

disease causing

 Model: simple_aae, prob: 0.999999999992035 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM000002)
  • known disease mutation: rs5567 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:6330004A>GN/A show variant in all transcripts   IGV
HGNC symbol AIPL1
Ensembl transcript ID ENST00000570466
Genbank transcript ID N/A
UniProt peptide Q9NZN9
alteration type single base exchange
alteration region CDS
DNA changes c.649T>C
cDNA.697T>C
g.8516T>C
AA changes C217R Score: 180 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 217
frameshift no
known variant Reference ID: rs62637012
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation: rs5567 (pathogenic for Leber congenital amaurosis 4|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM000002)

known disease mutation at this position, please check HGMD for details (HGMD ID CM000002)
known disease mutation at this position, please check HGMD for details (HGMD ID CM000002)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.361
2.6321
(flanking)0.3931
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased8508wt: 0.21 / mu: 0.33wt: CAATACTCTGATCCTCAACTACTGCCAGTGCCTGCTGAAGA
mu: CAATACTCTGATCCTCAACTACTGCCAGCGCCTGCTGAAGA		 acta|CTGC
distance from splice site 70
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      217MINTLILNYCQCLLKKEEYYEVLE
mutated  not conserved    217MINTLILNYCQRLLKKEEYYEVL
Ptroglodytes  all identical  ENSPTRG00000008640  239MINTLILNYCQCLLKKEEYYEVL
Mmulatta  all identical  ENSMMUG00000017759  239MINTLTLNYCQCLLKKEEYYEVL
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000040554  239MINTLILNYCQCLLKKEEYYEVL
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000016169  239MANTLTLNYCQCLLRME
Drerio  all identical  ENSDARG00000075067  239MANTLTLNYCQCLLRMEEYYEVI
Dmelanogaster  all identical  FBgn0030345  232PLLLNYAQCRLIAGDFYAVI
Celegans  all identical  C56C10.10  252MSQCYLNIGDLHEAE
Xtropicalis  all identical  ENSXETG00000006821  239MINTLVLNYCQCLLRMEEYYEVI
protein features
start (aa)end (aa)featuredetails 
230263REPEATTPR 2.might get lost (downstream of altered splice site)
244244CONFLICTE -> K (in Ref. 3; CAG17882).might get lost (downstream of altered splice site)
262262MUTAGENG->S: No interaction with NUB1.might get lost (downstream of altered splice site)
264297REPEATTPR 3.might get lost (downstream of altered splice site)
306315CONFLICTRLLENRMAEK -> EAAGEPHGGE (in Ref. 1; AAF26708).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1089 / 1089
position (AA) of stopcodon in wt / mu AA sequence 363 / 363
position of stopcodon in wt / mu cDNA 1137 / 1137
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 49 / 49
chromosome 17
strand -1
last intron/exon boundary 767
theoretical NMD boundary in CDS 668
length of CDS 1089
coding sequence (CDS) position 649
cDNA position
(for ins/del: last normal base / first normal base)		 697
gDNA position
(for ins/del: last normal base / first normal base)		 8516
chromosomal position
(for ins/del: last normal base / first normal base)		 6330004
original gDNA sequence snippet TGATCCTCAACTACTGCCAGTGCCTGCTGAAGAAGGAGGAG
altered gDNA sequence snippet TGATCCTCAACTACTGCCAGCGCCTGCTGAAGAAGGAGGAG
original cDNA sequence snippet TGATCCTCAACTACTGCCAGTGCCTGCTGAAGAAGGAGGAG
altered cDNA sequence snippet TGATCCTCAACTACTGCCAGCGCCTGCTGAAGAAGGAGGAG
wildtype AA sequence MDAALLLNVE GVKKTILHGG TGELPNFITG SRVGQPMHII IGNMFKLEVW EILLTSMRVH
EVAEFWCDTI HTGVYPILSR SLRQMAQGKD PTEWHVHTCG LANMFAYHTL GYEDLDELQK
EPQPLVFVIE LLQVDAPSDY QRETWNLSNH EKMKAVPVLH GEGNRLFKLG RYEEASSKYQ
EAIICLRNLQ TKEKPWEVQW LKLEKMINTL ILNYCQCLLK KEEYYEVLEH TSDILRHHPG
IVKAYYVRAR AHAEVWNEAE AKADLQKVLE LEPSMQKAVR RELRLLENRM AEKQEEERLR
CRNMLSQGAT QPPAEPPTEP PAQSSTEPPA EPPTAPSAEL SAGPPAEPAT EPPPSPGHSL
QH*
mutated AA sequence MDAALLLNVE GVKKTILHGG TGELPNFITG SRVGQPMHII IGNMFKLEVW EILLTSMRVH
EVAEFWCDTI HTGVYPILSR SLRQMAQGKD PTEWHVHTCG LANMFAYHTL GYEDLDELQK
EPQPLVFVIE LLQVDAPSDY QRETWNLSNH EKMKAVPVLH GEGNRLFKLG RYEEASSKYQ
EAIICLRNLQ TKEKPWEVQW LKLEKMINTL ILNYCQRLLK KEEYYEVLEH TSDILRHHPG
IVKAYYVRAR AHAEVWNEAE AKADLQKVLE LEPSMQKAVR RELRLLENRM AEKQEEERLR
CRNMLSQGAT QPPAEPPTEP PAQSSTEPPA EPPTAPSAEL SAGPPAEPAT EPPPSPGHSL
QH*
speed 1.21 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

disease causing

 Model: simple_aae, prob: 0.999999999994103 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM000002)
  • known disease mutation: rs5567 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:6330004A>GN/A show variant in all transcripts   IGV
HGNC symbol AIPL1
Ensembl transcript ID ENST00000381129
Genbank transcript ID NM_014336
UniProt peptide Q9NZN9
alteration type single base exchange
alteration region CDS
DNA changes c.715T>C
cDNA.796T>C
g.8516T>C
AA changes C239R Score: 180 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 239
frameshift no
known variant Reference ID: rs62637012
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation: rs5567 (pathogenic for Leber congenital amaurosis 4|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM000002)

known disease mutation at this position, please check HGMD for details (HGMD ID CM000002)
known disease mutation at this position, please check HGMD for details (HGMD ID CM000002)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.361
2.6321
(flanking)0.3931
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased8508wt: 0.21 / mu: 0.33wt: CAATACTCTGATCCTCAACTACTGCCAGTGCCTGCTGAAGA
mu: CAATACTCTGATCCTCAACTACTGCCAGCGCCTGCTGAAGA		 acta|CTGC
distance from splice site 70
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      239MINTLILNYCQCLLKKEEYYEVLE
mutated  not conserved    239MINTLILNYCQRLLKKEEYYEVL
Ptroglodytes  all identical  ENSPTRG00000008640  239MINTLILNYCQCLLKKEEYYEVL
Mmulatta  all identical  ENSMMUG00000017759  239MINTLTLNYCQCLLKKEEYYEVL
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000040554  239MINTLILNYCQCLLKKEEYYEVL
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000016169  239MANTLTLNYCQCLLRME
Drerio  all identical  ENSDARG00000075067  239MANTLTLNYCQCLLRMEEYYEVI
Dmelanogaster  all identical  FBgn0030345  232IKTPLLLNYAQCRLIAG
Celegans  all identical  C56C10.10  252ANMSQCYLNIGDLHEAE
Xtropicalis  all identical  ENSXETG00000006821  239MINTLVLNYCQCLLRMEEYYEVI
protein features
start (aa)end (aa)featuredetails 
230263REPEATTPR 2.lost
244244CONFLICTE -> K (in Ref. 3; CAG17882).might get lost (downstream of altered splice site)
262262MUTAGENG->S: No interaction with NUB1.might get lost (downstream of altered splice site)
264297REPEATTPR 3.might get lost (downstream of altered splice site)
306315CONFLICTRLLENRMAEK -> EAAGEPHGGE (in Ref. 1; AAF26708).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1155 / 1155
position (AA) of stopcodon in wt / mu AA sequence 385 / 385
position of stopcodon in wt / mu cDNA 1236 / 1236
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 82 / 82
chromosome 17
strand -1
last intron/exon boundary 866
theoretical NMD boundary in CDS 734
length of CDS 1155
coding sequence (CDS) position 715
cDNA position
(for ins/del: last normal base / first normal base)		 796
gDNA position
(for ins/del: last normal base / first normal base)		 8516
chromosomal position
(for ins/del: last normal base / first normal base)		 6330004
original gDNA sequence snippet TGATCCTCAACTACTGCCAGTGCCTGCTGAAGAAGGAGGAG
altered gDNA sequence snippet TGATCCTCAACTACTGCCAGCGCCTGCTGAAGAAGGAGGAG
original cDNA sequence snippet TGATCCTCAACTACTGCCAGTGCCTGCTGAAGAAGGAGGAG
altered cDNA sequence snippet TGATCCTCAACTACTGCCAGCGCCTGCTGAAGAAGGAGGAG
wildtype AA sequence MDAALLLNVE GVKKTILHGG TGELPNFITG SRVIFHFRTM KCDEERTVID DSRQVGQPMH
IIIGNMFKLE VWEILLTSMR VHEVAEFWCD TIHTGVYPIL SRSLRQMAQG KDPTEWHVHT
CGLANMFAYH TLGYEDLDEL QKEPQPLVFV IELLQVDAPS DYQRETWNLS NHEKMKAVPV
LHGEGNRLFK LGRYEEASSK YQEAIICLRN LQTKEKPWEV QWLKLEKMIN TLILNYCQCL
LKKEEYYEVL EHTSDILRHH PGIVKAYYVR ARAHAEVWNE AEAKADLQKV LELEPSMQKA
VRRELRLLEN RMAEKQEEER LRCRNMLSQG ATQPPAEPPT EPPAQSSTEP PAEPPTAPSA
ELSAGPPAEP ATEPPPSPGH SLQH*
mutated AA sequence MDAALLLNVE GVKKTILHGG TGELPNFITG SRVIFHFRTM KCDEERTVID DSRQVGQPMH
IIIGNMFKLE VWEILLTSMR VHEVAEFWCD TIHTGVYPIL SRSLRQMAQG KDPTEWHVHT
CGLANMFAYH TLGYEDLDEL QKEPQPLVFV IELLQVDAPS DYQRETWNLS NHEKMKAVPV
LHGEGNRLFK LGRYEEASSK YQEAIICLRN LQTKEKPWEV QWLKLEKMIN TLILNYCQRL
LKKEEYYEVL EHTSDILRHH PGIVKAYYVR ARAHAEVWNE AEAKADLQKV LELEPSMQKA
VRRELRLLEN RMAEKQEEER LRCRNMLSQG ATQPPAEPPT EPPAQSSTEP PAEPPTAPSA
ELSAGPPAEP ATEPPPSPGH SLQH*
speed 0.53 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

disease causing

 Model: simple_aae, prob: 0.999999999994103 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM000002)
  • known disease mutation: rs5567 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:6330004A>GN/A show variant in all transcripts   IGV
HGNC symbol AIPL1
Ensembl transcript ID ENST00000575265
Genbank transcript ID N/A
UniProt peptide Q9NZN9
alteration type single base exchange
alteration region CDS
DNA changes c.715T>C
cDNA.732T>C
g.8516T>C
AA changes C239R Score: 180 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 239
frameshift no
known variant Reference ID: rs62637012
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation: rs5567 (pathogenic for Leber congenital amaurosis 4|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM000002)

known disease mutation at this position, please check HGMD for details (HGMD ID CM000002)
known disease mutation at this position, please check HGMD for details (HGMD ID CM000002)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.361
2.6321
(flanking)0.3931
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased8508wt: 0.21 / mu: 0.33wt: CAATACTCTGATCCTCAACTACTGCCAGTGCCTGCTGAAGA
mu: CAATACTCTGATCCTCAACTACTGCCAGCGCCTGCTGAAGA		 acta|CTGC
distance from splice site 73
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      239MINTLILNYCQCLLKKEEYYEVLE
mutated  not conserved    239MINTLILNYCQRLLKKEEYYEVL
Ptroglodytes  all identical  ENSPTRG00000008640  239MINTLILNYCQCLLKKEEYYEVL
Mmulatta  all identical  ENSMMUG00000017759  239MINTLTLNYCQCLLKKEEYYEVL
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000040554  239MINTLILNYCQCLLKKEEYYEVL
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000016169  239MANTLTLNYCQCLLRME
Drerio  all identical  ENSDARG00000075067  239MANTLTLNYCQCLLRMEEYYEVI
Dmelanogaster  all identical  FBgn0030345  232IKTPLLLNYAQCRLIAG
Celegans  all identical  C56C10.10  252ANMSQCYLNIGDLHEAE
Xtropicalis  all identical  ENSXETG00000006821  239MINTLVLNYCQCLLRMEEYYEVI
protein features
start (aa)end (aa)featuredetails 
230263REPEATTPR 2.lost
244244CONFLICTE -> K (in Ref. 3; CAG17882).might get lost (downstream of altered splice site)
262262MUTAGENG->S: No interaction with NUB1.might get lost (downstream of altered splice site)
264297REPEATTPR 3.might get lost (downstream of altered splice site)
306315CONFLICTRLLENRMAEK -> EAAGEPHGGE (in Ref. 1; AAF26708).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 813 / 813
position (AA) of stopcodon in wt / mu AA sequence 271 / 271
position of stopcodon in wt / mu cDNA 830 / 830
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 18 / 18
chromosome 17
strand -1
last intron/exon boundary 660
theoretical NMD boundary in CDS 592
length of CDS 813
coding sequence (CDS) position 715
cDNA position
(for ins/del: last normal base / first normal base)		 732
gDNA position
(for ins/del: last normal base / first normal base)		 8516
chromosomal position
(for ins/del: last normal base / first normal base)		 6330004
original gDNA sequence snippet TGATCCTCAACTACTGCCAGTGCCTGCTGAAGAAGGAGGAG
altered gDNA sequence snippet TGATCCTCAACTACTGCCAGCGCCTGCTGAAGAAGGAGGAG
original cDNA sequence snippet TGATCCTCAACTACTGCCAGTGCCTGCTGAAGAAGGAGGAG
altered cDNA sequence snippet TGATCCTCAACTACTGCCAGCGCCTGCTGAAGAAGGAGGAG
wildtype AA sequence MDAALLLNVE GVKKTILHGG TGELPNFITG SRVIFHFRTM KCDEERTVID DSRQVGQPMH
IIIGNMFKLE VWEILLTSMR VHEVAEFWCD TIHTGVYPIL SRSLRQMAQG KDPTEWHVHT
CGLANMFAYH TLGYEDLDEL QKEPQPLVFV IELLQVDAPS DYQRETWNLS NHEKMKAVPV
LHGEGNRLFK LGRYEEASSK YQEAIICLRN LQTKEKPWEV QWLKLEKMIN TLILNYCQCL
LKKEEYYEVL EHTSDILRHH PGARGCRGGQ *
mutated AA sequence MDAALLLNVE GVKKTILHGG TGELPNFITG SRVIFHFRTM KCDEERTVID DSRQVGQPMH
IIIGNMFKLE VWEILLTSMR VHEVAEFWCD TIHTGVYPIL SRSLRQMAQG KDPTEWHVHT
CGLANMFAYH TLGYEDLDEL QKEPQPLVFV IELLQVDAPS DYQRETWNLS NHEKMKAVPV
LHGEGNRLFK LGRYEEASSK YQEAIICLRN LQTKEKPWEV QWLKLEKMIN TLILNYCQRL
LKKEEYYEVL EHTSDILRHH PGARGCRGGQ *
speed 1.19 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

disease causing

 Model: simple_aae, prob: 0.999999999994103 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM000002)
  • known disease mutation: rs5567 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:6330004A>GN/A show variant in all transcripts   IGV
HGNC symbol AIPL1
Ensembl transcript ID ENST00000576307
Genbank transcript ID NM_001033055
UniProt peptide Q9NZN9
alteration type single base exchange
alteration region CDS
DNA changes c.535T>C
cDNA.583T>C
g.8516T>C
AA changes C179R Score: 180 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 179
frameshift no
known variant Reference ID: rs62637012
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation: rs5567 (pathogenic for Leber congenital amaurosis 4|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM000002)

known disease mutation at this position, please check HGMD for details (HGMD ID CM000002)
known disease mutation at this position, please check HGMD for details (HGMD ID CM000002)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.361
2.6321
(flanking)0.3931
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased8508wt: 0.21 / mu: 0.33wt: CAATACTCTGATCCTCAACTACTGCCAGTGCCTGCTGAAGA
mu: CAATACTCTGATCCTCAACTACTGCCAGCGCCTGCTGAAGA		 acta|CTGC
distance from splice site 70
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      179MINTLILNYCQCLLKKEEYYEVLE
mutated  not conserved    179MINTLILNYCQRLLKKEEYYEVL
Ptroglodytes  all identical  ENSPTRG00000008640  239MINTLILNYCQCLLKKEEYYEVL
Mmulatta  all identical  ENSMMUG00000017759  239MINTLTLNYCQCLLKKEEYYEVL
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000040554  239MINTLILNYCQCLLKKEEYYEVL
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000016169  239MANTLTLNYCQCLLRMEEYYEVI
Drerio  all identical  ENSDARG00000075067  239MANTLTLNYCQCLLRMEEYYEVI
Dmelanogaster  all identical  FBgn0030345  232IKTPLLLNYAQCRLIAGDFYAVI
Celegans  all identical  C56C10.10  252KNIPLYANMSQCYLNIGDLHEAE
Xtropicalis  all identical  ENSXETG00000006821  239MINTLVLNYCQCLLRMEEYYEVI
protein features
start (aa)end (aa)featuredetails 
178211REPEATTPR 1.lost
197197MUTAGENA->P: No significant effect on interaction with NUB1.might get lost (downstream of altered splice site)
206206MUTAGENI->N: No significant effect on interaction with NUB1.might get lost (downstream of altered splice site)
230263REPEATTPR 2.might get lost (downstream of altered splice site)
244244CONFLICTE -> K (in Ref. 3; CAG17882).might get lost (downstream of altered splice site)
262262MUTAGENG->S: No interaction with NUB1.might get lost (downstream of altered splice site)
264297REPEATTPR 3.might get lost (downstream of altered splice site)
306315CONFLICTRLLENRMAEK -> EAAGEPHGGE (in Ref. 1; AAF26708).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 975 / 975
position (AA) of stopcodon in wt / mu AA sequence 325 / 325
position of stopcodon in wt / mu cDNA 1023 / 1023
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 49 / 49
chromosome 17
strand -1
last intron/exon boundary 653
theoretical NMD boundary in CDS 554
length of CDS 975
coding sequence (CDS) position 535
cDNA position
(for ins/del: last normal base / first normal base)		 583
gDNA position
(for ins/del: last normal base / first normal base)		 8516
chromosomal position
(for ins/del: last normal base / first normal base)		 6330004
original gDNA sequence snippet TGATCCTCAACTACTGCCAGTGCCTGCTGAAGAAGGAGGAG
altered gDNA sequence snippet TGATCCTCAACTACTGCCAGCGCCTGCTGAAGAAGGAGGAG
original cDNA sequence snippet TGATCCTCAACTACTGCCAGTGCCTGCTGAAGAAGGAGGAG
altered cDNA sequence snippet TGATCCTCAACTACTGCCAGCGCCTGCTGAAGAAGGAGGAG
wildtype AA sequence MDAALLLNVE GVKKTILHGG TGELPNFITG SRHTGVYPIL SRSLRQMAQG KDPTEWHVHT
CGLANMFAYH TLGYEDLDEL QKEPQPLVFV IELLQVDAPS DYQRETWNLS NHEKMKAVPV
LHGEGNRLFK LGRYEEASSK YQEAIICLRN LQTKEKPWEV QWLKLEKMIN TLILNYCQCL
LKKEEYYEVL EHTSDILRHH PGIVKAYYVR ARAHAEVWNE AEAKADLQKV LELEPSMQKA
VRRELRLLEN RMAEKQEEER LRCRNMLSQG ATQPPAEPPT EPPAQSSTEP PAEPPTAPSA
ELSAGPPAEP ATEPPPSPGH SLQH*
mutated AA sequence MDAALLLNVE GVKKTILHGG TGELPNFITG SRHTGVYPIL SRSLRQMAQG KDPTEWHVHT
CGLANMFAYH TLGYEDLDEL QKEPQPLVFV IELLQVDAPS DYQRETWNLS NHEKMKAVPV
LHGEGNRLFK LGRYEEASSK YQEAIICLRN LQTKEKPWEV QWLKLEKMIN TLILNYCQRL
LKKEEYYEVL EHTSDILRHH PGIVKAYYVR ARAHAEVWNE AEAKADLQKV LELEPSMQKA
VRRELRLLEN RMAEKQEEER LRCRNMLSQG ATQPPAEPPT EPPAQSSTEP PAEPPTAPSA
ELSAGPPAEP ATEPPPSPGH SLQH*
speed 0.70 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

disease causing

 Model: simple_aae, prob: 0.999999999994103 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM000002)
  • known disease mutation: rs5567 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:6330004A>GN/A show variant in all transcripts   IGV
HGNC symbol AIPL1
Ensembl transcript ID ENST00000571740
Genbank transcript ID N/A
UniProt peptide Q9NZN9
alteration type single base exchange
alteration region CDS
DNA changes c.691T>C
cDNA.707T>C
g.8516T>C
AA changes C231R Score: 180 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 231
frameshift no
known variant Reference ID: rs62637012
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation: rs5567 (pathogenic for Leber congenital amaurosis 4|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM000002)

known disease mutation at this position, please check HGMD for details (HGMD ID CM000002)
known disease mutation at this position, please check HGMD for details (HGMD ID CM000002)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.361
2.6321
(flanking)0.3931
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased8508wt: 0.21 / mu: 0.33wt: CAATACTCTGATCCTCAACTACTGCCAGTGCCTGCTGAAGA
mu: CAATACTCTGATCCTCAACTACTGCCAGCGCCTGCTGAAGA		 acta|CTGC
distance from splice site 73
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      231MINTLILNYCQCLLKKEEYYEVLE
mutated  not conserved    231MINTLILNYCQRLLKKEEYYE
Ptroglodytes  all identical  ENSPTRG00000008640  239MINTLILNYCQCLLKKEEYYEVL
Mmulatta  all identical  ENSMMUG00000017759  239MINTLTLNYCQCLLKKEEYYEVL
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000040554  239MINTLILNYCQCLLKKEEYYEVL
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000016169  239MANTLTLNYCQCLLRME
Drerio  all identical  ENSDARG00000075067  239MANTLTLNYCQCLLRMEEYYEVI
Dmelanogaster  all identical  FBgn0030345  232IKTPLLLNYAQCRLIAG
Celegans  all identical  C56C10.10  252ANMSQCYLNIGDLHEAE
Xtropicalis  all identical  ENSXETG00000006821  239MINTLVLNYCQCLLRMEEYYEVI
protein features
start (aa)end (aa)featuredetails 
230263REPEATTPR 2.lost
244244CONFLICTE -> K (in Ref. 3; CAG17882).might get lost (downstream of altered splice site)
262262MUTAGENG->S: No interaction with NUB1.might get lost (downstream of altered splice site)
264297REPEATTPR 3.might get lost (downstream of altered splice site)
306315CONFLICTRLLENRMAEK -> EAAGEPHGGE (in Ref. 1; AAF26708).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 789 / 789
position (AA) of stopcodon in wt / mu AA sequence 263 / 263
position of stopcodon in wt / mu cDNA 805 / 805
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 17 / 17
chromosome 17
strand -1
last intron/exon boundary 635
theoretical NMD boundary in CDS 568
length of CDS 789
coding sequence (CDS) position 691
cDNA position
(for ins/del: last normal base / first normal base)		 707
gDNA position
(for ins/del: last normal base / first normal base)		 8516
chromosomal position
(for ins/del: last normal base / first normal base)		 6330004
original gDNA sequence snippet TGATCCTCAACTACTGCCAGTGCCTGCTGAAGAAGGAGGAG
altered gDNA sequence snippet TGATCCTCAACTACTGCCAGCGCCTGCTGAAGAAGGAGGAG
original cDNA sequence snippet TGATCCTCAACTACTGCCAGTGCCTGCTGAAGAAGGAGGAG
altered cDNA sequence snippet TGATCCTCAACTACTGCCAGCGCCTGCTGAAGAAGGAGGAG
wildtype AA sequence MDAALLLNVE GVKKTILHGG TGELPNFITG SRVIFHFRTM KCDEERTVID DSRQVGQPMH
IIIGNMFKLE VWEILLTSMR VHEVAEFWCD TIHTGVYPIL SRSLRQMAQG KDPTEWHVHT
CGLANMFAYH TLGYEDLDEL QKEPQPLVFV IELLQRETWN LSNHEKMKAV PVLHGEGNRL
FKLGRYEEAS SKYQEAIICL RNLQTKEKPW EVQWLKLEKM INTLILNYCQ CLLKKEEYYE
VLEHTSDILR HHPGARGCRG GQ*
mutated AA sequence MDAALLLNVE GVKKTILHGG TGELPNFITG SRVIFHFRTM KCDEERTVID DSRQVGQPMH
IIIGNMFKLE VWEILLTSMR VHEVAEFWCD TIHTGVYPIL SRSLRQMAQG KDPTEWHVHT
CGLANMFAYH TLGYEDLDEL QKEPQPLVFV IELLQRETWN LSNHEKMKAV PVLHGEGNRL
FKLGRYEEAS SKYQEAIICL RNLQTKEKPW EVQWLKLEKM INTLILNYCQ RLLKKEEYYE
VLEHTSDILR HHPGARGCRG GQ*
speed 1.08 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

disease causing

 Model: simple_aae, prob: 0.999999999995696 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM000002)
  • known disease mutation: rs5567 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:6330004A>GN/A show variant in all transcripts   IGV
HGNC symbol AIPL1
Ensembl transcript ID ENST00000576776
Genbank transcript ID N/A
UniProt peptide Q9NZN9
alteration type single base exchange
alteration region CDS
DNA changes c.643T>C
cDNA.691T>C
g.8516T>C
AA changes C215R Score: 180 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 215
frameshift no
known variant Reference ID: rs62637012
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation: rs5567 (pathogenic for Leber congenital amaurosis 4|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM000002)

known disease mutation at this position, please check HGMD for details (HGMD ID CM000002)
known disease mutation at this position, please check HGMD for details (HGMD ID CM000002)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.361
2.6321
(flanking)0.3931
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites alteration within used splice site, likely to disturb normal splicing
effectgDNA positionscoredetection sequence  exon-intron border
Acceptor lost8515.5sequence motif lost- wt: gcca|GTGC
 mu: gcca.GCGC
Acc increased8508wt: 0.21 / mu: 0.33wt: CAATACTCTGATCCTCAACTACTGCCAGTGCCTGCTGAAGA
mu: CAATACTCTGATCCTCAACTACTGCCAGCGCCTGCTGAAGA		 acta|CTGC
distance from splice site 2
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      215AIICLRNLQTKCLLKKEEYYEVLE
mutated  not conserved    215AIICLRNLQTKRLLKKEEYYEVL
Ptroglodytes  all identical  ENSPTRG00000008640  215AIICLRNLQTKEKPWEVQWLKLEKMINTLILNYCQCL
Mmulatta  all identical  ENSMMUG00000017759  215AIICLRNLQTKEKPWEVQWLKLEKMINTLTLNYCQCL
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000040554  215AIVCLRNLQTKEKPWEVEWLKLEKMINTLILNYCQCL
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000016169  215AIICLKNVQTKEKAWDVPWLKLEKMANTLTLNYCQCLLRME
Drerio  all identical  ENSDARG00000075067  215AIICIKNVQSKEKAWEAPWLKLEKMANTLTLNYCQCL
Dmelanogaster  all identical  FBgn0030345  208AVGIVEQLMLKEKPHDEEWQELAAIKTPLLLNYAQCRLIAG
Celegans  all identical  C56C10.10  250ANMSQCYLNIGDLHEAE
Xtropicalis  all identical  ENSXETG00000006821  215GVICLKNLQTKEKPWEVPWMKLEKMINTLVLNYCQCL
protein features
start (aa)end (aa)featuredetails 
230263REPEATTPR 2.might get lost (downstream of altered splice site)
244244CONFLICTE -> K (in Ref. 3; CAG17882).might get lost (downstream of altered splice site)
262262MUTAGENG->S: No interaction with NUB1.might get lost (downstream of altered splice site)
264297REPEATTPR 3.might get lost (downstream of altered splice site)
306315CONFLICTRLLENRMAEK -> EAAGEPHGGE (in Ref. 1; AAF26708).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1083 / 1083
position (AA) of stopcodon in wt / mu AA sequence 361 / 361
position of stopcodon in wt / mu cDNA 1131 / 1131
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 49 / 49
chromosome 17
strand -1
last intron/exon boundary 761
theoretical NMD boundary in CDS 662
length of CDS 1083
coding sequence (CDS) position 643
cDNA position
(for ins/del: last normal base / first normal base)		 691
gDNA position
(for ins/del: last normal base / first normal base)		 8516
chromosomal position
(for ins/del: last normal base / first normal base)		 6330004
original gDNA sequence snippet TGATCCTCAACTACTGCCAGTGCCTGCTGAAGAAGGAGGAG
altered gDNA sequence snippet TGATCCTCAACTACTGCCAGCGCCTGCTGAAGAAGGAGGAG
original cDNA sequence snippet TAAGGAACCTGCAGACCAAGTGCCTGCTGAAGAAGGAGGAG
altered cDNA sequence snippet TAAGGAACCTGCAGACCAAGCGCCTGCTGAAGAAGGAGGAG
wildtype AA sequence MDAALLLNVE GVKKTILHGG TGELPNFITG SRVIFHFRTM KCDEERTVID DSRQVGQPMH
IIIGNMFKLE VWEILLTSMR VHEVAEFWCD TIHTGVYPIL SRSLRQMAQG KDPTEWHVHT
CGLANMFAYH TLGYEDLDEL QKEPQPLVFV IELLQVDAPS DYQRETWNLS NHEKMKAVPV
LHGEGNRLFK LGRYEEASSK YQEAIICLRN LQTKCLLKKE EYYEVLEHTS DILRHHPGIV
KAYYVRARAH AEVWNEAEAK ADLQKVLELE PSMQKAVRRE LRLLENRMAE KQEEERLRCR
NMLSQGATQP PAEPPTEPPA QSSTEPPAEP PTAPSAELSA GPPAEPATEP PPSPGHSLQH
*
mutated AA sequence MDAALLLNVE GVKKTILHGG TGELPNFITG SRVIFHFRTM KCDEERTVID DSRQVGQPMH
IIIGNMFKLE VWEILLTSMR VHEVAEFWCD TIHTGVYPIL SRSLRQMAQG KDPTEWHVHT
CGLANMFAYH TLGYEDLDEL QKEPQPLVFV IELLQVDAPS DYQRETWNLS NHEKMKAVPV
LHGEGNRLFK LGRYEEASSK YQEAIICLRN LQTKRLLKKE EYYEVLEHTS DILRHHPGIV
KAYYVRARAH AEVWNEAEAK ADLQKVLELE PSMQKAVRRE LRLLENRMAE KQEEERLRCR
NMLSQGATQP PAEPPTEPPA QSSTEPPAEP PTAPSAELSA GPPAEPATEP PPSPGHSLQH
*
speed 1.14 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
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Problems