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 9 transcript(s)...
Querying Taster for transcript #1: ENST00000525139
Querying Taster for transcript #2: ENST00000256737
Querying Taster for transcript #3: ENST00000531568
Querying Taster for transcript #4: ENST00000537978
Querying Taster for transcript #5: ENST00000455601
Querying Taster for transcript #6: ENST00000529533
Querying Taster for transcript #7: ENST00000527569
Querying Taster for transcript #8: ENST00000436318
Querying Taster for transcript #9: ENST00000281268
MT speed 0 s - this script 6.518297 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
MUC15polymorphism_automatic4.21249501947329e-09simple_aaeaffectedT202Isingle base exchangers15783show file
MUC15polymorphism_automatic4.21249501947329e-09simple_aaeaffectedT229Isingle base exchangers15783show file
MUC15polymorphism_automatic4.21249501947329e-09simple_aaeaffectedT229Isingle base exchangers15783show file
MUC15polymorphism_automatic4.21249501947329e-09simple_aaeaffectedT229Isingle base exchangers15783show file
MUC15polymorphism_automatic4.21249501947329e-09simple_aaeaffectedT229Isingle base exchangers15783show file
ANO3polymorphism_automatic1.8934711317975e-05without_aaeaffectedsingle base exchangers15783show file
ANO3polymorphism_automatic1.8934711317975e-05without_aaeaffectedsingle base exchangers15783show file
ANO3polymorphism_automatic1.8934711317975e-05without_aaeaffectedsingle base exchangers15783show file
ANO3polymorphism_automatic1.8934711317975e-05without_aaeaffectedsingle base exchangers15783show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999995787505 (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) chr11:26586801G>AN/A show variant in all transcripts   IGV
HGNC symbol MUC15
Ensembl transcript ID ENST00000455601
Genbank transcript ID NM_145650
UniProt peptide Q8N387
alteration type single base exchange
alteration region CDS
DNA changes c.605C>T
cDNA.724C>T
g.6980C>T
AA changes T202I Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 202
frameshift no
known variant Reference ID: rs15783
databasehomozygous (A/A)heterozygousallele carriers
1000G80112142015
ExAC24245-157238522
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.1530
0.6330.024
(flanking)2.2810.038
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased6990wt: 0.74 / mu: 0.91wt: ACTGGGTTTACCCCTTATCAAGAAAAAACAACTCTACAGCC
mu: ACTGGGTTTATCCCTTATCAAGAAAAAACAACTCTACAGCC		 tcaa|GAAA
Acc increased6982wt: 0.45 / mu: 0.57wt: ATAGCTTCACTGGGTTTACCCCTTATCAAGAAAAAACAACT
mu: ATAGCTTCACTGGGTTTATCCCTTATCAAGAAAAAACAACT		 accc|CTTA
Acc marginally increased6989wt: 0.9310 / mu: 0.9645 (marginal change - not scored)wt: CACTGGGTTTACCCCTTATCAAGAAAAAACAACTCTACAGC
mu: CACTGGGTTTATCCCTTATCAAGAAAAAACAACTCTACAGC		 atca|AGAA
Acc increased6986wt: 0.33 / mu: 0.51wt: CTTCACTGGGTTTACCCCTTATCAAGAAAAAACAACTCTAC
mu: CTTCACTGGGTTTATCCCTTATCAAGAAAAAACAACTCTAC		 ctta|TCAA
Acc increased6985wt: 0.27 / mu: 0.38wt: GCTTCACTGGGTTTACCCCTTATCAAGAAAAAACAACTCTA
mu: GCTTCACTGGGTTTATCCCTTATCAAGAAAAAACAACTCTA		 cctt|ATCA
Donor marginally increased6985wt: 0.7651 / mu: 0.7861 (marginal change - not scored)wt: CCCCTTATCAAGAAA
mu: TCCCTTATCAAGAAA		 CCTT|atca
distance from splice site 90
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      202LTTNSDSFTGFTPYQEKTTLQPTL
mutated  not conserved    202LTTNSDSFTGFIPYQEKTTLQPT
Ptroglodytes  all identical  ENSPTRG00000003450  229LTTNSDSFTGFTPYQEKTTLQPT
Mmulatta  all identical  ENSMMUG00000012926  202LTTNSDSFTGFTPYQEKTTLQPT
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000050808  199LPTNNDNFAGFTPYQEKTTLQPT
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
24236TOPO_DOMExtracellular (Potential).lost
218218CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
225225CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
237257TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
258334TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1005 / 1005
position (AA) of stopcodon in wt / mu AA sequence 335 / 335
position of stopcodon in wt / mu cDNA 1124 / 1124
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 120 / 120
chromosome 11
strand -1
last intron/exon boundary 964
theoretical NMD boundary in CDS 794
length of CDS 1005
coding sequence (CDS) position 605
cDNA position
(for ins/del: last normal base / first normal base)		 724
gDNA position
(for ins/del: last normal base / first normal base)		 6980
chromosomal position
(for ins/del: last normal base / first normal base)		 26586801
original gDNA sequence snippet TGATAGCTTCACTGGGTTTACCCCTTATCAAGAAAAAACAA
altered gDNA sequence snippet TGATAGCTTCACTGGGTTTATCCCTTATCAAGAAAAAACAA
original cDNA sequence snippet TGATAGCTTCACTGGGTTTACCCCTTATCAAGAAAAAACAA
altered cDNA sequence snippet TGATAGCTTCACTGGGTTTATCCCTTATCAAGAAAAAACAA
wildtype AA sequence MLALAKILLI STLFYSLLSG SHGKENQDIN TTQNIAEVFK TMENKPISLE SEANLNSDKE
NITTSNLKAS HSPPLNLPNN SHGITDFSSN SSAEHSLGSL KPTSTISTSP PLIHSFVSKV
PWNAPIADED LLPISAHPNA TPALSSENFT WSLVNDTVKT PDNSSITVSI LSSEPTSPSV
TPLIVEPSGW LTTNSDSFTG FTPYQEKTTL QPTLKFTNNS KLFPNTSDPQ KENRNTGIVF
GAILGAILGV SLLTLVGYLL CGKRKTDSFS HRRLYDDRNE PVLRLDNAPE PYDVSFGNSS
YYNPTLNDSA MPESEENARD GIPMDDIPPL RTSV*
mutated AA sequence MLALAKILLI STLFYSLLSG SHGKENQDIN TTQNIAEVFK TMENKPISLE SEANLNSDKE
NITTSNLKAS HSPPLNLPNN SHGITDFSSN SSAEHSLGSL KPTSTISTSP PLIHSFVSKV
PWNAPIADED LLPISAHPNA TPALSSENFT WSLVNDTVKT PDNSSITVSI LSSEPTSPSV
TPLIVEPSGW LTTNSDSFTG FIPYQEKTTL QPTLKFTNNS KLFPNTSDPQ KENRNTGIVF
GAILGAILGV SLLTLVGYLL CGKRKTDSFS HRRLYDDRNE PVLRLDNAPE PYDVSFGNSS
YYNPTLNDSA MPESEENARD GIPMDDIPPL RTSV*
speed 0.57 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: 0.999999995787505 (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) chr11:26586801G>AN/A show variant in all transcripts   IGV
HGNC symbol MUC15
Ensembl transcript ID ENST00000529533
Genbank transcript ID N/A
UniProt peptide Q8N387
alteration type single base exchange
alteration region CDS
DNA changes c.686C>T
cDNA.924C>T
g.6980C>T
AA changes T229I Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 229
frameshift no
known variant Reference ID: rs15783
databasehomozygous (A/A)heterozygousallele carriers
1000G80112142015
ExAC24245-157238522
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.1530
0.6330.024
(flanking)2.2810.038
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased6990wt: 0.74 / mu: 0.91wt: ACTGGGTTTACCCCTTATCAAGAAAAAACAACTCTACAGCC
mu: ACTGGGTTTATCCCTTATCAAGAAAAAACAACTCTACAGCC		 tcaa|GAAA
Acc increased6982wt: 0.45 / mu: 0.57wt: ATAGCTTCACTGGGTTTACCCCTTATCAAGAAAAAACAACT
mu: ATAGCTTCACTGGGTTTATCCCTTATCAAGAAAAAACAACT		 accc|CTTA
Acc marginally increased6989wt: 0.9310 / mu: 0.9645 (marginal change - not scored)wt: CACTGGGTTTACCCCTTATCAAGAAAAAACAACTCTACAGC
mu: CACTGGGTTTATCCCTTATCAAGAAAAAACAACTCTACAGC		 atca|AGAA
Acc increased6986wt: 0.33 / mu: 0.51wt: CTTCACTGGGTTTACCCCTTATCAAGAAAAAACAACTCTAC
mu: CTTCACTGGGTTTATCCCTTATCAAGAAAAAACAACTCTAC		 ctta|TCAA
Acc increased6985wt: 0.27 / mu: 0.38wt: GCTTCACTGGGTTTACCCCTTATCAAGAAAAAACAACTCTA
mu: GCTTCACTGGGTTTATCCCTTATCAAGAAAAAACAACTCTA		 cctt|ATCA
Donor marginally increased6985wt: 0.7651 / mu: 0.7861 (marginal change - not scored)wt: CCCCTTATCAAGAAA
mu: TCCCTTATCAAGAAA		 CCTT|atca
distance from splice site 90
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      229LTTNSDSFTGFTPYQEKTTLQPTL
mutated  not conserved    229LTTNSDSFTGFIPYQEKTTLQPT
Ptroglodytes  all identical  ENSPTRG00000003450  229LTTNSDSFTGFTPYQEKTTLQPT
Mmulatta  all identical  ENSMMUG00000012926  202LTTNSDSFTGFTPYQEKTTLQPT
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000050808  199LPTNNDNFAGFTPYQEKTTLQPT
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
24236TOPO_DOMExtracellular (Potential).lost
237257TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
258334TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1086 / 1086
position (AA) of stopcodon in wt / mu AA sequence 362 / 362
position of stopcodon in wt / mu cDNA 1324 / 1324
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 239 / 239
chromosome 11
strand -1
last intron/exon boundary 1164
theoretical NMD boundary in CDS 875
length of CDS 1086
coding sequence (CDS) position 686
cDNA position
(for ins/del: last normal base / first normal base)		 924
gDNA position
(for ins/del: last normal base / first normal base)		 6980
chromosomal position
(for ins/del: last normal base / first normal base)		 26586801
original gDNA sequence snippet TGATAGCTTCACTGGGTTTACCCCTTATCAAGAAAAAACAA
altered gDNA sequence snippet TGATAGCTTCACTGGGTTTATCCCTTATCAAGAAAAAACAA
original cDNA sequence snippet TGATAGCTTCACTGGGTTTACCCCTTATCAAGAAAAAACAA
altered cDNA sequence snippet TGATAGCTTCACTGGGTTTATCCCTTATCAAGAAAAAACAA
wildtype AA sequence MGIIQSILAT SRDCYSFKKK PIPKKPTMLA LAKILLISTL FYSLLSGSHG KENQDINTTQ
NIAEVFKTME NKPISLESEA NLNSDKENIT TSNLKASHSP PLNLPNNSHG ITDFSSNSSA
EHSLGSLKPT STISTSPPLI HSFVSKVPWN APIADEDLLP ISAHPNATPA LSSENFTWSL
VNDTVKTPDN SSITVSILSS EPTSPSVTPL IVEPSGWLTT NSDSFTGFTP YQEKTTLQPT
LKFTNNSKLF PNTSDPQKEN RNTGIVFGAI LGAILGVSLL TLVGYLLCGK RKTDSFSHRR
LYDDRNEPVL RLDNAPEPYD VSFGNSSYYN PTLNDSAMPE SEENARDGIP MDDIPPLRTS
V*
mutated AA sequence MGIIQSILAT SRDCYSFKKK PIPKKPTMLA LAKILLISTL FYSLLSGSHG KENQDINTTQ
NIAEVFKTME NKPISLESEA NLNSDKENIT TSNLKASHSP PLNLPNNSHG ITDFSSNSSA
EHSLGSLKPT STISTSPPLI HSFVSKVPWN APIADEDLLP ISAHPNATPA LSSENFTWSL
VNDTVKTPDN SSITVSILSS EPTSPSVTPL IVEPSGWLTT NSDSFTGFIP YQEKTTLQPT
LKFTNNSKLF PNTSDPQKEN RNTGIVFGAI LGAILGVSLL TLVGYLLCGK RKTDSFSHRR
LYDDRNEPVL RLDNAPEPYD VSFGNSSYYN PTLNDSAMPE SEENARDGIP MDDIPPLRTS
V*
speed 0.94 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: 0.999999995787505 (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) chr11:26586801G>AN/A show variant in all transcripts   IGV
HGNC symbol MUC15
Ensembl transcript ID ENST00000527569
Genbank transcript ID N/A
UniProt peptide Q8N387
alteration type single base exchange
alteration region CDS
DNA changes c.686C>T
cDNA.833C>T
g.6980C>T
AA changes T229I Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 229
frameshift no
known variant Reference ID: rs15783
databasehomozygous (A/A)heterozygousallele carriers
1000G80112142015
ExAC24245-157238522
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.1530
0.6330.024
(flanking)2.2810.038
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased6990wt: 0.74 / mu: 0.91wt: ACTGGGTTTACCCCTTATCAAGAAAAAACAACTCTACAGCC
mu: ACTGGGTTTATCCCTTATCAAGAAAAAACAACTCTACAGCC		 tcaa|GAAA
Acc increased6982wt: 0.45 / mu: 0.57wt: ATAGCTTCACTGGGTTTACCCCTTATCAAGAAAAAACAACT
mu: ATAGCTTCACTGGGTTTATCCCTTATCAAGAAAAAACAACT		 accc|CTTA
Acc marginally increased6989wt: 0.9310 / mu: 0.9645 (marginal change - not scored)wt: CACTGGGTTTACCCCTTATCAAGAAAAAACAACTCTACAGC
mu: CACTGGGTTTATCCCTTATCAAGAAAAAACAACTCTACAGC		 atca|AGAA
Acc increased6986wt: 0.33 / mu: 0.51wt: CTTCACTGGGTTTACCCCTTATCAAGAAAAAACAACTCTAC
mu: CTTCACTGGGTTTATCCCTTATCAAGAAAAAACAACTCTAC		 ctta|TCAA
Acc increased6985wt: 0.27 / mu: 0.38wt: GCTTCACTGGGTTTACCCCTTATCAAGAAAAAACAACTCTA
mu: GCTTCACTGGGTTTATCCCTTATCAAGAAAAAACAACTCTA		 cctt|ATCA
Donor marginally increased6985wt: 0.7651 / mu: 0.7861 (marginal change - not scored)wt: CCCCTTATCAAGAAA
mu: TCCCTTATCAAGAAA		 CCTT|atca
distance from splice site 90
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      229LTTNSDSFTGFTPYQEKTTLQPTL
mutated  not conserved    229LTTNSDSFTGFIPYQEKTTLQPT
Ptroglodytes  all identical  ENSPTRG00000003450  229LTTNSDSFTGFTPYQEKTTLQPT
Mmulatta  all identical  ENSMMUG00000012926  202LTTNSDSFTGFTPYQEKTTLQPT
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000050808  199LPTNNDNFAGFTPYQEKTTLQPT
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
24236TOPO_DOMExtracellular (Potential).lost
237257TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
258334TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 936 / 936
position (AA) of stopcodon in wt / mu AA sequence 312 / 312
position of stopcodon in wt / mu cDNA 1083 / 1083
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 148 / 148
chromosome 11
strand -1
last intron/exon boundary 923
theoretical NMD boundary in CDS 725
length of CDS 936
coding sequence (CDS) position 686
cDNA position
(for ins/del: last normal base / first normal base)		 833
gDNA position
(for ins/del: last normal base / first normal base)		 6980
chromosomal position
(for ins/del: last normal base / first normal base)		 26586801
original gDNA sequence snippet TGATAGCTTCACTGGGTTTACCCCTTATCAAGAAAAAACAA
altered gDNA sequence snippet TGATAGCTTCACTGGGTTTATCCCTTATCAAGAAAAAACAA
original cDNA sequence snippet TGATAGCTTCACTGGGTTTACCCCTTATCAAGAAAAAACAA
altered cDNA sequence snippet TGATAGCTTCACTGGGTTTATCCCTTATCAAGAAAAAACAA
wildtype AA sequence MGIIQSILAT SRDCYSFKKK PIPKKPTMLA LAKILLISTL FYSLLSGSHG KENQDINTTQ
NIAEVFKTME NKPISLESEA NLNSDKENIT TSNLKASHSP PLNLPNNSHG ITDFSSNSSA
EHSLGSLKPT STISTSPPLI HSFVSKVPWN APIADEDLLP ISAHPNATPA LSSENFTWSL
VNDTVKTPDN SSITVSILSS EPTSPSVTPL IVEPSGWLTT NSDSFTGFTP YQEKTTLQPT
LKFTNNSKLF PNTSDPQKVL RLDNAPEPYD VSFGNSSYYN PTLNDSAMPE SEENARDGIP
MDDIPPLRTS V*
mutated AA sequence MGIIQSILAT SRDCYSFKKK PIPKKPTMLA LAKILLISTL FYSLLSGSHG KENQDINTTQ
NIAEVFKTME NKPISLESEA NLNSDKENIT TSNLKASHSP PLNLPNNSHG ITDFSSNSSA
EHSLGSLKPT STISTSPPLI HSFVSKVPWN APIADEDLLP ISAHPNATPA LSSENFTWSL
VNDTVKTPDN SSITVSILSS EPTSPSVTPL IVEPSGWLTT NSDSFTGFIP YQEKTTLQPT
LKFTNNSKLF PNTSDPQKVL RLDNAPEPYD VSFGNSSYYN PTLNDSAMPE SEENARDGIP
MDDIPPLRTS V*
speed 0.91 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: 0.999999995787505 (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) chr11:26586801G>AN/A show variant in all transcripts   IGV
HGNC symbol MUC15
Ensembl transcript ID ENST00000436318
Genbank transcript ID NM_001135091
UniProt peptide Q8N387
alteration type single base exchange
alteration region CDS
DNA changes c.686C>T
cDNA.820C>T
g.6980C>T
AA changes T229I Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 229
frameshift no
known variant Reference ID: rs15783
databasehomozygous (A/A)heterozygousallele carriers
1000G80112142015
ExAC24245-157238522
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.1530
0.6330.024
(flanking)2.2810.038
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased6990wt: 0.74 / mu: 0.91wt: ACTGGGTTTACCCCTTATCAAGAAAAAACAACTCTACAGCC
mu: ACTGGGTTTATCCCTTATCAAGAAAAAACAACTCTACAGCC		 tcaa|GAAA
Acc increased6982wt: 0.45 / mu: 0.57wt: ATAGCTTCACTGGGTTTACCCCTTATCAAGAAAAAACAACT
mu: ATAGCTTCACTGGGTTTATCCCTTATCAAGAAAAAACAACT		 accc|CTTA
Acc marginally increased6989wt: 0.9310 / mu: 0.9645 (marginal change - not scored)wt: CACTGGGTTTACCCCTTATCAAGAAAAAACAACTCTACAGC
mu: CACTGGGTTTATCCCTTATCAAGAAAAAACAACTCTACAGC		 atca|AGAA
Acc increased6986wt: 0.33 / mu: 0.51wt: CTTCACTGGGTTTACCCCTTATCAAGAAAAAACAACTCTAC
mu: CTTCACTGGGTTTATCCCTTATCAAGAAAAAACAACTCTAC		 ctta|TCAA
Acc increased6985wt: 0.27 / mu: 0.38wt: GCTTCACTGGGTTTACCCCTTATCAAGAAAAAACAACTCTA
mu: GCTTCACTGGGTTTATCCCTTATCAAGAAAAAACAACTCTA		 cctt|ATCA
Donor marginally increased6985wt: 0.7651 / mu: 0.7861 (marginal change - not scored)wt: CCCCTTATCAAGAAA
mu: TCCCTTATCAAGAAA		 CCTT|atca
distance from splice site 90
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      229LTTNSDSFTGFTPYQEKTTLQPTL
mutated  not conserved    229LTTNSDSFTGFIPYQEKTTLQPT
Ptroglodytes  all identical  ENSPTRG00000003450  229LTTNSDSFTGFTPYQEKTTLQPT
Mmulatta  all identical  ENSMMUG00000012926  202LTTNSDSFTGFTPYQEKTTLQPT
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000050808  199LPTNNDNFAGFTPYQEKTTLQPT
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
24236TOPO_DOMExtracellular (Potential).lost
237257TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
258334TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1086 / 1086
position (AA) of stopcodon in wt / mu AA sequence 362 / 362
position of stopcodon in wt / mu cDNA 1220 / 1220
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 135 / 135
chromosome 11
strand -1
last intron/exon boundary 1060
theoretical NMD boundary in CDS 875
length of CDS 1086
coding sequence (CDS) position 686
cDNA position
(for ins/del: last normal base / first normal base)		 820
gDNA position
(for ins/del: last normal base / first normal base)		 6980
chromosomal position
(for ins/del: last normal base / first normal base)		 26586801
original gDNA sequence snippet TGATAGCTTCACTGGGTTTACCCCTTATCAAGAAAAAACAA
altered gDNA sequence snippet TGATAGCTTCACTGGGTTTATCCCTTATCAAGAAAAAACAA
original cDNA sequence snippet TGATAGCTTCACTGGGTTTACCCCTTATCAAGAAAAAACAA
altered cDNA sequence snippet TGATAGCTTCACTGGGTTTATCCCTTATCAAGAAAAAACAA
wildtype AA sequence MGIIQSILAT SRDCYSFKKK PIPKKPTMLA LAKILLISTL FYSLLSGSHG KENQDINTTQ
NIAEVFKTME NKPISLESEA NLNSDKENIT TSNLKASHSP PLNLPNNSHG ITDFSSNSSA
EHSLGSLKPT STISTSPPLI HSFVSKVPWN APIADEDLLP ISAHPNATPA LSSENFTWSL
VNDTVKTPDN SSITVSILSS EPTSPSVTPL IVEPSGWLTT NSDSFTGFTP YQEKTTLQPT
LKFTNNSKLF PNTSDPQKEN RNTGIVFGAI LGAILGVSLL TLVGYLLCGK RKTDSFSHRR
LYDDRNEPVL RLDNAPEPYD VSFGNSSYYN PTLNDSAMPE SEENARDGIP MDDIPPLRTS
V*
mutated AA sequence MGIIQSILAT SRDCYSFKKK PIPKKPTMLA LAKILLISTL FYSLLSGSHG KENQDINTTQ
NIAEVFKTME NKPISLESEA NLNSDKENIT TSNLKASHSP PLNLPNNSHG ITDFSSNSSA
EHSLGSLKPT STISTSPPLI HSFVSKVPWN APIADEDLLP ISAHPNATPA LSSENFTWSL
VNDTVKTPDN SSITVSILSS EPTSPSVTPL IVEPSGWLTT NSDSFTGFIP YQEKTTLQPT
LKFTNNSKLF PNTSDPQKEN RNTGIVFGAI LGAILGVSLL TLVGYLLCGK RKTDSFSHRR
LYDDRNEPVL RLDNAPEPYD VSFGNSSYYN PTLNDSAMPE SEENARDGIP MDDIPPLRTS
V*
speed 0.84 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: 0.999999995787505 (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) chr11:26586801G>AN/A show variant in all transcripts   IGV
HGNC symbol MUC15
Ensembl transcript ID ENST00000281268
Genbank transcript ID NM_001135092
UniProt peptide Q8N387
alteration type single base exchange
alteration region CDS
DNA changes c.686C>T
cDNA.820C>T
g.6980C>T
AA changes T229I Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 229
frameshift no
known variant Reference ID: rs15783
databasehomozygous (A/A)heterozygousallele carriers
1000G80112142015
ExAC24245-157238522
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.1530
0.6330.024
(flanking)2.2810.038
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased6990wt: 0.74 / mu: 0.91wt: ACTGGGTTTACCCCTTATCAAGAAAAAACAACTCTACAGCC
mu: ACTGGGTTTATCCCTTATCAAGAAAAAACAACTCTACAGCC		 tcaa|GAAA
Acc increased6982wt: 0.45 / mu: 0.57wt: ATAGCTTCACTGGGTTTACCCCTTATCAAGAAAAAACAACT
mu: ATAGCTTCACTGGGTTTATCCCTTATCAAGAAAAAACAACT		 accc|CTTA
Acc marginally increased6989wt: 0.9310 / mu: 0.9645 (marginal change - not scored)wt: CACTGGGTTTACCCCTTATCAAGAAAAAACAACTCTACAGC
mu: CACTGGGTTTATCCCTTATCAAGAAAAAACAACTCTACAGC		 atca|AGAA
Acc increased6986wt: 0.33 / mu: 0.51wt: CTTCACTGGGTTTACCCCTTATCAAGAAAAAACAACTCTAC
mu: CTTCACTGGGTTTATCCCTTATCAAGAAAAAACAACTCTAC		 ctta|TCAA
Acc increased6985wt: 0.27 / mu: 0.38wt: GCTTCACTGGGTTTACCCCTTATCAAGAAAAAACAACTCTA
mu: GCTTCACTGGGTTTATCCCTTATCAAGAAAAAACAACTCTA		 cctt|ATCA
Donor marginally increased6985wt: 0.7651 / mu: 0.7861 (marginal change - not scored)wt: CCCCTTATCAAGAAA
mu: TCCCTTATCAAGAAA		 CCTT|atca
distance from splice site 90
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      229LTTNSDSFTGFTPYQEKTTLQPTL
mutated  not conserved    229LTTNSDSFTGFIPYQEKTTLQPT
Ptroglodytes  all identical  ENSPTRG00000003450  229LTTNSDSFTGFTPYQEKTTLQPT
Mmulatta  all identical  ENSMMUG00000012926  202LTTNSDSFTGFTPYQEKTTLQPT
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000050808  199LPTNNDNFAGFTPYQEKTTLQPT
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
24236TOPO_DOMExtracellular (Potential).lost
237257TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
258334TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 936 / 936
position (AA) of stopcodon in wt / mu AA sequence 312 / 312
position of stopcodon in wt / mu cDNA 1070 / 1070
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 135 / 135
chromosome 11
strand -1
last intron/exon boundary 910
theoretical NMD boundary in CDS 725
length of CDS 936
coding sequence (CDS) position 686
cDNA position
(for ins/del: last normal base / first normal base)		 820
gDNA position
(for ins/del: last normal base / first normal base)		 6980
chromosomal position
(for ins/del: last normal base / first normal base)		 26586801
original gDNA sequence snippet TGATAGCTTCACTGGGTTTACCCCTTATCAAGAAAAAACAA
altered gDNA sequence snippet TGATAGCTTCACTGGGTTTATCCCTTATCAAGAAAAAACAA
original cDNA sequence snippet TGATAGCTTCACTGGGTTTACCCCTTATCAAGAAAAAACAA
altered cDNA sequence snippet TGATAGCTTCACTGGGTTTATCCCTTATCAAGAAAAAACAA
wildtype AA sequence MGIIQSILAT SRDCYSFKKK PIPKKPTMLA LAKILLISTL FYSLLSGSHG KENQDINTTQ
NIAEVFKTME NKPISLESEA NLNSDKENIT TSNLKASHSP PLNLPNNSHG ITDFSSNSSA
EHSLGSLKPT STISTSPPLI HSFVSKVPWN APIADEDLLP ISAHPNATPA LSSENFTWSL
VNDTVKTPDN SSITVSILSS EPTSPSVTPL IVEPSGWLTT NSDSFTGFTP YQEKTTLQPT
LKFTNNSKLF PNTSDPQKVL RLDNAPEPYD VSFGNSSYYN PTLNDSAMPE SEENARDGIP
MDDIPPLRTS V*
mutated AA sequence MGIIQSILAT SRDCYSFKKK PIPKKPTMLA LAKILLISTL FYSLLSGSHG KENQDINTTQ
NIAEVFKTME NKPISLESEA NLNSDKENIT TSNLKASHSP PLNLPNNSHG ITDFSSNSSA
EHSLGSLKPT STISTSPPLI HSFVSKVPWN APIADEDLLP ISAHPNATPA LSSENFTWSL
VNDTVKTPDN SSITVSILSS EPTSPSVTPL IVEPSGWLTT NSDSFTGFIP YQEKTTLQPT
LKFTNNSKLF PNTSDPQKVL RLDNAPEPYD VSFGNSSYYN PTLNDSAMPE SEENARDGIP
MDDIPPLRTS V*
speed 0.94 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: without_aae, prob: 0.999981065288682 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • 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) chr11:26586801G>AN/A show variant in all transcripts   IGV
HGNC symbol ANO3
Ensembl transcript ID ENST00000525139
Genbank transcript ID N/A
UniProt peptide Q9BYT9
alteration type single base exchange
alteration region intron
DNA changes g.375973G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs15783
databasehomozygous (A/A)heterozygousallele carriers
1000G80112142015
ExAC24245-157238522
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.1530
0.6330.024
(flanking)2.2810.038
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased375968wt: 0.7568 / mu: 0.7586 (marginal change - not scored)wt: TAGAGTTGTTTTTTCTTGATAAGGGGTAAACCCAGTGAAGC
mu: TAGAGTTGTTTTTTCTTGATAAGGGATAAACCCAGTGAAGC		 gata|AGGG
Donor increased375971wt: 0.86 / mu: 0.97wt: ATAAGGGGTAAACCC
mu: ATAAGGGATAAACCC		 AAGG|ggta
Donor marginally increased375964wt: 0.9935 / mu: 0.9937 (marginal change - not scored)wt: TTTCTTGATAAGGGG
mu: TTTCTTGATAAGGGA		 TCTT|gata
Donor marginally increased375976wt: 0.7921 / mu: 0.8449 (marginal change - not scored)wt: GGGTAAACCCAGTGA
mu: GGATAAACCCAGTGA		 GTAA|accc
Donor gained3759690.86mu: TGATAAGGGATAAAC ATAA|ggga
distance from splice site 5475
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
425469TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
470490TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
491550TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
551571TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
572592TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
593613TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
614640TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
641661TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
662761TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
762782TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
783810TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
811831TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
832914TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
866866CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
915935TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
936981TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 124 / 124
chromosome 11
strand 1
last intron/exon boundary 2839
theoretical NMD boundary in CDS 2665
length of CDS 2898
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 375973
chromosomal position
(for ins/del: last normal base / first normal base)		 26586801
original gDNA sequence snippet TTGTTTTTTCTTGATAAGGGGTAAACCCAGTGAAGCTATCA
altered gDNA sequence snippet TTGTTTTTTCTTGATAAGGGATAAACCCAGTGAAGCTATCA
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MNISKSEITK ETSLKPSRRS LPCLAQSYAY SKSLSQSTSL FQSTESESQA PTSITLISTD
KAEQVNTEEN KNDSVLRCSF ADLSDFCLAL GKDKDYTDES EHATYDRSRL INDFVIKDKS
EFKTKLSKND MNYIASSGPL FKDGKKRIDY ILVYRKTNIQ YDKRNTFEKN LRAEGLMLEK
EPAIASPDIM FIKIHIPWDT LCKYAERLNI RMPFRKKCYY TDGRSKSMGR MQTYFRRIKN
WMAQNPMVLD KSAFPDLEES DCYTGPFSRA RIHHFIINNK DTFFSNATRS RIVYHMLERT
KYENGISKVG IRKLINNGSY IAAFPPHEGA YKSSQPIKTH GPQNNRHLLY ERWARWGMWY
KHQPLDLIRL YFGEKIGLYF AWLGWYTGML IPAAIVGLCV FFYGLFTMNN SQVSQEICKA
TEVFMCPLCD KNCSLQRLND SCIYAKVTYL FDNGGTVFFA IFMAIWATVF LEFWKRRRSI
LTYTWDLIEW EEEEETLRPQ FEAKYYKMEI VNPITGKPEP HQPSSDKVTR LLVSVSGIFF
MISLVITAVF GVVVYRLVVM EQFASFKWNF IKQYWQFATS AAAVCINFII IMLLNLAYEK
IAYLLTNLEY PRTESEWENS FALKMFLFQF VNLNSSIFYI AFFLGRFVGH PGKYNKLFDR
WRLEECHPSG CLIDLCLQMG VIMFLKQIWN NFMELGYPLI QNWWSRHKIK RGIHDASIPQ
WENDWNLQPM NLHGLMDEYL EMVLQFGFTT IFVAAFPLAP LLALLNNIIE IRLDAYKFVT
QWRRPLPARA TDIGIWLGIL EGIGILAVIT NAFVIAITSD YIPRFVYEYK YGPCANHVEP
SENCLKGYVN NSLSFFDLSE LGMGKSGYCR YRDYRGPPWS SKPYEFTLQY WHILAARLAF
IIVFEHLVFG IKSFIAYLIP DVPKGLHDRI RREKYLVQEM MYEAELEHLQ QQRRKSGQPV
HHEWP*
mutated AA sequence N/A
speed 0.57 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: without_aae, prob: 0.999981065288682 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • 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) chr11:26586801G>AN/A show variant in all transcripts   IGV
HGNC symbol ANO3
Ensembl transcript ID ENST00000256737
Genbank transcript ID NM_031418
UniProt peptide Q9BYT9
alteration type single base exchange
alteration region intron
DNA changes g.375973G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs15783
databasehomozygous (A/A)heterozygousallele carriers
1000G80112142015
ExAC24245-157238522
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.1530
0.6330.024
(flanking)2.2810.038
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased375968wt: 0.7568 / mu: 0.7586 (marginal change - not scored)wt: TAGAGTTGTTTTTTCTTGATAAGGGGTAAACCCAGTGAAGC
mu: TAGAGTTGTTTTTTCTTGATAAGGGATAAACCCAGTGAAGC		 gata|AGGG
Donor increased375971wt: 0.86 / mu: 0.97wt: ATAAGGGGTAAACCC
mu: ATAAGGGATAAACCC		 AAGG|ggta
Donor marginally increased375964wt: 0.9935 / mu: 0.9937 (marginal change - not scored)wt: TTTCTTGATAAGGGG
mu: TTTCTTGATAAGGGA		 TCTT|gata
Donor marginally increased375976wt: 0.7921 / mu: 0.8449 (marginal change - not scored)wt: GGGTAAACCCAGTGA
mu: GGATAAACCCAGTGA		 GTAA|accc
Donor gained3759690.86mu: TGATAAGGGATAAAC ATAA|ggga
distance from splice site 5475
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
470490TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
491550TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
551571TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
572592TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
593613TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
614640TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
641661TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
662761TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
762782TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
783810TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
811831TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
832914TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
866866CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
915935TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
936981TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 853 / 853
chromosome 11
strand 1
last intron/exon boundary 3616
theoretical NMD boundary in CDS 2713
length of CDS 2946
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 375973
chromosomal position
(for ins/del: last normal base / first normal base)		 26586801
original gDNA sequence snippet TTGTTTTTTCTTGATAAGGGGTAAACCCAGTGAAGCTATCA
altered gDNA sequence snippet TTGTTTTTTCTTGATAAGGGATAAACCCAGTGAAGCTATCA
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MVHHSGSIQS FKQQKGMNIS KSEITKETSL KPSRRSLPCL AQSYAYSKSL SQSTSLFQST
ESESQAPTSI TLISTDKAEQ VNTEENKNDS VLRCSFADLS DFCLALGKDK DYTDESEHAT
YDRSRLINDF VIKDKSEFKT KLSKNDMNYI ASSGPLFKDG KKRIDYILVY RKTNIQYDKR
NTFEKNLRAE GLMLEKEPAI ASPDIMFIKI HIPWDTLCKY AERLNIRMPF RKKCYYTDGR
SKSMGRMQTY FRRIKNWMAQ NPMVLDKSAF PDLEESDCYT GPFSRARIHH FIINNKDTFF
SNATRSRIVY HMLERTKYEN GISKVGIRKL INNGSYIAAF PPHEGAYKSS QPIKTHGPQN
NRHLLYERWA RWGMWYKHQP LDLIRLYFGE KIGLYFAWLG WYTGMLIPAA IVGLCVFFYG
LFTMNNSQVS QEICKATEVF MCPLCDKNCS LQRLNDSCIY AKVTYLFDNG GTVFFAIFMA
IWATVFLEFW KRRRSILTYT WDLIEWEEEE ETLRPQFEAK YYKMEIVNPI TGKPEPHQPS
SDKVTRLLVS VSGIFFMISL VITAVFGVVV YRLVVMEQFA SFKWNFIKQY WQFATSAAAV
CINFIIIMLL NLAYEKIAYL LTNLEYPRTE SEWENSFALK MFLFQFVNLN SSIFYIAFFL
GRFVGHPGKY NKLFDRWRLE ECHPSGCLID LCLQMGVIMF LKQIWNNFME LGYPLIQNWW
SRHKIKRGIH DASIPQWEND WNLQPMNLHG LMDEYLEMVL QFGFTTIFVA AFPLAPLLAL
LNNIIEIRLD AYKFVTQWRR PLPARATDIG IWLGILEGIG ILAVITNAFV IAITSDYIPR
FVYEYKYGPC ANHVEPSENC LKGYVNNSLS FFDLSELGMG KSGYCRYRDY RGPPWSSKPY
EFTLQYWHIL AARLAFIIVF EHLVFGIKSF IAYLIPDVPK GLHDRIRREK YLVQEMMYEA
ELEHLQQQRR KSGQPVHHEW P*
mutated AA sequence N/A
speed 0.67 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: without_aae, prob: 0.999981065288682 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • 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) chr11:26586801G>AN/A show variant in all transcripts   IGV
HGNC symbol ANO3
Ensembl transcript ID ENST00000531568
Genbank transcript ID N/A
UniProt peptide Q9BYT9
alteration type single base exchange
alteration region intron
DNA changes g.375973G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs15783
databasehomozygous (A/A)heterozygousallele carriers
1000G80112142015
ExAC24245-157238522
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.1530
0.6330.024
(flanking)2.2810.038
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased375968wt: 0.7568 / mu: 0.7586 (marginal change - not scored)wt: TAGAGTTGTTTTTTCTTGATAAGGGGTAAACCCAGTGAAGC
mu: TAGAGTTGTTTTTTCTTGATAAGGGATAAACCCAGTGAAGC		 gata|AGGG
Donor increased375971wt: 0.86 / mu: 0.97wt: ATAAGGGGTAAACCC
mu: ATAAGGGATAAACCC		 AAGG|ggta
Donor marginally increased375964wt: 0.9935 / mu: 0.9937 (marginal change - not scored)wt: TTTCTTGATAAGGGG
mu: TTTCTTGATAAGGGA		 TCTT|gata
Donor marginally increased375976wt: 0.7921 / mu: 0.8449 (marginal change - not scored)wt: GGGTAAACCCAGTGA
mu: GGATAAACCCAGTGA		 GTAA|accc
Donor gained3759690.86mu: TGATAAGGGATAAAC ATAA|ggga
distance from splice site 5475
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
1403TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
404424TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
425425CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
425469TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
448448CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
455455CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
470490TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
491550TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
551571TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
572592TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
593613TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
614640TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
641661TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
662761TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
762782TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
783810TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
811831TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
832914TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
866866CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
915935TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
936981TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 234 / 234
chromosome 11
strand 1
last intron/exon boundary 2559
theoretical NMD boundary in CDS 2275
length of CDS 2508
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 375973
chromosomal position
(for ins/del: last normal base / first normal base)		 26586801
original gDNA sequence snippet TTGTTTTTTCTTGATAAGGGGTAAACCCAGTGAAGCTATCA
altered gDNA sequence snippet TTGTTTTTTCTTGATAAGGGATAAACCCAGTGAAGCTATCA
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MNYIASSGPL FKDGKKRIDY ILVYRKTNIQ YDKRNTFEKN LRAEGLMLEK EPAIASPDIM
FIKIHIPWDT LCKYAERLNI RMPFRKKCYY TDGRSKSMGR MQTYFRRIKN WMAQNPMVLD
KSAFPDLEES DCYTGPFSRA RIHHFIINNK DTFFSNATRS RIVYHMLERT KYENGISKVG
IRKLINNGSY IAAFPPHEGA YKSSQPIKTH GPQNNRHLLY ERWARWGMWY KHQPLDLIRL
YFGEKIGLYF AWLGWYTGML IPAAIVGLCV FFYGLFTMNN SQVSQEICKA TEVFMCPLCD
KNCSLQRLND SCIYAKVTYL FDNGGTVFFA IFMAIWATVF LEFWKRRRSI LTYTWDLIEW
EEEEETLRPQ FEAKYYKMEI VNPITGKPEP HQPSSDKVTR LLVSVSGIFF MISLVITAVF
GVVVYRLVVM EQFASFKWNF IKQYWQFATS AAAVCINFII IMLLNLAYEK IAYLLTNLEY
PRTESEWENS FALKMFLFQF VNLNSSIFYI AFFLGRFVGH PGKYNKLFDR WRLEECHPSG
CLIDLCLQMG VIMFLKQIWN NFMELGYPLI QNWWSRHKIK RGIHDASIPQ WENDWNLQPM
NLHGLMDEYL EMVLQFGFTT IFVAAFPLAP LLALLNNIIE IRLDAYKFVT QWRRPLPARA
TDIGIWLGIL EGIGILAVIT NAFVIAITSD YIPRFVYEYK YGPCANHVEP SENCLKGYVN
NSLSFFDLSE LGMGKSGYCR YRDYRGPPWS SKPYEFTLQY WHILAARLAF IIVFEHLVFG
IKSFIAYLIP DVPKGLHDRI RREKYLVQEM MYEAELEHLQ QQRRKSGQPV HHEWP*
mutated AA sequence N/A
speed 0.69 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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Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999981065288682 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • 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) chr11:26586801G>AN/A show variant in all transcripts   IGV
HGNC symbol ANO3
Ensembl transcript ID ENST00000537978
Genbank transcript ID N/A
UniProt peptide Q9BYT9
alteration type single base exchange
alteration region intron
DNA changes g.375973G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs15783
databasehomozygous (A/A)heterozygousallele carriers
1000G80112142015
ExAC24245-157238522
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.1530
0.6330.024
(flanking)2.2810.038
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased375968wt: 0.7568 / mu: 0.7586 (marginal change - not scored)wt: TAGAGTTGTTTTTTCTTGATAAGGGGTAAACCCAGTGAAGC
mu: TAGAGTTGTTTTTTCTTGATAAGGGATAAACCCAGTGAAGC		 gata|AGGG
Donor increased375971wt: 0.86 / mu: 0.97wt: ATAAGGGGTAAACCC
mu: ATAAGGGATAAACCC		 AAGG|ggta
Donor marginally increased375964wt: 0.9935 / mu: 0.9937 (marginal change - not scored)wt: TTTCTTGATAAGGGG
mu: TTTCTTGATAAGGGA		 TCTT|gata
Donor marginally increased375976wt: 0.7921 / mu: 0.8449 (marginal change - not scored)wt: GGGTAAACCCAGTGA
mu: GGATAAACCCAGTGA		 GTAA|accc
Donor gained3759690.86mu: TGATAAGGGATAAAC ATAA|ggga
distance from splice site 5475
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
425469TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
470490TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
491550TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
551571TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
572592TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
593613TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
614640TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
641661TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
662761TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
762782TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
783810TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
811831TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
832914TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
866866CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
915935TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
936981TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 127 / 127
chromosome 11
strand 1
last intron/exon boundary 2842
theoretical NMD boundary in CDS 2665
length of CDS 2898
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 375973
chromosomal position
(for ins/del: last normal base / first normal base)		 26586801
original gDNA sequence snippet TTGTTTTTTCTTGATAAGGGGTAAACCCAGTGAAGCTATCA
altered gDNA sequence snippet TTGTTTTTTCTTGATAAGGGATAAACCCAGTGAAGCTATCA
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MNISKSEITK ETSLKPSRRS LPCLAQSYAY SKSLSQSTSL FQSTESESQA PTSITLISTD
KAEQVNTEEN KNDSVLRCSF ADLSDFCLAL GKDKDYTDES EHATYDRSRL INDFVIKDKS
EFKTKLSKND MNYIASSGPL FKDGKKRIDY ILVYRKTNIQ YDKRNTFEKN LRAEGLMLEK
EPAIASPDIM FIKIHIPWDT LCKYAERLNI RMPFRKKCYY TDGRSKSMGR MQTYFRRIKN
WMAQNPMVLD KSAFPDLEES DCYTGPFSRA RIHHFIINNK DTFFSNATRS RIVYHMLERT
KYENGISKVG IRKLINNGSY IAAFPPHEGA YKSSQPIKTH GPQNNRHLLY ERWARWGMWY
KHQPLDLIRL YFGEKIGLYF AWLGWYTGML IPAAIVGLCV FFYGLFTMNN SQVSQEICKA
TEVFMCPLCD KNCSLQRLND SCIYAKVTYL FDNGGTVFFA IFMAIWATVF LEFWKRRRSI
LTYTWDLIEW EEEEETLRPQ FEAKYYKMEI VNPITGKPEP HQPSSDKVTR LLVSVSGIFF
MISLVITAVF GVVVYRLVVM EQFASFKWNF IKQYWQFATS AAAVCINFII IMLLNLAYEK
IAYLLTNLEY PRTESEWENS FALKMFLFQF VNLNSSIFYI AFFLGRFVGH PGKYNKLFDR
WRLEECHPSG CLIDLCLQMG VIMFLKQIWN NFMELGYPLI QNWWSRHKIK RGIHDASIPQ
WENDWNLQPM NLHGLMDEYL EMVLQFGFTT IFVAAFPLAP LLALLNNIIE IRLDAYKFVT
QWRRPLPARA TDIGIWLGIL EGIGILAVIT NAFVIAITSD YIPRFVYEYK YGPCANHVEP
SENCLKGYVN NSLSFFDLSE LGMGKSGYCR YRDYRGPPWS SKPYEFTLQY WHILAARLAF
IIVFEHLVFG IKSFIAYLIP DVPKGLHDRI RREKYLVQEM MYEAELEHLQ QQRRKSGQPV
HHEWP*
mutated AA sequence N/A
speed 0.64 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