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 4 transcript(s)...
Querying Taster for transcript #1: ENST00000406846
Querying Taster for transcript #2: ENST00000304421
Querying Taster for transcript #3: ENST00000346173
Querying Taster for transcript #4: ENST00000541117
MT speed 4.97 s - this script 7.123251 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
FSHRpolymorphism_automatic7.08433800511443e-09simple_aaeA307Tsingle base exchangers6165show file
FSHRpolymorphism_automatic7.08433800511443e-09simple_aaeA281Tsingle base exchangers6165show file
FSHRpolymorphism_automatic1.17642400265794e-08simple_aaeA43Tsingle base exchangers6165show file
FSHRpolymorphism_automatic4.33390650034227e-08simple_aaeA245Tsingle base exchangers6165show file

Taster files

Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999992915662 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM062747)
  • protein features (might be) affected
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:49191041C>TN/A show variant in all transcripts   IGV
HGNC symbol FSHR
Ensembl transcript ID ENST00000406846
Genbank transcript ID NM_000145
UniProt peptide P23945
alteration type single base exchange
alteration region CDS
DNA changes c.919G>A
cDNA.1039G>A
g.190636G>A
AA changes A307T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS
307
frameshift no
known variant Reference ID: rs6165
databasehomozygous (T/T)heterozygousallele carriers
1000G65211611813
ExAC18755-474314012

known disease mutation at this position, please check HGMD for details (HGMD ID CM062747)
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1240.076
0.5250.141
(flanking)0.3390.286
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased190634wt: 0.9375 / mu: 0.9799 (marginal change - not scored)wt: GACTCAGGCTAGGGG
mu: GACTCAGACTAGGGG
 CTCA|ggct
distance from splice site 65
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      307ILRQEVDYMTQARGQRSSLAEDNE
mutated  not conserved    307VDYMTQTRGQRSSLAEDN
Ptroglodytes  all identical  ENSPTRG00000011914  307VDYMTQARGQRASLAEDN
Mmulatta  all identical  ENSMMUG00000017196  307VDYMTQARGRRASLAEDN
Fcatus  all identical  ENSFCAG00000001215  307VDDMTQARGQRVSLAEDE
Mmusculus  not conserved  ENSMUSG00000032937  307IDDMTQPGDQRVSLVDD-
Ggallus  not conserved  ENSGALG00000009100  307LGEQTGKRKHRRSAAEDY
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000071494  315GAHEEPDFFN-------------
Dmelanogaster  not conserved  FBgn0016650  390IEKWRKQCKSDSGTRKERSTL--D
Celegans  not conserved  C50H2.1  343---REQQKVARRRKRETSGIDF
Xtropicalis  not conserved  ENSXETG00000025827  207YESQPEDLKSLNKRSAQVDPILSNG
protein features
start (aa)end (aa)featuredetails 
18366TOPO_DOMExtracellular (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2088 / 2088
position (AA) of stopcodon in wt / mu AA sequence 696 / 696
position of stopcodon in wt / mu cDNA 2208 / 2208
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 121 / 121
chromosome 2
strand -1
last intron/exon boundary 975
theoretical NMD boundary in CDS 804
length of CDS 2088
coding sequence (CDS) position 919
cDNA position
(for ins/del: last normal base / first normal base)
1039
gDNA position
(for ins/del: last normal base / first normal base)
190636
chromosomal position
(for ins/del: last normal base / first normal base)
49191041
original gDNA sequence snippet AAGTTGATTATATGACTCAGGCTAGGGGTCAGAGATCCTCT
altered gDNA sequence snippet AAGTTGATTATATGACTCAGACTAGGGGTCAGAGATCCTCT
original cDNA sequence snippet AAGTTGATTATATGACTCAGGCTAGGGGTCAGAGATCCTCT
altered cDNA sequence snippet AAGTTGATTATATGACTCAGACTAGGGGTCAGAGATCCTCT
wildtype AA sequence MALLLVSLLA FLSLGSGCHH RICHCSNRVF LCQESKVTEI PSDLPRNAIE LRFVLTKLRV
IQKGAFSGFG DLEKIEISQN DVLEVIEADV FSNLPKLHEI RIEKANNLLY INPEAFQNLP
NLQYLLISNT GIKHLPDVHK IHSLQKVLLD IQDNINIHTI ERNSFVGLSF ESVILWLNKN
GIQEIHNCAF NGTQLDELNL SDNNNLEELP NDVFHGASGP VILDISRTRI HSLPSYGLEN
LKKLRARSTY NLKKLPTLEK LVALMEASLT YPSHCCAFAN WRRQISELHP ICNKSILRQE
VDYMTQARGQ RSSLAEDNES SYSRGFDMTY TEFDYDLCNE VVDVTCSPKP DAFNPCEDIM
GYNILRVLIW FISILAITGN IIVLVILTTS QYKLTVPRFL MCNLAFADLC IGIYLLLIAS
VDIHTKSQYH NYAIDWQTGA GCDAAGFFTV FASELSVYTL TAITLERWHT ITHAMQLDCK
VQLRHAASVM VMGWIFAFAA ALFPIFGISS YMKVSICLPM DIDSPLSQLY VMSLLVLNVL
AFVVICGCYI HIYLTVRNPN IVSSSSDTRI AKRMAMLIFT DFLCMAPISF FAISASLKVP
LITVSKAKIL LVLFHPINSC ANPFLYAIFT KNFRRDFFIL LSKCGCYEMQ AQIYRTETSS
TVHNTHPRNG HCSSAPRVTS GSTYILVPLS HLAQN*
mutated AA sequence MALLLVSLLA FLSLGSGCHH RICHCSNRVF LCQESKVTEI PSDLPRNAIE LRFVLTKLRV
IQKGAFSGFG DLEKIEISQN DVLEVIEADV FSNLPKLHEI RIEKANNLLY INPEAFQNLP
NLQYLLISNT GIKHLPDVHK IHSLQKVLLD IQDNINIHTI ERNSFVGLSF ESVILWLNKN
GIQEIHNCAF NGTQLDELNL SDNNNLEELP NDVFHGASGP VILDISRTRI HSLPSYGLEN
LKKLRARSTY NLKKLPTLEK LVALMEASLT YPSHCCAFAN WRRQISELHP ICNKSILRQE
VDYMTQTRGQ RSSLAEDNES SYSRGFDMTY TEFDYDLCNE VVDVTCSPKP DAFNPCEDIM
GYNILRVLIW FISILAITGN IIVLVILTTS QYKLTVPRFL MCNLAFADLC IGIYLLLIAS
VDIHTKSQYH NYAIDWQTGA GCDAAGFFTV FASELSVYTL TAITLERWHT ITHAMQLDCK
VQLRHAASVM VMGWIFAFAA ALFPIFGISS YMKVSICLPM DIDSPLSQLY VMSLLVLNVL
AFVVICGCYI HIYLTVRNPN IVSSSSDTRI AKRMAMLIFT DFLCMAPISF FAISASLKVP
LITVSKAKIL LVLFHPINSC ANPFLYAIFT KNFRRDFFIL LSKCGCYEMQ AQIYRTETSS
TVHNTHPRNG HCSSAPRVTS GSTYILVPLS HLAQN*
speed 1.10 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: 0.999999992915662 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM062747)
  • protein features (might be) affected
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:49191041C>TN/A show variant in all transcripts   IGV
HGNC symbol FSHR
Ensembl transcript ID ENST00000304421
Genbank transcript ID NM_181446
UniProt peptide P23945
alteration type single base exchange
alteration region CDS
DNA changes c.841G>A
cDNA.905G>A
g.190636G>A
AA changes A281T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS
281
frameshift no
known variant Reference ID: rs6165
databasehomozygous (T/T)heterozygousallele carriers
1000G65211611813
ExAC18755-474314012

known disease mutation at this position, please check HGMD for details (HGMD ID CM062747)
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1240.076
0.5250.141
(flanking)0.3390.286
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased190634wt: 0.9375 / mu: 0.9799 (marginal change - not scored)wt: GACTCAGGCTAGGGG
mu: GACTCAGACTAGGGG
 CTCA|ggct
distance from splice site 65
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      281ILRQEVDYMTQARGQRSSLAEDNE
mutated  not conserved    281ILRQEVDYMTQTRGQRSSLAEDN
Ptroglodytes  all identical  ENSPTRG00000011914  307VDYMTQARGQRASLAEDN
Mmulatta  all identical  ENSMMUG00000017196  307VDYMTQARGRRASLAEDN
Fcatus  all identical  ENSFCAG00000001215  307VDDMTQARGQRVSLAEDE
Mmusculus  not conserved  ENSMUSG00000032937  307IDDMTQPGDQRVSLVDD-
Ggallus  not conserved  ENSGALG00000009100  307LGEQTGKRKHRRSAAEDY
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000071494  315GAHEEPDFFN-------------
Dmelanogaster  not conserved  FBgn0016650  390IEKWRKQCKSDSGTRKERSTL--DN
Celegans  not conserved  C50H2.1  343---REQQKVARRRKRETSGIDFLDM
Xtropicalis  not conserved  ENSXETG00000025827  207YESQPEDLKSLNKRSAQVDPILSNG
protein features
start (aa)end (aa)featuredetails 
18366TOPO_DOMExtracellular (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2010 / 2010
position (AA) of stopcodon in wt / mu AA sequence 670 / 670
position of stopcodon in wt / mu cDNA 2074 / 2074
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 65 / 65
chromosome 2
strand -1
last intron/exon boundary 841
theoretical NMD boundary in CDS 726
length of CDS 2010
coding sequence (CDS) position 841
cDNA position
(for ins/del: last normal base / first normal base)
905
gDNA position
(for ins/del: last normal base / first normal base)
190636
chromosomal position
(for ins/del: last normal base / first normal base)
49191041
original gDNA sequence snippet AAGTTGATTATATGACTCAGGCTAGGGGTCAGAGATCCTCT
altered gDNA sequence snippet AAGTTGATTATATGACTCAGACTAGGGGTCAGAGATCCTCT
original cDNA sequence snippet AAGTTGATTATATGACTCAGGCTAGGGGTCAGAGATCCTCT
altered cDNA sequence snippet AAGTTGATTATATGACTCAGACTAGGGGTCAGAGATCCTCT
wildtype AA sequence MALLLVSLLA FLSLGSGCHH RICHCSNRVF LCQESKVTEI PSDLPRNAIE LRFVLTKLRV
IQKGAFSGFG DLEKIEISQN DVLEVIEADV FSNLPKLHEI RIEKANNLLY INPEAFQNLP
NLQYLLISNT GIKHLPDVHK IHSLQKVLLW LNKNGIQEIH NCAFNGTQLD ELNLSDNNNL
EELPNDVFHG ASGPVILDIS RTRIHSLPSY GLENLKKLRA RSTYNLKKLP TLEKLVALME
ASLTYPSHCC AFANWRRQIS ELHPICNKSI LRQEVDYMTQ ARGQRSSLAE DNESSYSRGF
DMTYTEFDYD LCNEVVDVTC SPKPDAFNPC EDIMGYNILR VLIWFISILA ITGNIIVLVI
LTTSQYKLTV PRFLMCNLAF ADLCIGIYLL LIASVDIHTK SQYHNYAIDW QTGAGCDAAG
FFTVFASELS VYTLTAITLE RWHTITHAMQ LDCKVQLRHA ASVMVMGWIF AFAAALFPIF
GISSYMKVSI CLPMDIDSPL SQLYVMSLLV LNVLAFVVIC GCYIHIYLTV RNPNIVSSSS
DTRIAKRMAM LIFTDFLCMA PISFFAISAS LKVPLITVSK AKILLVLFHP INSCANPFLY
AIFTKNFRRD FFILLSKCGC YEMQAQIYRT ETSSTVHNTH PRNGHCSSAP RVTSGSTYIL
VPLSHLAQN*
mutated AA sequence MALLLVSLLA FLSLGSGCHH RICHCSNRVF LCQESKVTEI PSDLPRNAIE LRFVLTKLRV
IQKGAFSGFG DLEKIEISQN DVLEVIEADV FSNLPKLHEI RIEKANNLLY INPEAFQNLP
NLQYLLISNT GIKHLPDVHK IHSLQKVLLW LNKNGIQEIH NCAFNGTQLD ELNLSDNNNL
EELPNDVFHG ASGPVILDIS RTRIHSLPSY GLENLKKLRA RSTYNLKKLP TLEKLVALME
ASLTYPSHCC AFANWRRQIS ELHPICNKSI LRQEVDYMTQ TRGQRSSLAE DNESSYSRGF
DMTYTEFDYD LCNEVVDVTC SPKPDAFNPC EDIMGYNILR VLIWFISILA ITGNIIVLVI
LTTSQYKLTV PRFLMCNLAF ADLCIGIYLL LIASVDIHTK SQYHNYAIDW QTGAGCDAAG
FFTVFASELS VYTLTAITLE RWHTITHAMQ LDCKVQLRHA ASVMVMGWIF AFAAALFPIF
GISSYMKVSI CLPMDIDSPL SQLYVMSLLV LNVLAFVVIC GCYIHIYLTV RNPNIVSSSS
DTRIAKRMAM LIFTDFLCMA PISFFAISAS LKVPLITVSK AKILLVLFHP INSCANPFLY
AIFTKNFRRD FFILLSKCGC YEMQAQIYRT ETSSTVHNTH PRNGHCSSAP RVTSGSTYIL
VPLSHLAQN*
speed 1.46 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: 0.99999998823576 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM062747)
  • protein features (might be) affected
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:49191041C>TN/A show variant in all transcripts   IGV
HGNC symbol FSHR
Ensembl transcript ID ENST00000541117
Genbank transcript ID N/A
UniProt peptide P23945
alteration type single base exchange
alteration region CDS
DNA changes c.127G>A
cDNA.680G>A
g.190636G>A
AA changes A43T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS
43
frameshift no
known variant Reference ID: rs6165
databasehomozygous (T/T)heterozygousallele carriers
1000G65211611813
ExAC18755-474314012

known disease mutation at this position, please check HGMD for details (HGMD ID CM062747)
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1240.076
0.5250.141
(flanking)0.3390.286
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased190634wt: 0.9375 / mu: 0.9799 (marginal change - not scored)wt: GACTCAGGCTAGGGG
mu: GACTCAGACTAGGGG
 CTCA|ggct
distance from splice site 65
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      43ILRQEVDYMTQARGQRSSLAEDNE
mutated  not conserved    43ILRQEVDYMTQTRGQRSSLAEDN
Ptroglodytes  all identical  ENSPTRG00000011914  307ILRQEVDYMTQARGQRASLAEDN
Mmulatta  all identical  ENSMMUG00000017196  307ILRQEVDYMTQARGRRASLAEDN
Fcatus  all identical  ENSFCAG00000001215  307ILRQEVDDMTQARGQRVSLAEDE
Mmusculus  not conserved  ENSMUSG00000032937  307ISRQDIDDMTQPGDQRVSLVDD-
Ggallus  not conserved  ENSGALG00000009100  307PAKQDLGEQTGKRKHRRSAAEDY
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000071494  315GAHEEPDFFN-------------
Dmelanogaster  not conserved  FBgn0016650  390IEKWRKQCKSDSGTRKERSTL--DN
Celegans  not conserved  C50H2.1  343---REQQKVARRRKRETSG
Xtropicalis  not conserved  ENSXETG00000025827  207YESQPEDLKSLNKRSAQVDPILSNG
protein features
start (aa)end (aa)featuredetails 
1846DOMAINLRRNT.lost
18366TOPO_DOMExtracellular (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1296 / 1296
position (AA) of stopcodon in wt / mu AA sequence 432 / 432
position of stopcodon in wt / mu cDNA 1849 / 1849
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 554 / 554
chromosome 2
strand -1
last intron/exon boundary 616
theoretical NMD boundary in CDS 12
length of CDS 1296
coding sequence (CDS) position 127
cDNA position
(for ins/del: last normal base / first normal base)
680
gDNA position
(for ins/del: last normal base / first normal base)
190636
chromosomal position
(for ins/del: last normal base / first normal base)
49191041
original gDNA sequence snippet AAGTTGATTATATGACTCAGGCTAGGGGTCAGAGATCCTCT
altered gDNA sequence snippet AAGTTGATTATATGACTCAGACTAGGGGTCAGAGATCCTCT
original cDNA sequence snippet AAGTTGATTATATGACTCAGGCTAGGGGTCAGAGATCCTCT
altered cDNA sequence snippet AAGTTGATTATATGACTCAGACTAGGGGTCAGAGATCCTCT
wildtype AA sequence MEASLTYPSH CCAFANWRRQ ISELHPICNK SILRQEVDYM TQARGQRSSL AEDNESSYSR
GFDMTYTEFD YDLCNEVVDV TCSPKPDAFN PCEDIMGYNI LRVLIWFISI LAITGNIIVL
VILTTSQYKL TVPRFLMCNL AFADLCIGIY LLLIASVDIH TKSQYHNYAI DWQTGAGCDA
AGFFTVFASE LSVYTLTAIT LERWHTITHA MQLDCKVQLR HAASVMVMGW IFAFAAALFP
IFGISSYMKV SICLPMDIDS PLSQLYVMSL LVLNVLAFVV ICGCYIHIYL TVRNPNIVSS
SSDTRIAKRM AMLIFTDFLC MAPISFFAIS ASLKVPLITV SKAKILLVLF HPINSCANPF
LYAIFTKNFR RDFFILLSKC GCYEMQAQIY RTETSSTVHN THPRNGHCSS APRVTSGSTY
ILVPLSHLAQ N*
mutated AA sequence MEASLTYPSH CCAFANWRRQ ISELHPICNK SILRQEVDYM TQTRGQRSSL AEDNESSYSR
GFDMTYTEFD YDLCNEVVDV TCSPKPDAFN PCEDIMGYNI LRVLIWFISI LAITGNIIVL
VILTTSQYKL TVPRFLMCNL AFADLCIGIY LLLIASVDIH TKSQYHNYAI DWQTGAGCDA
AGFFTVFASE LSVYTLTAIT LERWHTITHA MQLDCKVQLR HAASVMVMGW IFAFAAALFP
IFGISSYMKV SICLPMDIDS PLSQLYVMSL LVLNVLAFVV ICGCYIHIYL TVRNPNIVSS
SSDTRIAKRM AMLIFTDFLC MAPISFFAIS ASLKVPLITV SKAKILLVLF HPINSCANPF
LYAIFTKNFR RDFFILLSKC GCYEMQAQIY RTETSSTVHN THPRNGHCSS APRVTSGSTY
ILVPLSHLAQ N*
speed 1.05 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: 0.999999956660935 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM062747)
  • protein features (might be) affected
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:49191041C>TN/A show variant in all transcripts   IGV
HGNC symbol FSHR
Ensembl transcript ID ENST00000346173
Genbank transcript ID N/A
UniProt peptide P23945
alteration type single base exchange
alteration region CDS
DNA changes c.733G>A
cDNA.843G>A
g.190636G>A
AA changes A245T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS
245
frameshift no
known variant Reference ID: rs6165
databasehomozygous (T/T)heterozygousallele carriers
1000G65211611813
ExAC18755-474314012

known disease mutation at this position, please check HGMD for details (HGMD ID CM062747)
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1240.076
0.5250.141
(flanking)0.3390.286
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased190634wt: 0.9375 / mu: 0.9799 (marginal change - not scored)wt: GACTCAGGCTAGGGG
mu: GACTCAGACTAGGGG
 CTCA|ggct
distance from splice site 65
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      245ILRQEVDYMTQARGQRSSLAEDNE
mutated  not conserved    245YMTQTRGQRSSLAEDN
Ptroglodytes  all identical  ENSPTRG00000011914  307VDYMTQARGQRASLAEDN
Mmulatta  all identical  ENSMMUG00000017196  307VDYMTQARGRRASLAEDN
Fcatus  all identical  ENSFCAG00000001215  307VDDMTQARGQRVSLAEDE
Mmusculus  not conserved  ENSMUSG00000032937  307IDDMTQPGDQRVSLVDD-
Ggallus  not conserved  ENSGALG00000009100  307DLGEQTGKRKHRRSAAEDY
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000071494  275LTQANLTYPSHCCAFKNFKKHKSVKN
Dmelanogaster  not conserved  FBgn0016650  444FDYMADDTMNKGTFHEKIILNPG
Celegans  not conserved  C50H2.1  367---REQQKVARRRKRETSGID
Xtropicalis  not conserved  ENSXETG00000025827  207YESQPEDLKSLNKRSAQVDPILSNG
protein features
start (aa)end (aa)featuredetails 
18366TOPO_DOMExtracellular (Potential).lost
241259REPEATLRR 9.lost
243245STRANDlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1902 / 1902
position (AA) of stopcodon in wt / mu AA sequence 634 / 634
position of stopcodon in wt / mu cDNA 2012 / 2012
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 111 / 111
chromosome 2
strand -1
last intron/exon boundary 779
theoretical NMD boundary in CDS 618
length of CDS 1902
coding sequence (CDS) position 733
cDNA position
(for ins/del: last normal base / first normal base)
843
gDNA position
(for ins/del: last normal base / first normal base)
190636
chromosomal position
(for ins/del: last normal base / first normal base)
49191041
original gDNA sequence snippet AAGTTGATTATATGACTCAGGCTAGGGGTCAGAGATCCTCT
altered gDNA sequence snippet AAGTTGATTATATGACTCAGACTAGGGGTCAGAGATCCTCT
original cDNA sequence snippet AAGTTGATTATATGACTCAGGCTAGGGGTCAGAGATCCTCT
altered cDNA sequence snippet AAGTTGATTATATGACTCAGACTAGGGGTCAGAGATCCTCT
wildtype AA sequence MALLLVSLLA FLSLGSGCHH RICHCSNRVF LCQESKVTEI PSDLPRNAIE LRFVLTKLRV
IQKGAFSGFG DLEKIEISQN DVLEVIEADV FSNLPKLHEI RIEKANNLLY INPEAFQNLP
NLQYLLISNT GIKHLPDVHK IHSLQKVLLD IQDNINIHTI ERNSFVGLSF ESVILWLNKN
GIQEIHNCAF NGTQLDELNL SDNNNLEELP NDVFHGASGP VILSELHPIC NKSILRQEVD
YMTQARGQRS SLAEDNESSY SRGFDMTYTE FDYDLCNEVV DVTCSPKPDA FNPCEDIMGY
NILRVLIWFI SILAITGNII VLVILTTSQY KLTVPRFLMC NLAFADLCIG IYLLLIASVD
IHTKSQYHNY AIDWQTGAGC DAAGFFTVFA SELSVYTLTA ITLERWHTIT HAMQLDCKVQ
LRHAASVMVM GWIFAFAAAL FPIFGISSYM KVSICLPMDI DSPLSQLYVM SLLVLNVLAF
VVICGCYIHI YLTVRNPNIV SSSSDTRIAK RMAMLIFTDF LCMAPISFFA ISASLKVPLI
TVSKAKILLV LFHPINSCAN PFLYAIFTKN FRRDFFILLS KCGCYEMQAQ IYRTETSSTV
HNTHPRNGHC SSAPRVTSGS TYILVPLSHL AQN*
mutated AA sequence MALLLVSLLA FLSLGSGCHH RICHCSNRVF LCQESKVTEI PSDLPRNAIE LRFVLTKLRV
IQKGAFSGFG DLEKIEISQN DVLEVIEADV FSNLPKLHEI RIEKANNLLY INPEAFQNLP
NLQYLLISNT GIKHLPDVHK IHSLQKVLLD IQDNINIHTI ERNSFVGLSF ESVILWLNKN
GIQEIHNCAF NGTQLDELNL SDNNNLEELP NDVFHGASGP VILSELHPIC NKSILRQEVD
YMTQTRGQRS SLAEDNESSY SRGFDMTYTE FDYDLCNEVV DVTCSPKPDA FNPCEDIMGY
NILRVLIWFI SILAITGNII VLVILTTSQY KLTVPRFLMC NLAFADLCIG IYLLLIASVD
IHTKSQYHNY AIDWQTGAGC DAAGFFTVFA SELSVYTLTA ITLERWHTIT HAMQLDCKVQ
LRHAASVMVM GWIFAFAAAL FPIFGISSYM KVSICLPMDI DSPLSQLYVM SLLVLNVLAF
VVICGCYIHI YLTVRNPNIV SSSSDTRIAK RMAMLIFTDF LCMAPISFFA ISASLKVPLI
TVSKAKILLV LFHPINSCAN PFLYAIFTKN FRRDFFILLS KCGCYEMQAQ IYRTETSSTV
HNTHPRNGHC SSAPRVTSGS TYILVPLSHL AQN*
speed 1.36 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