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 6 transcript(s)...
Querying Taster for transcript #1: ENST00000481110
Querying Taster for transcript #2: ENST00000260795
Querying Taster for transcript #3: ENST00000352904
Querying Taster for transcript #4: ENST00000340107
Querying Taster for transcript #5: ENST00000440486
Querying Taster for transcript #6: ENST00000412135
MT speed 0 s - this script 5.810132 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
FGFR3disease_causing_automatic0.999953731983277simple_aaeaffected0R248Csingle base exchangers121913482show file
FGFR3disease_causing_automatic0.999953731983277simple_aaeaffected0R248Csingle base exchangers121913482show file
FGFR3disease_causing_automatic0.999999999649899simple_aaeaffected0R248Csingle base exchangers121913482show file
FGFR3disease_causing_automatic0.999999999649899simple_aaeaffected0R248Csingle base exchangers121913482show file
FGFR3disease_causing_automatic0.999999999649899simple_aaeaffected0R248Csingle base exchangers121913482show file
FGFR3disease_causing_automatic0.999999999649899simple_aaeaffected0R248Csingle base exchangers121913482show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999953731983277 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM950469)
  • known disease mutation: rs16332 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr4:1803564C>TN/A show variant in all transcripts   IGV
HGNC symbol FGFR3
Ensembl transcript ID ENST00000352904
Genbank transcript ID N/A
UniProt peptide P22607
alteration type single base exchange
alteration region CDS
DNA changes c.742C>T
cDNA.781C>T
g.8531C>T
AA changes R248C Score: 180 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 248
frameshift no
known variant Reference ID: rs121913482
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs16332 (pathogenic for Short ribs|Narrow chest|Craniosynostosis syndrome|Small for gestational age|Growth delay|Short stature|Disproportionate short-limb short stature|Bell-shaped thorax|Skeletal dysplasia|Femoral bowing|Upper limb undergrowth|Lower limb undergrowth|Lethal short-limbed short stature|Bowed humerus|Transitional cell carcinoma of the bladder|Multiple myeloma|Malignant tumor of testis|Epidermal nevus|Lung adenocarcinoma|Squamous cell lung carcinoma|Carcinoma|Seborrheic keratosis|Urinary bladder cancer|Carcinoma of colon|Cancer of cervix|Achondroplasia|Hypochondroplasia|Levy-Hollister syndrome|Thanatophoric dysplasia type 1|Thanatophoric dysplasia, type 2|Squamous cell carcinoma of the head and neck|Muenke syndrome|Camptodactyly-tall stature-scoliosis-hearing loss syndrome|Crouzon syndrome with acanthosis nigricans|Severe achondroplasia with developmental delay and acanthosis nigricans|Skeletal dysplasia with acanthosis nigricans|none provided|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM950469)

known disease mutation at this position, please check HGMD for details (HGMD ID CM950469)
known disease mutation at this position, please check HGMD for details (HGMD ID CM950469)
regulatory features PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.4361
1.8231
(flanking)5.3881
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 lost8528sequence motif lost- wt: acag|AGCG
 mu: acag.AGTG
Acc marginally decreased8528wt: 0.9303 / mu: 0.9178 (marginal change - not scored)wt: GAGCGTCATCTGCCCCCACAGAGCGCTCCCCGCACCGGCCC
mu: GAGCGTCATCTGCCCCCACAGAGTGCTCCCCGCACCGGCCC		 acag|AGCG
Acc increased8540wt: 0.50 / mu: 0.60wt: CCCCCACAGAGCGCTCCCCGCACCGGCCCATCCTGCAGGCG
mu: CCCCCACAGAGTGCTCCCCGCACCGGCCCATCCTGCAGGCG		 ccgc|ACCG
Donor increased8524wt: 0.82 / mu: 0.92wt: GCCCCCACAGAGCGC
mu: GCCCCCACAGAGTGC		 CCCC|acag
distance from splice site 3
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      248IRQTYTLDVLERSPHRPILQAGLP
mutated  not conserved    248YTLDVLECSPHRPILQAGL
Ptroglodytes  not conserved  ENSPTRG00000015836  358SHHSAWLVVL--PAEEELVEADE
Mmulatta  all identical  ENSMMUG00000019945  359AEKAFWLSVHRPRAAEEELVEADE
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000054252  352AEKAFWLRVHGPQAAEEELMETDE
Ggallus  not conserved  ENSGALG00000015708  357SHHSAWLTVLPAEELMEMDDSGSVYAGI
Trubripes  all conserved  ENSTRUG00000003670  316SEKVFWLKIHNQKPALPVLSPGT
Drerio  all identical  ENSDARG00000004782  354NHHSAWLTVLPAVEMEREDDYADILIYV
Dmelanogaster  all identical  FBgn0010389  292SNSTAYLRVV-RSLH--VLEAGV
Celegans  all identical  F58A3.2  387AKKYFHVIIVNRMRRPPIIVPNI
Xtropicalis  not conserved  ENSXETG00000002396  375SHHTAWLTVLPAEPVEKPTTTSSS
protein features
start (aa)end (aa)featuredetails 
23375TOPO_DOMExtracellular (Potential).lost
253355DOMAINIg-like C2-type 3.might get lost (downstream of altered splice site)
262262CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
263268STRANDmight get lost (downstream of altered splice site)
271273STRANDmight get lost (downstream of altered splice site)
275275DISULFIDBy similarity.might get lost (downstream of altered splice site)
283289STRANDmight get lost (downstream of altered splice site)
293295HELIXmight get lost (downstream of altered splice site)
294294CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
302304STRANDmight get lost (downstream of altered splice site)
315315CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
324326STRANDmight get lost (downstream of altered splice site)
328328CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
335345STRANDmight get lost (downstream of altered splice site)
339339DISULFIDBy similarity.might get lost (downstream of altered splice site)
348357STRANDmight get lost (downstream of altered splice site)
376396TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
395395CONFLICTL -> V (in Ref. 7; AAA58470).might get lost (downstream of altered splice site)
397806TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
421421CONFLICTR -> RQ (in Ref. 3; BAD92678).might get lost (downstream of altered splice site)
472761DOMAINProtein kinase.might get lost (downstream of altered splice site)
478486NP_BINDATP (By similarity).might get lost (downstream of altered splice site)
508508MUTAGENK->A: Loss of kinase activity. Abolishes ubiquitination.might get lost (downstream of altered splice site)
508508BINDINGATP (By similarity).might get lost (downstream of altered splice site)
577577MUTAGENY->F: Minor effect on kinase activity.might get lost (downstream of altered splice site)
617617ACT_SITEProton acceptor (By similarity).might get lost (downstream of altered splice site)
647647MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
648648MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
724724MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
724724MUTAGENY->F: Strongly reduced kinase activity. Strongly reduced mitogen activity.might get lost (downstream of altered splice site)
760760MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
760760MUTAGENY->F: Minor effect on kinase activity.might get lost (downstream of altered splice site)
770770MUTAGENY->F: Minor effect on kinase activity. Increased mitogen activity.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2085 / 2085
position (AA) of stopcodon in wt / mu AA sequence 695 / 695
position of stopcodon in wt / mu cDNA 2124 / 2124
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 40 / 40
chromosome 4
strand 1
last intron/exon boundary 1978
theoretical NMD boundary in CDS 1888
length of CDS 2085
coding sequence (CDS) position 742
cDNA position
(for ins/del: last normal base / first normal base)		 781
gDNA position
(for ins/del: last normal base / first normal base)		 8531
chromosomal position
(for ins/del: last normal base / first normal base)		 1803564
original gDNA sequence snippet CGTCATCTGCCCCCACAGAGCGCTCCCCGCACCGGCCCATC
altered gDNA sequence snippet CGTCATCTGCCCCCACAGAGTGCTCCCCGCACCGGCCCATC
original cDNA sequence snippet ACACGCTGGACGTGCTGGAGCGCTCCCCGCACCGGCCCATC
altered cDNA sequence snippet ACACGCTGGACGTGCTGGAGTGCTCCCCGCACCGGCCCATC
wildtype AA sequence MGAPACALAL CVAVAIVAGA SSESLGTEQR VVGRAAEVPG PEPGQQEQLV FGSGDAVELS
CPPPGGGPMG PTVWVKDGTG LVPSERVLVG PQRLQVLNAS HEDSGAYSCR QRLTQRVLCH
FSVRVTDAPS SGDDEDGEDE AEDTGVDTGA PYWTRPERMD KKLLAVPAAN TVRFRCPAAG
NPTPSISWLK NGREFRGEHR IGGIKLRHQQ WSLVMESVVP SDRGNYTCVV ENKFGSIRQT
YTLDVLERSP HRPILQAGLP ANQTAVLGSD VEFHCKVYSD AQPHIQWLKH VEVNGSKVGP
DGTPYVTVLK VSLESNASMS SNTPLVRIAR LSSGEGPTLA NVSELELPAD PKWELSRARL
TLGKPLGEGC FGQVVMAEAI GIDKDRAAKP VTVAVKMLKD DATDKDLSDL VSEMEMMKMI
GKHKNIINLL GACTQGGPLY VLVEYAAKGN LREFLRARRP PGLDYSFDTC KPPEEQLTFK
DLVSCAYQVA RGMEYLASQK CIHRDLAARN VLVTEDNVMK IADFGLARDV HNLDYYKKTT
NGRLPVKWMA PEALFDRVYT HQSDVWSFGV LLWEIFTLGG SPYPGIPVEE LFKLLKEGHR
MDKPANCTHD LYMIMRECWH AAPSQRPTFK QLVEDLDRVL TVTSTDEYLD LSAPFEQYSP
GGQDTPSSSS SGDDSVFAHD LLPPAPPSSG GSRT*
mutated AA sequence MGAPACALAL CVAVAIVAGA SSESLGTEQR VVGRAAEVPG PEPGQQEQLV FGSGDAVELS
CPPPGGGPMG PTVWVKDGTG LVPSERVLVG PQRLQVLNAS HEDSGAYSCR QRLTQRVLCH
FSVRVTDAPS SGDDEDGEDE AEDTGVDTGA PYWTRPERMD KKLLAVPAAN TVRFRCPAAG
NPTPSISWLK NGREFRGEHR IGGIKLRHQQ WSLVMESVVP SDRGNYTCVV ENKFGSIRQT
YTLDVLECSP HRPILQAGLP ANQTAVLGSD VEFHCKVYSD AQPHIQWLKH VEVNGSKVGP
DGTPYVTVLK VSLESNASMS SNTPLVRIAR LSSGEGPTLA NVSELELPAD PKWELSRARL
TLGKPLGEGC FGQVVMAEAI GIDKDRAAKP VTVAVKMLKD DATDKDLSDL VSEMEMMKMI
GKHKNIINLL GACTQGGPLY VLVEYAAKGN LREFLRARRP PGLDYSFDTC KPPEEQLTFK
DLVSCAYQVA RGMEYLASQK CIHRDLAARN VLVTEDNVMK IADFGLARDV HNLDYYKKTT
NGRLPVKWMA PEALFDRVYT HQSDVWSFGV LLWEIFTLGG SPYPGIPVEE LFKLLKEGHR
MDKPANCTHD LYMIMRECWH AAPSQRPTFK QLVEDLDRVL TVTSTDEYLD LSAPFEQYSP
GGQDTPSSSS SGDDSVFAHD LLPPAPPSSG GSRT*
speed 1.32 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: 0.999953731983277 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM950469)
  • known disease mutation: rs16332 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr4:1803564C>TN/A show variant in all transcripts   IGV
HGNC symbol FGFR3
Ensembl transcript ID ENST00000412135
Genbank transcript ID NM_022965
UniProt peptide P22607
alteration type single base exchange
alteration region CDS
DNA changes c.742C>T
cDNA.998C>T
g.8531C>T
AA changes R248C Score: 180 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 248
frameshift no
known variant Reference ID: rs121913482
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs16332 (pathogenic for Short ribs|Narrow chest|Craniosynostosis syndrome|Small for gestational age|Growth delay|Short stature|Disproportionate short-limb short stature|Bell-shaped thorax|Skeletal dysplasia|Femoral bowing|Upper limb undergrowth|Lower limb undergrowth|Lethal short-limbed short stature|Bowed humerus|Transitional cell carcinoma of the bladder|Multiple myeloma|Malignant tumor of testis|Epidermal nevus|Lung adenocarcinoma|Squamous cell lung carcinoma|Carcinoma|Seborrheic keratosis|Urinary bladder cancer|Carcinoma of colon|Cancer of cervix|Achondroplasia|Hypochondroplasia|Levy-Hollister syndrome|Thanatophoric dysplasia type 1|Thanatophoric dysplasia, type 2|Squamous cell carcinoma of the head and neck|Muenke syndrome|Camptodactyly-tall stature-scoliosis-hearing loss syndrome|Crouzon syndrome with acanthosis nigricans|Severe achondroplasia with developmental delay and acanthosis nigricans|Skeletal dysplasia with acanthosis nigricans|none provided|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM950469)

known disease mutation at this position, please check HGMD for details (HGMD ID CM950469)
known disease mutation at this position, please check HGMD for details (HGMD ID CM950469)
regulatory features PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.4361
1.8231
(flanking)5.3881
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 lost8528sequence motif lost- wt: acag|AGCG
 mu: acag.AGTG
Acc marginally decreased8528wt: 0.9303 / mu: 0.9178 (marginal change - not scored)wt: GAGCGTCATCTGCCCCCACAGAGCGCTCCCCGCACCGGCCC
mu: GAGCGTCATCTGCCCCCACAGAGTGCTCCCCGCACCGGCCC		 acag|AGCG
Acc increased8540wt: 0.50 / mu: 0.60wt: CCCCCACAGAGCGCTCCCCGCACCGGCCCATCCTGCAGGCG
mu: CCCCCACAGAGTGCTCCCCGCACCGGCCCATCCTGCAGGCG		 ccgc|ACCG
Donor increased8524wt: 0.82 / mu: 0.92wt: GCCCCCACAGAGCGC
mu: GCCCCCACAGAGTGC		 CCCC|acag
distance from splice site 3
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      248IRQTYTLDVLERSPHRPILQAGLP
mutated  not conserved    248YTLDVLECSPHRPILQAGL
Ptroglodytes  not conserved  ENSPTRG00000015836  358SHHSAWLVVL--PAEEELVEADE
Mmulatta  all identical  ENSMMUG00000019945  359AEKAFWLSVHRPRAAEEELVEADE
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000054252  352AEKAFWLRVHGPQAAEEELMETDE
Ggallus  not conserved  ENSGALG00000015708  357SHHSAWLTVLPAEELMEMDDSGSVYAGI
Trubripes  all conserved  ENSTRUG00000003670  316SEKVFWLKIHNQKPALPVLSPGT
Drerio  all identical  ENSDARG00000004782  354NHHSAWLTVLPAVEMEREDDYADILIYV
Dmelanogaster  all identical  FBgn0010389  292SNSTAYLRVV-RSLH--VLEAGV
Celegans  all identical  F58A3.2  387AKKYFHVIIVNRMRRPPIIVPNI
Xtropicalis  not conserved  ENSXETG00000002396  375SHHTAWLTVLPAEPVEKPTTTSSS
protein features
start (aa)end (aa)featuredetails 
23375TOPO_DOMExtracellular (Potential).lost
253355DOMAINIg-like C2-type 3.might get lost (downstream of altered splice site)
262262CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
263268STRANDmight get lost (downstream of altered splice site)
271273STRANDmight get lost (downstream of altered splice site)
275275DISULFIDBy similarity.might get lost (downstream of altered splice site)
283289STRANDmight get lost (downstream of altered splice site)
293295HELIXmight get lost (downstream of altered splice site)
294294CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
302304STRANDmight get lost (downstream of altered splice site)
315315CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
324326STRANDmight get lost (downstream of altered splice site)
328328CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
335345STRANDmight get lost (downstream of altered splice site)
339339DISULFIDBy similarity.might get lost (downstream of altered splice site)
348357STRANDmight get lost (downstream of altered splice site)
376396TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
395395CONFLICTL -> V (in Ref. 7; AAA58470).might get lost (downstream of altered splice site)
397806TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
421421CONFLICTR -> RQ (in Ref. 3; BAD92678).might get lost (downstream of altered splice site)
472761DOMAINProtein kinase.might get lost (downstream of altered splice site)
478486NP_BINDATP (By similarity).might get lost (downstream of altered splice site)
508508MUTAGENK->A: Loss of kinase activity. Abolishes ubiquitination.might get lost (downstream of altered splice site)
508508BINDINGATP (By similarity).might get lost (downstream of altered splice site)
577577MUTAGENY->F: Minor effect on kinase activity.might get lost (downstream of altered splice site)
617617ACT_SITEProton acceptor (By similarity).might get lost (downstream of altered splice site)
647647MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
648648MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
724724MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
724724MUTAGENY->F: Strongly reduced kinase activity. Strongly reduced mitogen activity.might get lost (downstream of altered splice site)
760760MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
760760MUTAGENY->F: Minor effect on kinase activity.might get lost (downstream of altered splice site)
770770MUTAGENY->F: Minor effect on kinase activity. Increased mitogen activity.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2085 / 2085
position (AA) of stopcodon in wt / mu AA sequence 695 / 695
position of stopcodon in wt / mu cDNA 2341 / 2341
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 257 / 257
chromosome 4
strand 1
last intron/exon boundary 2195
theoretical NMD boundary in CDS 1888
length of CDS 2085
coding sequence (CDS) position 742
cDNA position
(for ins/del: last normal base / first normal base)		 998
gDNA position
(for ins/del: last normal base / first normal base)		 8531
chromosomal position
(for ins/del: last normal base / first normal base)		 1803564
original gDNA sequence snippet CGTCATCTGCCCCCACAGAGCGCTCCCCGCACCGGCCCATC
altered gDNA sequence snippet CGTCATCTGCCCCCACAGAGTGCTCCCCGCACCGGCCCATC
original cDNA sequence snippet ACACGCTGGACGTGCTGGAGCGCTCCCCGCACCGGCCCATC
altered cDNA sequence snippet ACACGCTGGACGTGCTGGAGTGCTCCCCGCACCGGCCCATC
wildtype AA sequence MGAPACALAL CVAVAIVAGA SSESLGTEQR VVGRAAEVPG PEPGQQEQLV FGSGDAVELS
CPPPGGGPMG PTVWVKDGTG LVPSERVLVG PQRLQVLNAS HEDSGAYSCR QRLTQRVLCH
FSVRVTDAPS SGDDEDGEDE AEDTGVDTGA PYWTRPERMD KKLLAVPAAN TVRFRCPAAG
NPTPSISWLK NGREFRGEHR IGGIKLRHQQ WSLVMESVVP SDRGNYTCVV ENKFGSIRQT
YTLDVLERSP HRPILQAGLP ANQTAVLGSD VEFHCKVYSD AQPHIQWLKH VEVNGSKVGP
DGTPYVTVLK VSLESNASMS SNTPLVRIAR LSSGEGPTLA NVSELELPAD PKWELSRARL
TLGKPLGEGC FGQVVMAEAI GIDKDRAAKP VTVAVKMLKD DATDKDLSDL VSEMEMMKMI
GKHKNIINLL GACTQGGPLY VLVEYAAKGN LREFLRARRP PGLDYSFDTC KPPEEQLTFK
DLVSCAYQVA RGMEYLASQK CIHRDLAARN VLVTEDNVMK IADFGLARDV HNLDYYKKTT
NGRLPVKWMA PEALFDRVYT HQSDVWSFGV LLWEIFTLGG SPYPGIPVEE LFKLLKEGHR
MDKPANCTHD LYMIMRECWH AAPSQRPTFK QLVEDLDRVL TVTSTDEYLD LSAPFEQYSP
GGQDTPSSSS SGDDSVFAHD LLPPAPPSSG GSRT*
mutated AA sequence MGAPACALAL CVAVAIVAGA SSESLGTEQR VVGRAAEVPG PEPGQQEQLV FGSGDAVELS
CPPPGGGPMG PTVWVKDGTG LVPSERVLVG PQRLQVLNAS HEDSGAYSCR QRLTQRVLCH
FSVRVTDAPS SGDDEDGEDE AEDTGVDTGA PYWTRPERMD KKLLAVPAAN TVRFRCPAAG
NPTPSISWLK NGREFRGEHR IGGIKLRHQQ WSLVMESVVP SDRGNYTCVV ENKFGSIRQT
YTLDVLECSP HRPILQAGLP ANQTAVLGSD VEFHCKVYSD AQPHIQWLKH VEVNGSKVGP
DGTPYVTVLK VSLESNASMS SNTPLVRIAR LSSGEGPTLA NVSELELPAD PKWELSRARL
TLGKPLGEGC FGQVVMAEAI GIDKDRAAKP VTVAVKMLKD DATDKDLSDL VSEMEMMKMI
GKHKNIINLL GACTQGGPLY VLVEYAAKGN LREFLRARRP PGLDYSFDTC KPPEEQLTFK
DLVSCAYQVA RGMEYLASQK CIHRDLAARN VLVTEDNVMK IADFGLARDV HNLDYYKKTT
NGRLPVKWMA PEALFDRVYT HQSDVWSFGV LLWEIFTLGG SPYPGIPVEE LFKLLKEGHR
MDKPANCTHD LYMIMRECWH AAPSQRPTFK QLVEDLDRVL TVTSTDEYLD LSAPFEQYSP
GGQDTPSSSS SGDDSVFAHD LLPPAPPSSG GSRT*
speed 0.36 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
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999649899 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM950469)
  • known disease mutation: rs16332 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr4:1803564C>TN/A show variant in all transcripts   IGV
HGNC symbol FGFR3
Ensembl transcript ID ENST00000481110
Genbank transcript ID N/A
UniProt peptide P22607
alteration type single base exchange
alteration region CDS
DNA changes c.742C>T
cDNA.1003C>T
g.8531C>T
AA changes R248C Score: 180 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 248
frameshift no
known variant Reference ID: rs121913482
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs16332 (pathogenic for Short ribs|Narrow chest|Craniosynostosis syndrome|Small for gestational age|Growth delay|Short stature|Disproportionate short-limb short stature|Bell-shaped thorax|Skeletal dysplasia|Femoral bowing|Upper limb undergrowth|Lower limb undergrowth|Lethal short-limbed short stature|Bowed humerus|Transitional cell carcinoma of the bladder|Multiple myeloma|Malignant tumor of testis|Epidermal nevus|Lung adenocarcinoma|Squamous cell lung carcinoma|Carcinoma|Seborrheic keratosis|Urinary bladder cancer|Carcinoma of colon|Cancer of cervix|Achondroplasia|Hypochondroplasia|Levy-Hollister syndrome|Thanatophoric dysplasia type 1|Thanatophoric dysplasia, type 2|Squamous cell carcinoma of the head and neck|Muenke syndrome|Camptodactyly-tall stature-scoliosis-hearing loss syndrome|Crouzon syndrome with acanthosis nigricans|Severe achondroplasia with developmental delay and acanthosis nigricans|Skeletal dysplasia with acanthosis nigricans|none provided|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM950469)

known disease mutation at this position, please check HGMD for details (HGMD ID CM950469)
known disease mutation at this position, please check HGMD for details (HGMD ID CM950469)
regulatory features PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.4361
1.8231
(flanking)5.3881
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 lost8528sequence motif lost- wt: acag|AGCG
 mu: acag.AGTG
Acc marginally decreased8528wt: 0.9303 / mu: 0.9178 (marginal change - not scored)wt: GAGCGTCATCTGCCCCCACAGAGCGCTCCCCGCACCGGCCC
mu: GAGCGTCATCTGCCCCCACAGAGTGCTCCCCGCACCGGCCC		 acag|AGCG
Acc increased8540wt: 0.50 / mu: 0.60wt: CCCCCACAGAGCGCTCCCCGCACCGGCCCATCCTGCAGGCG
mu: CCCCCACAGAGTGCTCCCCGCACCGGCCCATCCTGCAGGCG		 ccgc|ACCG
Donor increased8524wt: 0.82 / mu: 0.92wt: GCCCCCACAGAGCGC
mu: GCCCCCACAGAGTGC		 CCCC|acag
distance from splice site 3
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      248IRQTYTLDVLERSPHRPILQAGLP
mutated  not conserved    248YTLDVLECSPHRPILQAGL
Ptroglodytes  all identical  ENSPTRG00000015836  248YTLDVLERSPHRPILQAGL
Mmulatta  all identical  ENSMMUG00000019945  248YTLDVLERSPHRPILQAGL
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000054252  242YTLDVLERSPHRPILQAGL
Ggallus  all identical  ENSGALG00000015708  247ERSPHRPILQAGL
Trubripes  all identical  ENSTRUG00000003670  207ISHTYQLDVLERSPHRPILQAGL
Drerio  not conserved  ENSDARG00000004782  241PLHDHSVTSVPLQTHTRICTPGV
Dmelanogaster  all identical  FBgn0010389  194VSDRVNHKPILMTG-
Celegans  all identical  F58A3.2  387AKKYFHVIIVNRMRRPPIIVPNI
Xtropicalis  all identical  ENSXETG00000002396  264DVLERSSHRPILQAGL
protein features
start (aa)end (aa)featuredetails 
23375TOPO_DOMExtracellular (Potential).lost
253355DOMAINIg-like C2-type 3.might get lost (downstream of altered splice site)
262262CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
263268STRANDmight get lost (downstream of altered splice site)
271273STRANDmight get lost (downstream of altered splice site)
275275DISULFIDBy similarity.might get lost (downstream of altered splice site)
283289STRANDmight get lost (downstream of altered splice site)
293295HELIXmight get lost (downstream of altered splice site)
294294CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
302304STRANDmight get lost (downstream of altered splice site)
315315CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
324326STRANDmight get lost (downstream of altered splice site)
328328CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
335345STRANDmight get lost (downstream of altered splice site)
339339DISULFIDBy similarity.might get lost (downstream of altered splice site)
348357STRANDmight get lost (downstream of altered splice site)
376396TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
395395CONFLICTL -> V (in Ref. 7; AAA58470).might get lost (downstream of altered splice site)
397806TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
421421CONFLICTR -> RQ (in Ref. 3; BAD92678).might get lost (downstream of altered splice site)
472761DOMAINProtein kinase.might get lost (downstream of altered splice site)
478486NP_BINDATP (By similarity).might get lost (downstream of altered splice site)
508508MUTAGENK->A: Loss of kinase activity. Abolishes ubiquitination.might get lost (downstream of altered splice site)
508508BINDINGATP (By similarity).might get lost (downstream of altered splice site)
577577MUTAGENY->F: Minor effect on kinase activity.might get lost (downstream of altered splice site)
617617ACT_SITEProton acceptor (By similarity).might get lost (downstream of altered splice site)
647647MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
648648MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
724724MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
724724MUTAGENY->F: Strongly reduced kinase activity. Strongly reduced mitogen activity.might get lost (downstream of altered splice site)
760760MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
760760MUTAGENY->F: Minor effect on kinase activity.might get lost (downstream of altered splice site)
770770MUTAGENY->F: Minor effect on kinase activity. Increased mitogen activity.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2379 / 2379
position (AA) of stopcodon in wt / mu AA sequence 793 / 793
position of stopcodon in wt / mu cDNA 2640 / 2640
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 262 / 262
chromosome 4
strand 1
last intron/exon boundary 2468
theoretical NMD boundary in CDS 2156
length of CDS 2379
coding sequence (CDS) position 742
cDNA position
(for ins/del: last normal base / first normal base)		 1003
gDNA position
(for ins/del: last normal base / first normal base)		 8531
chromosomal position
(for ins/del: last normal base / first normal base)		 1803564
original gDNA sequence snippet CGTCATCTGCCCCCACAGAGCGCTCCCCGCACCGGCCCATC
altered gDNA sequence snippet CGTCATCTGCCCCCACAGAGTGCTCCCCGCACCGGCCCATC
original cDNA sequence snippet ACACGCTGGACGTGCTGGAGCGCTCCCCGCACCGGCCCATC
altered cDNA sequence snippet ACACGCTGGACGTGCTGGAGTGCTCCCCGCACCGGCCCATC
wildtype AA sequence MGAPACALAL CVAVAIVAGA SSESLGTEQR VVGRAAEVPG PEPGQQEQLV FGSGDAVELS
CPPPGGGPMG PTVWVKDGTG LVPSERVLVG PQRLQVLNAS HEDSGAYSCR QRLTQRVLCH
FSVRVTDAPS SGDDEDGEDE AEDTGVDTGA PYWTRPERMD KKLLAVPAAN TVRFRCPAAG
NPTPSISWLK NGREFRGEHR IGGIKLRHQQ WSLVMESVVP SDRGNYTCVV ENKFGSIRQT
YTLDVLERSP HRPILQAGLP ANQTAVLGSD VEFHCKVYSD AQPHIQWLKH VEVNGSKVGP
DGTPYVTVLK TAGANTTDKE LEVLSLHNVT FEDAGEYTCL AGNSIGFSHH SAWLVVLPAE
EELVEADEAG SVYAGILSYG VGFFLFILVV AAVTLCRLRS PPKKGLGSPT VHKISRFPLK
RQQVSLESNA SMSSNTPLVR IARLSSGEGP TLANVSELEL PADPKWELSR ARLTLGKPLG
EGCFGQVVMA EAIGIDKDRA AKPVTVAVKM LKDDATDKDL SDLVSEMEMM KMIGKHKNII
NLLGACTQGG PLYVLVEYAA KGNLREFLRA RRPPGLDYSF DTCKPPEEQL TFKDLVSCAY
QVARGMEYLA SQKCIHRDLA ARNVLVTEDN VMKIADFGLA RDVHNLDYYK KTTNLVLWGP
ALGDLHAGGL PVPRHPCGGA LQAAEGGPPH GQARQLHTRP VHDHAGVLAC RALPEAHLQA
AGGGPGPCPY RDVHRRVPGP VGAFRAVLPG WPGHPQLQLL RGRLRVCPRP AAPGPTQQWG
LADVKGHWSP TM*
mutated AA sequence MGAPACALAL CVAVAIVAGA SSESLGTEQR VVGRAAEVPG PEPGQQEQLV FGSGDAVELS
CPPPGGGPMG PTVWVKDGTG LVPSERVLVG PQRLQVLNAS HEDSGAYSCR QRLTQRVLCH
FSVRVTDAPS SGDDEDGEDE AEDTGVDTGA PYWTRPERMD KKLLAVPAAN TVRFRCPAAG
NPTPSISWLK NGREFRGEHR IGGIKLRHQQ WSLVMESVVP SDRGNYTCVV ENKFGSIRQT
YTLDVLECSP HRPILQAGLP ANQTAVLGSD VEFHCKVYSD AQPHIQWLKH VEVNGSKVGP
DGTPYVTVLK TAGANTTDKE LEVLSLHNVT FEDAGEYTCL AGNSIGFSHH SAWLVVLPAE
EELVEADEAG SVYAGILSYG VGFFLFILVV AAVTLCRLRS PPKKGLGSPT VHKISRFPLK
RQQVSLESNA SMSSNTPLVR IARLSSGEGP TLANVSELEL PADPKWELSR ARLTLGKPLG
EGCFGQVVMA EAIGIDKDRA AKPVTVAVKM LKDDATDKDL SDLVSEMEMM KMIGKHKNII
NLLGACTQGG PLYVLVEYAA KGNLREFLRA RRPPGLDYSF DTCKPPEEQL TFKDLVSCAY
QVARGMEYLA SQKCIHRDLA ARNVLVTEDN VMKIADFGLA RDVHNLDYYK KTTNLVLWGP
ALGDLHAGGL PVPRHPCGGA LQAAEGGPPH GQARQLHTRP VHDHAGVLAC RALPEAHLQA
AGGGPGPCPY RDVHRRVPGP VGAFRAVLPG WPGHPQLQLL RGRLRVCPRP AAPGPTQQWG
LADVKGHWSP TM*
speed 0.45 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: 0.999999999649899 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM950469)
  • known disease mutation: rs16332 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr4:1803564C>TN/A show variant in all transcripts   IGV
HGNC symbol FGFR3
Ensembl transcript ID ENST00000260795
Genbank transcript ID N/A
UniProt peptide P22607
alteration type single base exchange
alteration region CDS
DNA changes c.742C>T
cDNA.844C>T
g.8531C>T
AA changes R248C Score: 180 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 248
frameshift no
known variant Reference ID: rs121913482
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs16332 (pathogenic for Short ribs|Narrow chest|Craniosynostosis syndrome|Small for gestational age|Growth delay|Short stature|Disproportionate short-limb short stature|Bell-shaped thorax|Skeletal dysplasia|Femoral bowing|Upper limb undergrowth|Lower limb undergrowth|Lethal short-limbed short stature|Bowed humerus|Transitional cell carcinoma of the bladder|Multiple myeloma|Malignant tumor of testis|Epidermal nevus|Lung adenocarcinoma|Squamous cell lung carcinoma|Carcinoma|Seborrheic keratosis|Urinary bladder cancer|Carcinoma of colon|Cancer of cervix|Achondroplasia|Hypochondroplasia|Levy-Hollister syndrome|Thanatophoric dysplasia type 1|Thanatophoric dysplasia, type 2|Squamous cell carcinoma of the head and neck|Muenke syndrome|Camptodactyly-tall stature-scoliosis-hearing loss syndrome|Crouzon syndrome with acanthosis nigricans|Severe achondroplasia with developmental delay and acanthosis nigricans|Skeletal dysplasia with acanthosis nigricans|none provided|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM950469)

known disease mutation at this position, please check HGMD for details (HGMD ID CM950469)
known disease mutation at this position, please check HGMD for details (HGMD ID CM950469)
regulatory features PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.4361
1.8231
(flanking)5.3881
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 lost8528sequence motif lost- wt: acag|AGCG
 mu: acag.AGTG
Acc marginally decreased8528wt: 0.9303 / mu: 0.9178 (marginal change - not scored)wt: GAGCGTCATCTGCCCCCACAGAGCGCTCCCCGCACCGGCCC
mu: GAGCGTCATCTGCCCCCACAGAGTGCTCCCCGCACCGGCCC		 acag|AGCG
Acc increased8540wt: 0.50 / mu: 0.60wt: CCCCCACAGAGCGCTCCCCGCACCGGCCCATCCTGCAGGCG
mu: CCCCCACAGAGTGCTCCCCGCACCGGCCCATCCTGCAGGCG		 ccgc|ACCG
Donor increased8524wt: 0.82 / mu: 0.92wt: GCCCCCACAGAGCGC
mu: GCCCCCACAGAGTGC		 CCCC|acag
distance from splice site 3
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      248IRQTYTLDVLERSPHRPILQAGLP
mutated  not conserved    248YTLDVLECSPHRPILQAGL
Ptroglodytes  all identical  ENSPTRG00000015836  248YTLDVLERSPHRPILQAGL
Mmulatta  all identical  ENSMMUG00000019945  248YTLDVLERSPHRPILQAGL
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000054252  242YTLDVLERSPHRPILQAGL
Ggallus  all identical  ENSGALG00000015708  247ERSPHRPILQAGL
Trubripes  all identical  ENSTRUG00000003670  207ISHTYQLDVLERSPHRPILQAGL
Drerio  not conserved  ENSDARG00000004782  241PLHDHSVTSVPLQTHTRICTPGV
Dmelanogaster  all identical  FBgn0010389  194VSDRVNHKPILMTG-
Celegans  all identical  F58A3.2  387AKKYFHVIIVNRMRRPPIIVPNI
Xtropicalis  all identical  ENSXETG00000002396  264DVLERSSHRPILQAGL
protein features
start (aa)end (aa)featuredetails 
23375TOPO_DOMExtracellular (Potential).lost
253355DOMAINIg-like C2-type 3.might get lost (downstream of altered splice site)
262262CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
263268STRANDmight get lost (downstream of altered splice site)
271273STRANDmight get lost (downstream of altered splice site)
275275DISULFIDBy similarity.might get lost (downstream of altered splice site)
283289STRANDmight get lost (downstream of altered splice site)
293295HELIXmight get lost (downstream of altered splice site)
294294CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
302304STRANDmight get lost (downstream of altered splice site)
315315CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
324326STRANDmight get lost (downstream of altered splice site)
328328CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
335345STRANDmight get lost (downstream of altered splice site)
339339DISULFIDBy similarity.might get lost (downstream of altered splice site)
348357STRANDmight get lost (downstream of altered splice site)
376396TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
395395CONFLICTL -> V (in Ref. 7; AAA58470).might get lost (downstream of altered splice site)
397806TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
421421CONFLICTR -> RQ (in Ref. 3; BAD92678).might get lost (downstream of altered splice site)
472761DOMAINProtein kinase.might get lost (downstream of altered splice site)
478486NP_BINDATP (By similarity).might get lost (downstream of altered splice site)
508508MUTAGENK->A: Loss of kinase activity. Abolishes ubiquitination.might get lost (downstream of altered splice site)
508508BINDINGATP (By similarity).might get lost (downstream of altered splice site)
577577MUTAGENY->F: Minor effect on kinase activity.might get lost (downstream of altered splice site)
617617ACT_SITEProton acceptor (By similarity).might get lost (downstream of altered splice site)
647647MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
648648MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
724724MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
724724MUTAGENY->F: Strongly reduced kinase activity. Strongly reduced mitogen activity.might get lost (downstream of altered splice site)
760760MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
760760MUTAGENY->F: Minor effect on kinase activity.might get lost (downstream of altered splice site)
770770MUTAGENY->F: Minor effect on kinase activity. Increased mitogen activity.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2421 / 2421
position (AA) of stopcodon in wt / mu AA sequence 807 / 807
position of stopcodon in wt / mu cDNA 2523 / 2523
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 103 / 103
chromosome 4
strand 1
last intron/exon boundary 2377
theoretical NMD boundary in CDS 2224
length of CDS 2421
coding sequence (CDS) position 742
cDNA position
(for ins/del: last normal base / first normal base)		 844
gDNA position
(for ins/del: last normal base / first normal base)		 8531
chromosomal position
(for ins/del: last normal base / first normal base)		 1803564
original gDNA sequence snippet CGTCATCTGCCCCCACAGAGCGCTCCCCGCACCGGCCCATC
altered gDNA sequence snippet CGTCATCTGCCCCCACAGAGTGCTCCCCGCACCGGCCCATC
original cDNA sequence snippet ACACGCTGGACGTGCTGGAGCGCTCCCCGCACCGGCCCATC
altered cDNA sequence snippet ACACGCTGGACGTGCTGGAGTGCTCCCCGCACCGGCCCATC
wildtype AA sequence MGAPACALAL CVAVAIVAGA SSESLGTEQR VVGRAAEVPG PEPGQQEQLV FGSGDAVELS
CPPPGGGPMG PTVWVKDGTG LVPSERVLVG PQRLQVLNAS HEDSGAYSCR QRLTQRVLCH
FSVRVTDAPS SGDDEDGEDE AEDTGVDTGA PYWTRPERMD KKLLAVPAAN TVRFRCPAAG
NPTPSISWLK NGREFRGEHR IGGIKLRHQQ WSLVMESVVP SDRGNYTCVV ENKFGSIRQT
YTLDVLERSP HRPILQAGLP ANQTAVLGSD VEFHCKVYSD AQPHIQWLKH VEVNGSKVGP
DGTPYVTVLK TAGANTTDKE LEVLSLHNVT FEDAGEYTCL AGNSIGFSHH SAWLVVLPAE
EELVEADEAG SVYAGILSYG VGFFLFILVV AAVTLCRLRS PPKKGLGSPT VHKISRFPLK
RQVSLESNAS MSSNTPLVRI ARLSSGEGPT LANVSELELP ADPKWELSRA RLTLGKPLGE
GCFGQVVMAE AIGIDKDRAA KPVTVAVKML KDDATDKDLS DLVSEMEMMK MIGKHKNIIN
LLGACTQGGP LYVLVEYAAK GNLREFLRAR RPPGLDYSFD TCKPPEEQLT FKDLVSCAYQ
VARGMEYLAS QKCIHRDLAA RNVLVTEDNV MKIADFGLAR DVHNLDYYKK TTNGRLPVKW
MAPEALFDRV YTHQSDVWSF GVLLWEIFTL GGSPYPGIPV EELFKLLKEG HRMDKPANCT
HDLYMIMREC WHAAPSQRPT FKQLVEDLDR VLTVTSTDEY LDLSAPFEQY SPGGQDTPSS
SSSGDDSVFA HDLLPPAPPS SGGSRT*
mutated AA sequence MGAPACALAL CVAVAIVAGA SSESLGTEQR VVGRAAEVPG PEPGQQEQLV FGSGDAVELS
CPPPGGGPMG PTVWVKDGTG LVPSERVLVG PQRLQVLNAS HEDSGAYSCR QRLTQRVLCH
FSVRVTDAPS SGDDEDGEDE AEDTGVDTGA PYWTRPERMD KKLLAVPAAN TVRFRCPAAG
NPTPSISWLK NGREFRGEHR IGGIKLRHQQ WSLVMESVVP SDRGNYTCVV ENKFGSIRQT
YTLDVLECSP HRPILQAGLP ANQTAVLGSD VEFHCKVYSD AQPHIQWLKH VEVNGSKVGP
DGTPYVTVLK TAGANTTDKE LEVLSLHNVT FEDAGEYTCL AGNSIGFSHH SAWLVVLPAE
EELVEADEAG SVYAGILSYG VGFFLFILVV AAVTLCRLRS PPKKGLGSPT VHKISRFPLK
RQVSLESNAS MSSNTPLVRI ARLSSGEGPT LANVSELELP ADPKWELSRA RLTLGKPLGE
GCFGQVVMAE AIGIDKDRAA KPVTVAVKML KDDATDKDLS DLVSEMEMMK MIGKHKNIIN
LLGACTQGGP LYVLVEYAAK GNLREFLRAR RPPGLDYSFD TCKPPEEQLT FKDLVSCAYQ
VARGMEYLAS QKCIHRDLAA RNVLVTEDNV MKIADFGLAR DVHNLDYYKK TTNGRLPVKW
MAPEALFDRV YTHQSDVWSF GVLLWEIFTL GGSPYPGIPV EELFKLLKEG HRMDKPANCT
HDLYMIMREC WHAAPSQRPT FKQLVEDLDR VLTVTSTDEY LDLSAPFEQY SPGGQDTPSS
SSSGDDSVFA HDLLPPAPPS SGGSRT*
speed 0.45 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: 0.999999999649899 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM950469)
  • known disease mutation: rs16332 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr4:1803564C>TN/A show variant in all transcripts   IGV
HGNC symbol FGFR3
Ensembl transcript ID ENST00000340107
Genbank transcript ID NM_001163213
UniProt peptide P22607
alteration type single base exchange
alteration region CDS
DNA changes c.742C>T
cDNA.998C>T
g.8531C>T
AA changes R248C Score: 180 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 248
frameshift no
known variant Reference ID: rs121913482
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs16332 (pathogenic for Short ribs|Narrow chest|Craniosynostosis syndrome|Small for gestational age|Growth delay|Short stature|Disproportionate short-limb short stature|Bell-shaped thorax|Skeletal dysplasia|Femoral bowing|Upper limb undergrowth|Lower limb undergrowth|Lethal short-limbed short stature|Bowed humerus|Transitional cell carcinoma of the bladder|Multiple myeloma|Malignant tumor of testis|Epidermal nevus|Lung adenocarcinoma|Squamous cell lung carcinoma|Carcinoma|Seborrheic keratosis|Urinary bladder cancer|Carcinoma of colon|Cancer of cervix|Achondroplasia|Hypochondroplasia|Levy-Hollister syndrome|Thanatophoric dysplasia type 1|Thanatophoric dysplasia, type 2|Squamous cell carcinoma of the head and neck|Muenke syndrome|Camptodactyly-tall stature-scoliosis-hearing loss syndrome|Crouzon syndrome with acanthosis nigricans|Severe achondroplasia with developmental delay and acanthosis nigricans|Skeletal dysplasia with acanthosis nigricans|none provided|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM950469)

known disease mutation at this position, please check HGMD for details (HGMD ID CM950469)
known disease mutation at this position, please check HGMD for details (HGMD ID CM950469)
regulatory features PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.4361
1.8231
(flanking)5.3881
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 lost8528sequence motif lost- wt: acag|AGCG
 mu: acag.AGTG
Acc marginally decreased8528wt: 0.9303 / mu: 0.9178 (marginal change - not scored)wt: GAGCGTCATCTGCCCCCACAGAGCGCTCCCCGCACCGGCCC
mu: GAGCGTCATCTGCCCCCACAGAGTGCTCCCCGCACCGGCCC		 acag|AGCG
Acc increased8540wt: 0.50 / mu: 0.60wt: CCCCCACAGAGCGCTCCCCGCACCGGCCCATCCTGCAGGCG
mu: CCCCCACAGAGTGCTCCCCGCACCGGCCCATCCTGCAGGCG		 ccgc|ACCG
Donor increased8524wt: 0.82 / mu: 0.92wt: GCCCCCACAGAGCGC
mu: GCCCCCACAGAGTGC		 CCCC|acag
distance from splice site 3
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      248IRQTYTLDVLERSPHRPILQAGLP
mutated  not conserved    248YTLDVLECSPHRPILQAGL
Ptroglodytes  all identical  ENSPTRG00000015836  248YTLDVLERSPHRPILQAGL
Mmulatta  all identical  ENSMMUG00000019945  248YTLDVLERSPHRPILQAGL
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000054252  242YTLDVLERSPHRPILQAGL
Ggallus  all identical  ENSGALG00000015708  247ERSPHRPILQAGL
Trubripes  all identical  ENSTRUG00000003670  207ISHTYQLDVLERSPHRPILQAGL
Drerio  not conserved  ENSDARG00000004782  241PLHDHSVTSVPLQTHTRICTPGV
Dmelanogaster  all identical  FBgn0010389  194VSDRVNHKPILMTG-
Celegans  all identical  F58A3.2  387AKKYFHVIIVNRMRRPPIIVPNI
Xtropicalis  all identical  ENSXETG00000002396  264DVLERSSHRPILQAGL
protein features
start (aa)end (aa)featuredetails 
23375TOPO_DOMExtracellular (Potential).lost
253355DOMAINIg-like C2-type 3.might get lost (downstream of altered splice site)
262262CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
263268STRANDmight get lost (downstream of altered splice site)
271273STRANDmight get lost (downstream of altered splice site)
275275DISULFIDBy similarity.might get lost (downstream of altered splice site)
283289STRANDmight get lost (downstream of altered splice site)
293295HELIXmight get lost (downstream of altered splice site)
294294CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
302304STRANDmight get lost (downstream of altered splice site)
315315CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
324326STRANDmight get lost (downstream of altered splice site)
328328CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
335345STRANDmight get lost (downstream of altered splice site)
339339DISULFIDBy similarity.might get lost (downstream of altered splice site)
348357STRANDmight get lost (downstream of altered splice site)
376396TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
395395CONFLICTL -> V (in Ref. 7; AAA58470).might get lost (downstream of altered splice site)
397806TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
421421CONFLICTR -> RQ (in Ref. 3; BAD92678).might get lost (downstream of altered splice site)
472761DOMAINProtein kinase.might get lost (downstream of altered splice site)
478486NP_BINDATP (By similarity).might get lost (downstream of altered splice site)
508508MUTAGENK->A: Loss of kinase activity. Abolishes ubiquitination.might get lost (downstream of altered splice site)
508508BINDINGATP (By similarity).might get lost (downstream of altered splice site)
577577MUTAGENY->F: Minor effect on kinase activity.might get lost (downstream of altered splice site)
617617ACT_SITEProton acceptor (By similarity).might get lost (downstream of altered splice site)
647647MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
648648MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
724724MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
724724MUTAGENY->F: Strongly reduced kinase activity. Strongly reduced mitogen activity.might get lost (downstream of altered splice site)
760760MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
760760MUTAGENY->F: Minor effect on kinase activity.might get lost (downstream of altered splice site)
770770MUTAGENY->F: Minor effect on kinase activity. Increased mitogen activity.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2427 / 2427
position (AA) of stopcodon in wt / mu AA sequence 809 / 809
position of stopcodon in wt / mu cDNA 2683 / 2683
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 257 / 257
chromosome 4
strand 1
last intron/exon boundary 2537
theoretical NMD boundary in CDS 2230
length of CDS 2427
coding sequence (CDS) position 742
cDNA position
(for ins/del: last normal base / first normal base)		 998
gDNA position
(for ins/del: last normal base / first normal base)		 8531
chromosomal position
(for ins/del: last normal base / first normal base)		 1803564
original gDNA sequence snippet CGTCATCTGCCCCCACAGAGCGCTCCCCGCACCGGCCCATC
altered gDNA sequence snippet CGTCATCTGCCCCCACAGAGTGCTCCCCGCACCGGCCCATC
original cDNA sequence snippet ACACGCTGGACGTGCTGGAGCGCTCCCCGCACCGGCCCATC
altered cDNA sequence snippet ACACGCTGGACGTGCTGGAGTGCTCCCCGCACCGGCCCATC
wildtype AA sequence MGAPACALAL CVAVAIVAGA SSESLGTEQR VVGRAAEVPG PEPGQQEQLV FGSGDAVELS
CPPPGGGPMG PTVWVKDGTG LVPSERVLVG PQRLQVLNAS HEDSGAYSCR QRLTQRVLCH
FSVRVTDAPS SGDDEDGEDE AEDTGVDTGA PYWTRPERMD KKLLAVPAAN TVRFRCPAAG
NPTPSISWLK NGREFRGEHR IGGIKLRHQQ WSLVMESVVP SDRGNYTCVV ENKFGSIRQT
YTLDVLERSP HRPILQAGLP ANQTAVLGSD VEFHCKVYSD AQPHIQWLKH VEVNGSKVGP
DGTPYVTVLK SWISESVEAD VRLRLANVSE RDGGEYLCRA TNFIGVAEKA FWLSVHGPRA
AEEELVEADE AGSVYAGILS YGVGFFLFIL VVAAVTLCRL RSPPKKGLGS PTVHKISRFP
LKRQVSLESN ASMSSNTPLV RIARLSSGEG PTLANVSELE LPADPKWELS RARLTLGKPL
GEGCFGQVVM AEAIGIDKDR AAKPVTVAVK MLKDDATDKD LSDLVSEMEM MKMIGKHKNI
INLLGACTQG GPLYVLVEYA AKGNLREFLR ARRPPGLDYS FDTCKPPEEQ LTFKDLVSCA
YQVARGMEYL ASQKCIHRDL AARNVLVTED NVMKIADFGL ARDVHNLDYY KKTTNGRLPV
KWMAPEALFD RVYTHQSDVW SFGVLLWEIF TLGGSPYPGI PVEELFKLLK EGHRMDKPAN
CTHDLYMIMR ECWHAAPSQR PTFKQLVEDL DRVLTVTSTD EYLDLSAPFE QYSPGGQDTP
SSSSSGDDSV FAHDLLPPAP PSSGGSRT*
mutated AA sequence MGAPACALAL CVAVAIVAGA SSESLGTEQR VVGRAAEVPG PEPGQQEQLV FGSGDAVELS
CPPPGGGPMG PTVWVKDGTG LVPSERVLVG PQRLQVLNAS HEDSGAYSCR QRLTQRVLCH
FSVRVTDAPS SGDDEDGEDE AEDTGVDTGA PYWTRPERMD KKLLAVPAAN TVRFRCPAAG
NPTPSISWLK NGREFRGEHR IGGIKLRHQQ WSLVMESVVP SDRGNYTCVV ENKFGSIRQT
YTLDVLECSP HRPILQAGLP ANQTAVLGSD VEFHCKVYSD AQPHIQWLKH VEVNGSKVGP
DGTPYVTVLK SWISESVEAD VRLRLANVSE RDGGEYLCRA TNFIGVAEKA FWLSVHGPRA
AEEELVEADE AGSVYAGILS YGVGFFLFIL VVAAVTLCRL RSPPKKGLGS PTVHKISRFP
LKRQVSLESN ASMSSNTPLV RIARLSSGEG PTLANVSELE LPADPKWELS RARLTLGKPL
GEGCFGQVVM AEAIGIDKDR AAKPVTVAVK MLKDDATDKD LSDLVSEMEM MKMIGKHKNI
INLLGACTQG GPLYVLVEYA AKGNLREFLR ARRPPGLDYS FDTCKPPEEQ LTFKDLVSCA
YQVARGMEYL ASQKCIHRDL AARNVLVTED NVMKIADFGL ARDVHNLDYY KKTTNGRLPV
KWMAPEALFD RVYTHQSDVW SFGVLLWEIF TLGGSPYPGI PVEELFKLLK EGHRMDKPAN
CTHDLYMIMR ECWHAAPSQR PTFKQLVEDL DRVLTVTSTD EYLDLSAPFE QYSPGGQDTP
SSSSSGDDSV FAHDLLPPAP PSSGGSRT*
speed 1.44 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

disease causing

 Model: simple_aae, prob: 0.999999999649899 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM950469)
  • known disease mutation: rs16332 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr4:1803564C>TN/A show variant in all transcripts   IGV
HGNC symbol FGFR3
Ensembl transcript ID ENST00000440486
Genbank transcript ID NM_000142
UniProt peptide P22607
alteration type single base exchange
alteration region CDS
DNA changes c.742C>T
cDNA.998C>T
g.8531C>T
AA changes R248C Score: 180 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 248
frameshift no
known variant Reference ID: rs121913482
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs16332 (pathogenic for Short ribs|Narrow chest|Craniosynostosis syndrome|Small for gestational age|Growth delay|Short stature|Disproportionate short-limb short stature|Bell-shaped thorax|Skeletal dysplasia|Femoral bowing|Upper limb undergrowth|Lower limb undergrowth|Lethal short-limbed short stature|Bowed humerus|Transitional cell carcinoma of the bladder|Multiple myeloma|Malignant tumor of testis|Epidermal nevus|Lung adenocarcinoma|Squamous cell lung carcinoma|Carcinoma|Seborrheic keratosis|Urinary bladder cancer|Carcinoma of colon|Cancer of cervix|Achondroplasia|Hypochondroplasia|Levy-Hollister syndrome|Thanatophoric dysplasia type 1|Thanatophoric dysplasia, type 2|Squamous cell carcinoma of the head and neck|Muenke syndrome|Camptodactyly-tall stature-scoliosis-hearing loss syndrome|Crouzon syndrome with acanthosis nigricans|Severe achondroplasia with developmental delay and acanthosis nigricans|Skeletal dysplasia with acanthosis nigricans|none provided|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM950469)

known disease mutation at this position, please check HGMD for details (HGMD ID CM950469)
known disease mutation at this position, please check HGMD for details (HGMD ID CM950469)
regulatory features PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.4361
1.8231
(flanking)5.3881
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 lost8528sequence motif lost- wt: acag|AGCG
 mu: acag.AGTG
Acc marginally decreased8528wt: 0.9303 / mu: 0.9178 (marginal change - not scored)wt: GAGCGTCATCTGCCCCCACAGAGCGCTCCCCGCACCGGCCC
mu: GAGCGTCATCTGCCCCCACAGAGTGCTCCCCGCACCGGCCC		 acag|AGCG
Acc increased8540wt: 0.50 / mu: 0.60wt: CCCCCACAGAGCGCTCCCCGCACCGGCCCATCCTGCAGGCG
mu: CCCCCACAGAGTGCTCCCCGCACCGGCCCATCCTGCAGGCG		 ccgc|ACCG
Donor increased8524wt: 0.82 / mu: 0.92wt: GCCCCCACAGAGCGC
mu: GCCCCCACAGAGTGC		 CCCC|acag
distance from splice site 3
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      248IRQTYTLDVLERSPHRPILQAGLP
mutated  not conserved    248YTLDVLECSPHRPILQAGL
Ptroglodytes  all identical  ENSPTRG00000015836  248YTLDVLERSPHRPILQAGL
Mmulatta  all identical  ENSMMUG00000019945  248YTLDVLERSPHRPILQAGL
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000054252  242YTLDVLERSPHRPILQAGL
Ggallus  all identical  ENSGALG00000015708  247ERSPHRPILQAGL
Trubripes  all identical  ENSTRUG00000003670  207ISHTYQLDVLERSPHRPILQAGL
Drerio  not conserved  ENSDARG00000004782  241PLHDHSVTSVPLQTHTRICTPGV
Dmelanogaster  all identical  FBgn0010389  194VSDRVNHKPILMTG-
Celegans  all identical  F58A3.2  387AKKYFHVIIVNRMRRPPIIVPNI
Xtropicalis  all identical  ENSXETG00000002396  264DVLERSSHRPILQAGL
protein features
start (aa)end (aa)featuredetails 
23375TOPO_DOMExtracellular (Potential).lost
253355DOMAINIg-like C2-type 3.might get lost (downstream of altered splice site)
262262CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
263268STRANDmight get lost (downstream of altered splice site)
271273STRANDmight get lost (downstream of altered splice site)
275275DISULFIDBy similarity.might get lost (downstream of altered splice site)
283289STRANDmight get lost (downstream of altered splice site)
293295HELIXmight get lost (downstream of altered splice site)
294294CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
302304STRANDmight get lost (downstream of altered splice site)
315315CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
324326STRANDmight get lost (downstream of altered splice site)
328328CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
335345STRANDmight get lost (downstream of altered splice site)
339339DISULFIDBy similarity.might get lost (downstream of altered splice site)
348357STRANDmight get lost (downstream of altered splice site)
376396TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
395395CONFLICTL -> V (in Ref. 7; AAA58470).might get lost (downstream of altered splice site)
397806TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
421421CONFLICTR -> RQ (in Ref. 3; BAD92678).might get lost (downstream of altered splice site)
472761DOMAINProtein kinase.might get lost (downstream of altered splice site)
478486NP_BINDATP (By similarity).might get lost (downstream of altered splice site)
508508MUTAGENK->A: Loss of kinase activity. Abolishes ubiquitination.might get lost (downstream of altered splice site)
508508BINDINGATP (By similarity).might get lost (downstream of altered splice site)
577577MUTAGENY->F: Minor effect on kinase activity.might get lost (downstream of altered splice site)
617617ACT_SITEProton acceptor (By similarity).might get lost (downstream of altered splice site)
647647MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
648648MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
724724MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
724724MUTAGENY->F: Strongly reduced kinase activity. Strongly reduced mitogen activity.might get lost (downstream of altered splice site)
760760MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
760760MUTAGENY->F: Minor effect on kinase activity.might get lost (downstream of altered splice site)
770770MUTAGENY->F: Minor effect on kinase activity. Increased mitogen activity.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2421 / 2421
position (AA) of stopcodon in wt / mu AA sequence 807 / 807
position of stopcodon in wt / mu cDNA 2677 / 2677
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 257 / 257
chromosome 4
strand 1
last intron/exon boundary 2531
theoretical NMD boundary in CDS 2224
length of CDS 2421
coding sequence (CDS) position 742
cDNA position
(for ins/del: last normal base / first normal base)		 998
gDNA position
(for ins/del: last normal base / first normal base)		 8531
chromosomal position
(for ins/del: last normal base / first normal base)		 1803564
original gDNA sequence snippet CGTCATCTGCCCCCACAGAGCGCTCCCCGCACCGGCCCATC
altered gDNA sequence snippet CGTCATCTGCCCCCACAGAGTGCTCCCCGCACCGGCCCATC
original cDNA sequence snippet ACACGCTGGACGTGCTGGAGCGCTCCCCGCACCGGCCCATC
altered cDNA sequence snippet ACACGCTGGACGTGCTGGAGTGCTCCCCGCACCGGCCCATC
wildtype AA sequence MGAPACALAL CVAVAIVAGA SSESLGTEQR VVGRAAEVPG PEPGQQEQLV FGSGDAVELS
CPPPGGGPMG PTVWVKDGTG LVPSERVLVG PQRLQVLNAS HEDSGAYSCR QRLTQRVLCH
FSVRVTDAPS SGDDEDGEDE AEDTGVDTGA PYWTRPERMD KKLLAVPAAN TVRFRCPAAG
NPTPSISWLK NGREFRGEHR IGGIKLRHQQ WSLVMESVVP SDRGNYTCVV ENKFGSIRQT
YTLDVLERSP HRPILQAGLP ANQTAVLGSD VEFHCKVYSD AQPHIQWLKH VEVNGSKVGP
DGTPYVTVLK TAGANTTDKE LEVLSLHNVT FEDAGEYTCL AGNSIGFSHH SAWLVVLPAE
EELVEADEAG SVYAGILSYG VGFFLFILVV AAVTLCRLRS PPKKGLGSPT VHKISRFPLK
RQVSLESNAS MSSNTPLVRI ARLSSGEGPT LANVSELELP ADPKWELSRA RLTLGKPLGE
GCFGQVVMAE AIGIDKDRAA KPVTVAVKML KDDATDKDLS DLVSEMEMMK MIGKHKNIIN
LLGACTQGGP LYVLVEYAAK GNLREFLRAR RPPGLDYSFD TCKPPEEQLT FKDLVSCAYQ
VARGMEYLAS QKCIHRDLAA RNVLVTEDNV MKIADFGLAR DVHNLDYYKK TTNGRLPVKW
MAPEALFDRV YTHQSDVWSF GVLLWEIFTL GGSPYPGIPV EELFKLLKEG HRMDKPANCT
HDLYMIMREC WHAAPSQRPT FKQLVEDLDR VLTVTSTDEY LDLSAPFEQY SPGGQDTPSS
SSSGDDSVFA HDLLPPAPPS SGGSRT*
mutated AA sequence MGAPACALAL CVAVAIVAGA SSESLGTEQR VVGRAAEVPG PEPGQQEQLV FGSGDAVELS
CPPPGGGPMG PTVWVKDGTG LVPSERVLVG PQRLQVLNAS HEDSGAYSCR QRLTQRVLCH
FSVRVTDAPS SGDDEDGEDE AEDTGVDTGA PYWTRPERMD KKLLAVPAAN TVRFRCPAAG
NPTPSISWLK NGREFRGEHR IGGIKLRHQQ WSLVMESVVP SDRGNYTCVV ENKFGSIRQT
YTLDVLECSP HRPILQAGLP ANQTAVLGSD VEFHCKVYSD AQPHIQWLKH VEVNGSKVGP
DGTPYVTVLK TAGANTTDKE LEVLSLHNVT FEDAGEYTCL AGNSIGFSHH SAWLVVLPAE
EELVEADEAG SVYAGILSYG VGFFLFILVV AAVTLCRLRS PPKKGLGSPT VHKISRFPLK
RQVSLESNAS MSSNTPLVRI ARLSSGEGPT LANVSELELP ADPKWELSRA RLTLGKPLGE
GCFGQVVMAE AIGIDKDRAA KPVTVAVKML KDDATDKDLS DLVSEMEMMK MIGKHKNIIN
LLGACTQGGP LYVLVEYAAK GNLREFLRAR RPPGLDYSFD TCKPPEEQLT FKDLVSCAYQ
VARGMEYLAS QKCIHRDLAA RNVLVTEDNV MKIADFGLAR DVHNLDYYKK TTNGRLPVKW
MAPEALFDRV YTHQSDVWSF GVLLWEIFTL GGSPYPGIPV EELFKLLKEG HRMDKPANCT
HDLYMIMREC WHAAPSQRPT FKQLVEDLDR VLTVTSTDEY LDLSAPFEQY SPGGQDTPSS
SSSGDDSVFA HDLLPPAPPS SGGSRT*
speed 1.43 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

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