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 7 transcript(s)...
Querying Taster for transcript #1: ENST00000341552
Querying Taster for transcript #2: ENST00000409865
Querying Taster for transcript #3: ENST00000410037
Querying Taster for transcript #4: ENST00000295729
Querying Taster for transcript #5: ENST00000441968
Querying Taster for transcript #6: ENST00000453220
Querying Taster for transcript #7: ENST00000324264
MT speed 0 s - this script 6.007814 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
CFAP65polymorphism_automatic3.99680288865056e-15simple_aaeaffectedM55Lsingle base exchangers6736922show file
CFAP65polymorphism_automatic3.99680288865056e-15simple_aaeaffectedM66Lsingle base exchangers6736922show file
CFAP65polymorphism_automatic3.99680288865056e-15simple_aaeaffectedM66Lsingle base exchangers6736922show file
CFAP65polymorphism_automatic3.99680288865056e-15simple_aaeaffectedM66Lsingle base exchangers6736922show file
CFAP65polymorphism_automatic1.69864122767649e-14simple_aaeaffectedfirst 1 AA missingsingle base exchangers6736922show file
CFAP65polymorphism_automatic1.69864122767649e-14simple_aaeaffectedfirst 1 AA missingsingle base exchangers6736922show file
CFAP65polymorphism_automatic1.69864122767649e-14simple_aaeaffectedfirst 1 AA missingsingle base exchangers6736922show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999996 (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) chr2:219903258T>GN/A show variant in all transcripts   IGV
HGNC symbol CFAP65
Ensembl transcript ID ENST00000409865
Genbank transcript ID N/A
UniProt peptide Q6ZU64
alteration type single base exchange
alteration region CDS
DNA changes c.163A>C
cDNA.167A>C
g.2992A>C
AA changes M55L Score: 15 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 55
frameshift no
known variant Reference ID: rs6736922
databasehomozygous (G/G)heterozygousallele carriers
1000G92111102031
ExAC30220-276732547
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.590
-0.7660
(flanking)-0.1020
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased2987wt: 0.60 / mu: 0.67wt: TCCCTTTGGACTGTGTCCCAAGGACATGATGCTCACCCAGG
mu: TCCCTTTGGACTGTGTCCCAAGGACCTGATGCTCACCCAGG		 ccaa|GGAC
Donor increased2991wt: 0.24 / mu: 0.48wt: AAGGACATGATGCTC
mu: AAGGACCTGATGCTC		 GGAC|atga
distance from splice site 43
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      55QSAPFGLCPKDMMLTQAPSSVVRS
mutated  all conserved    55QSAPFGLCPKDLMLTQA
Ptroglodytes  all conserved  ENSPTRG00000012937  66QSAPFGLCPKGLMLTQAPSSIVR
Mmulatta  all conserved  ENSMMUG00000000783  66QSAPFGLCPKGLMLTQAPSSIMR
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000047021  1MLIQKNQCHITR
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000006863  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000013869  n/a
protein features
start (aa)end (aa)featuredetails 
129129CONFLICTH -> R (in Ref. 1; BAC86878).might get lost (downstream of altered splice site)
188208TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
320320CONFLICTT -> A (in Ref. 1; BAC86878).might get lost (downstream of altered splice site)
665665CONFLICTG -> W (in Ref. 1; BAC86878).might get lost (downstream of altered splice site)
877986DOMAINMSP.might get lost (downstream of altered splice site)
15251550COILEDPotential.might get lost (downstream of altered splice site)
15741574MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
17611848COMPBIASGlu-rich.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2355 / 2355
position (AA) of stopcodon in wt / mu AA sequence 785 / 785
position of stopcodon in wt / mu cDNA 2359 / 2359
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 5 / 5
chromosome 2
strand -1
last intron/exon boundary 1823
theoretical NMD boundary in CDS 1768
length of CDS 2355
coding sequence (CDS) position 163
cDNA position
(for ins/del: last normal base / first normal base)		 167
gDNA position
(for ins/del: last normal base / first normal base)		 2992
chromosomal position
(for ins/del: last normal base / first normal base)		 219903258
original gDNA sequence snippet TTGGACTGTGTCCCAAGGACATGATGCTCACCCAGGCTCCA
altered gDNA sequence snippet TTGGACTGTGTCCCAAGGACCTGATGCTCACCCAGGCTCCA
original cDNA sequence snippet TTGGACTGTGTCCCAAGGACATGATGCTCACCCAGGCTCCA
altered cDNA sequence snippet TTGGACTGTGTCCCAAGGACCTGATGCTCACCCAGGCTCCA
wildtype AA sequence METAIWRRSY ISLISSERPV HNWRGKSVQK KQAESKSQIK LHTQSAPFGL CPKDMMLTQA
PSSVVRSRNS RNHTVNSGGS CLSASTVAIP AINDSSAAMS ACSTISAQPA SSMDTQMHSP
KKQERVNKRV IWGIEVAEEL HWKGWELGKE TTRNLVLKNR SLKLQKMKYR PPKTKFFFTV
IPQPIFLSPG ITLTLPIVFR PLEAKEYMDQ LWFEKAEGMF CVGLRATLPC HRLICRPPSL
QLPMCAVGDT TEAFFCLDNV GDLPTFFTWE FSSPFQMLPA TGLLEPGQAS QIKVTFQPLT
AVIYEVQATC WYGAGSRQRS SIQLQAVAKC AQLLVSIKHK CPEDQDAEGF QKLLYFGSVA
VGCTSERQIR LHNPSAVNAP FRIEISPDEL AEDQAFSCPT AHGIVLPGEK KCVSVFFHPK
TLDTRTVDYC SIMPSGCASK TLLKVVGFCR GPAVSLQHYC VNFSWVNLGE RSEQPLWIEN
QSDCTAHFQF AIDCLESVFT IRPAFGTLVG KARMTLHCAF QPTHPIICFR RVACLIHHQD
PLFLDLMGTC HSDSTKPAIL KPQHLTWYRT HLARGLTLYP PDILDAMLKE KKLAQDQNGA
LMIPIQDLED MPAPQYPYIP PMTEFFFDGT SDITIFPPPI SVEPVEVDFG ACPGPEAPNP
VPLCLMNHTK GKIMVVWTRR SDCPFWVTPE SCDVPPLKSM AMRLHFQPPH PNCLYTVELE
AFAIYKVCAR NEREECGVSA RSLSGLVGWQ EVTEGSFRLH PLRARLSLGW TVTPMSLSPP
KLLA*
mutated AA sequence METAIWRRSY ISLISSERPV HNWRGKSVQK KQAESKSQIK LHTQSAPFGL CPKDLMLTQA
PSSVVRSRNS RNHTVNSGGS CLSASTVAIP AINDSSAAMS ACSTISAQPA SSMDTQMHSP
KKQERVNKRV IWGIEVAEEL HWKGWELGKE TTRNLVLKNR SLKLQKMKYR PPKTKFFFTV
IPQPIFLSPG ITLTLPIVFR PLEAKEYMDQ LWFEKAEGMF CVGLRATLPC HRLICRPPSL
QLPMCAVGDT TEAFFCLDNV GDLPTFFTWE FSSPFQMLPA TGLLEPGQAS QIKVTFQPLT
AVIYEVQATC WYGAGSRQRS SIQLQAVAKC AQLLVSIKHK CPEDQDAEGF QKLLYFGSVA
VGCTSERQIR LHNPSAVNAP FRIEISPDEL AEDQAFSCPT AHGIVLPGEK KCVSVFFHPK
TLDTRTVDYC SIMPSGCASK TLLKVVGFCR GPAVSLQHYC VNFSWVNLGE RSEQPLWIEN
QSDCTAHFQF AIDCLESVFT IRPAFGTLVG KARMTLHCAF QPTHPIICFR RVACLIHHQD
PLFLDLMGTC HSDSTKPAIL KPQHLTWYRT HLARGLTLYP PDILDAMLKE KKLAQDQNGA
LMIPIQDLED MPAPQYPYIP PMTEFFFDGT SDITIFPPPI SVEPVEVDFG ACPGPEAPNP
VPLCLMNHTK GKIMVVWTRR SDCPFWVTPE SCDVPPLKSM AMRLHFQPPH PNCLYTVELE
AFAIYKVCAR NEREECGVSA RSLSGLVGWQ EVTEGSFRLH PLRARLSLGW TVTPMSLSPP
KLLA*
speed 0.16 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: 0.999999999999996 (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) chr2:219903258T>GN/A show variant in all transcripts   IGV
HGNC symbol CFAP65
Ensembl transcript ID ENST00000341552
Genbank transcript ID NM_194302
UniProt peptide Q6ZU64
alteration type single base exchange
alteration region CDS
DNA changes c.196A>C
cDNA.280A>C
g.2992A>C
AA changes M66L Score: 15 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 66
frameshift no
known variant Reference ID: rs6736922
databasehomozygous (G/G)heterozygousallele carriers
1000G92111102031
ExAC30220-276732547
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.590
-0.7660
(flanking)-0.1020
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased2987wt: 0.60 / mu: 0.67wt: TCCCTTTGGACTGTGTCCCAAGGACATGATGCTCACCCAGG
mu: TCCCTTTGGACTGTGTCCCAAGGACCTGATGCTCACCCAGG		 ccaa|GGAC
Donor increased2991wt: 0.24 / mu: 0.48wt: AAGGACATGATGCTC
mu: AAGGACCTGATGCTC		 GGAC|atga
distance from splice site 43
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      66QSAPFGLCPKDMMLTQAPSSVVRS
mutated  all conserved    66LCPKDLMLTQAPSSVVR
Ptroglodytes  all conserved  ENSPTRG00000012937  66LCPKGLMLTQAPSSIVR
Mmulatta  all conserved  ENSMMUG00000000783  66LCPKGLMLTQAPSSIMR
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000047021  1MLIQKNQCHITR
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000006863  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000013869  n/a
protein features
start (aa)end (aa)featuredetails 
129129CONFLICTH -> R (in Ref. 1; BAC86878).might get lost (downstream of altered splice site)
188208TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
320320CONFLICTT -> A (in Ref. 1; BAC86878).might get lost (downstream of altered splice site)
665665CONFLICTG -> W (in Ref. 1; BAC86878).might get lost (downstream of altered splice site)
877986DOMAINMSP.might get lost (downstream of altered splice site)
15251550COILEDPotential.might get lost (downstream of altered splice site)
15741574MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
17611848COMPBIASGlu-rich.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 5778 / 5778
position (AA) of stopcodon in wt / mu AA sequence 1926 / 1926
position of stopcodon in wt / mu cDNA 5862 / 5862
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 85 / 85
chromosome 2
strand -1
last intron/exon boundary 5778
theoretical NMD boundary in CDS 5643
length of CDS 5778
coding sequence (CDS) position 196
cDNA position
(for ins/del: last normal base / first normal base)		 280
gDNA position
(for ins/del: last normal base / first normal base)		 2992
chromosomal position
(for ins/del: last normal base / first normal base)		 219903258
original gDNA sequence snippet TTGGACTGTGTCCCAAGGACATGATGCTCACCCAGGCTCCA
altered gDNA sequence snippet TTGGACTGTGTCCCAAGGACCTGATGCTCACCCAGGCTCCA
original cDNA sequence snippet TTGGACTGTGTCCCAAGGACATGATGCTCACCCAGGCTCCA
altered cDNA sequence snippet TTGGACTGTGTCCCAAGGACCTGATGCTCACCCAGGCTCCA
wildtype AA sequence MFTLTGCRLV EKTQKVENPS VSFASSFPLI PLLLRGKSVQ KKQAESKSQI KLHTQSAPFG
LCPKDMMLTQ APSSVVRSRN SRNHTVNSGG SCLSASTVAI PAINDSSAAM SACSTISAQP
ASSMDTQMHS PKKQERVNKR VIWGIEVAEE LHWKGWELGK ETTRNLVLKN RSLKLQKMKY
RPPKTKFFFT VIPQPIFLSP GITLTLPIVF RPLEAKEYMD QLWFEKAEGM FCVGLRATLP
CHRLICRPPS LQLPMCAVGD TTEAFFCLDN VGDLPTFFTW EFSSPFQMLP ATGLLEPGQA
SQIKVTFQPL TAVIYEVQAT CWYGAGSRQR SSIQLQAVAK CAQLLVSIKH KCPEDQDAEG
FQKLLYFGSV AVGCTSERQI RLHNPSAVNA PFRIEISPDE LAEDQAFSCP TAHGIVLPGE
KKCVSVFFHP KTLDTRTVDY CSIMPSGCAS KTLLKVVGFC RGPAVSLQHY CVNFSWVNLG
ERSEQPLWIE NQSDCTAHFQ FAIDCLESVF TIRPAFGTLV GKARMTLHCA FQPTHPIICF
RRVACLIHHQ DPLFLDLMGT CHSDSTKPAI LKPQHLTWYR THLARGLTLY PPDILDAMLK
EKKLAQDQNG ALMIPIQDLE DMPAPQYPYI PPMTEFFFDG TSDITIFPPP ISVEPVEVDF
GACPGPEAPN PVPLCLMNHT KGKIMVVWTR RSDCPFWVTP ESCDVPPLKS MAMRLHFQPP
HPNCLYTVEL EAFAIYKVLQ SYSNIEEDCT MCPSWCLTVR ARGHSYFAGF EHHIPQYSLD
VPKLFPAVSS GEPTYRSLLL VNKDCKLLTF SLAPQRGSDV ILRPTSGLVA PGAHQIILIC
TYPEGSSWKQ HTFYLQCNAS PQYLKEVSMY SREEPLQLKL DTHKSLYFKP TWVGCSSTSP
FTFRNPSRLP LQFEWRVSEQ HRKLLAVQPS RGLIQPNERL TLTWTFSPLE ETKYLFQVGM
WVWEAGLSPN ANPAATTHYM LRLVGVGLTS SLSAKEKELA FGNVLVNSKQ SRFLVLLNDG
NCTLYYRLYL EQGSPEAVDN HPLALQLDRT EGSMPPRSQD TICLTACPKQ RSQYSWTITY
SLLSHRDNKA GEKQELCCVS LVAVYPLLSI LDVSSMGSAE GITRKHLWRL FSLDLLNSYL
ERDPTPCELT YKVPTRHSMS QIPPVLTPLR LDFNFGAAPF KAPPSVVFLA LKNSGVVSLD
WAFLLPSDQR IDVELWAEQA ELNSTELHQM RVQDNCLFSI SPKAGSLSPG QEQMVELKYS
HLFIGTDHLP VLFKVSHGRE ILLNFIGVTV KPEQKYVHFT STTHQFIPIP IGDTLPPRQI
YELYNGGSVP VTYEVQTDVL SQVQEKNFDH PIFCCLNPKG EIQPGSTARV LWIFSPIEAK
TYTVDVPIHI LGWNSALIHF QGVGYNPHMM GDTAPFHNIS SWDNSSIHSR LVVPGQNVFL
SQSHISLGNI PVQSKCSRLL FLNNISKNEE IAFSWQPSPL DFGEVSVSPM IGVVAPEETV
PFVVTLRASV HASFYSADLV CKLYSQQLMR QYHKELQEWK DEKVRQEVEF TITDMKVKKR
TCCTACEPAR KYKTLPPIKN QQSVSRPASW KLQTPKEEVS WPCPQPPSPG MLCLGLTARA
HATDYFLANF FSEFPCHFLH RELPKRKAPR EESETSEEKS PNKWGPVSKQ KKQLLVDILT
TIIRGLLEDK NFHEAVDQSL VEQVPYFRQF WNEQSTKFMD QKNSLYLMPI LPVPSSSWED
GKGKQPKEDR PEHYPGLGKK EEGEEEKGEE EEEELEEEEE EEEETEEEEL GKEEIEEKEE
ERDEKEEKVS WAGIGPTPQP ESQESMQWQW QQQLNVMVKE EQEQDEKEAI RRLPAFANLQ
EALLENMIQN ILVEASRGEV VLTSRPRVIA LPPFCVPRSL TPDTLLPTQQ AEVLHPVVPL
PTDLP*
mutated AA sequence MFTLTGCRLV EKTQKVENPS VSFASSFPLI PLLLRGKSVQ KKQAESKSQI KLHTQSAPFG
LCPKDLMLTQ APSSVVRSRN SRNHTVNSGG SCLSASTVAI PAINDSSAAM SACSTISAQP
ASSMDTQMHS PKKQERVNKR VIWGIEVAEE LHWKGWELGK ETTRNLVLKN RSLKLQKMKY
RPPKTKFFFT VIPQPIFLSP GITLTLPIVF RPLEAKEYMD QLWFEKAEGM FCVGLRATLP
CHRLICRPPS LQLPMCAVGD TTEAFFCLDN VGDLPTFFTW EFSSPFQMLP ATGLLEPGQA
SQIKVTFQPL TAVIYEVQAT CWYGAGSRQR SSIQLQAVAK CAQLLVSIKH KCPEDQDAEG
FQKLLYFGSV AVGCTSERQI RLHNPSAVNA PFRIEISPDE LAEDQAFSCP TAHGIVLPGE
KKCVSVFFHP KTLDTRTVDY CSIMPSGCAS KTLLKVVGFC RGPAVSLQHY CVNFSWVNLG
ERSEQPLWIE NQSDCTAHFQ FAIDCLESVF TIRPAFGTLV GKARMTLHCA FQPTHPIICF
RRVACLIHHQ DPLFLDLMGT CHSDSTKPAI LKPQHLTWYR THLARGLTLY PPDILDAMLK
EKKLAQDQNG ALMIPIQDLE DMPAPQYPYI PPMTEFFFDG TSDITIFPPP ISVEPVEVDF
GACPGPEAPN PVPLCLMNHT KGKIMVVWTR RSDCPFWVTP ESCDVPPLKS MAMRLHFQPP
HPNCLYTVEL EAFAIYKVLQ SYSNIEEDCT MCPSWCLTVR ARGHSYFAGF EHHIPQYSLD
VPKLFPAVSS GEPTYRSLLL VNKDCKLLTF SLAPQRGSDV ILRPTSGLVA PGAHQIILIC
TYPEGSSWKQ HTFYLQCNAS PQYLKEVSMY SREEPLQLKL DTHKSLYFKP TWVGCSSTSP
FTFRNPSRLP LQFEWRVSEQ HRKLLAVQPS RGLIQPNERL TLTWTFSPLE ETKYLFQVGM
WVWEAGLSPN ANPAATTHYM LRLVGVGLTS SLSAKEKELA FGNVLVNSKQ SRFLVLLNDG
NCTLYYRLYL EQGSPEAVDN HPLALQLDRT EGSMPPRSQD TICLTACPKQ RSQYSWTITY
SLLSHRDNKA GEKQELCCVS LVAVYPLLSI LDVSSMGSAE GITRKHLWRL FSLDLLNSYL
ERDPTPCELT YKVPTRHSMS QIPPVLTPLR LDFNFGAAPF KAPPSVVFLA LKNSGVVSLD
WAFLLPSDQR IDVELWAEQA ELNSTELHQM RVQDNCLFSI SPKAGSLSPG QEQMVELKYS
HLFIGTDHLP VLFKVSHGRE ILLNFIGVTV KPEQKYVHFT STTHQFIPIP IGDTLPPRQI
YELYNGGSVP VTYEVQTDVL SQVQEKNFDH PIFCCLNPKG EIQPGSTARV LWIFSPIEAK
TYTVDVPIHI LGWNSALIHF QGVGYNPHMM GDTAPFHNIS SWDNSSIHSR LVVPGQNVFL
SQSHISLGNI PVQSKCSRLL FLNNISKNEE IAFSWQPSPL DFGEVSVSPM IGVVAPEETV
PFVVTLRASV HASFYSADLV CKLYSQQLMR QYHKELQEWK DEKVRQEVEF TITDMKVKKR
TCCTACEPAR KYKTLPPIKN QQSVSRPASW KLQTPKEEVS WPCPQPPSPG MLCLGLTARA
HATDYFLANF FSEFPCHFLH RELPKRKAPR EESETSEEKS PNKWGPVSKQ KKQLLVDILT
TIIRGLLEDK NFHEAVDQSL VEQVPYFRQF WNEQSTKFMD QKNSLYLMPI LPVPSSSWED
GKGKQPKEDR PEHYPGLGKK EEGEEEKGEE EEEELEEEEE EEEETEEEEL GKEEIEEKEE
ERDEKEEKVS WAGIGPTPQP ESQESMQWQW QQQLNVMVKE EQEQDEKEAI RRLPAFANLQ
EALLENMIQN ILVEASRGEV VLTSRPRVIA LPPFCVPRSL TPDTLLPTQQ AEVLHPVVPL
PTDLP*
speed 1.16 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: 0.999999999999996 (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) chr2:219903258T>GN/A show variant in all transcripts   IGV
HGNC symbol CFAP65
Ensembl transcript ID ENST00000441968
Genbank transcript ID N/A
UniProt peptide Q6ZU64
alteration type single base exchange
alteration region CDS
DNA changes c.196A>C
cDNA.280A>C
g.2992A>C
AA changes M66L Score: 15 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 66
frameshift no
known variant Reference ID: rs6736922
databasehomozygous (G/G)heterozygousallele carriers
1000G92111102031
ExAC30220-276732547
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.590
-0.7660
(flanking)-0.1020
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased2987wt: 0.60 / mu: 0.67wt: TCCCTTTGGACTGTGTCCCAAGGACATGATGCTCACCCAGG
mu: TCCCTTTGGACTGTGTCCCAAGGACCTGATGCTCACCCAGG		 ccaa|GGAC
Donor increased2991wt: 0.24 / mu: 0.48wt: AAGGACATGATGCTC
mu: AAGGACCTGATGCTC		 GGAC|atga
distance from splice site 43
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      66QSAPFGLCPKDMMLTQAPSSVVRS
mutated  all conserved    66LCPKDLMLTQAPSSVVR
Ptroglodytes  all conserved  ENSPTRG00000012937  66LCPKGLMLTQAPSSIVR
Mmulatta  all conserved  ENSMMUG00000000783  66LCPKGLMLTQAPSSIMR
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000047021  1MLIQKNQCHITR
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000006863  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000013869  n/a
protein features
start (aa)end (aa)featuredetails 
129129CONFLICTH -> R (in Ref. 1; BAC86878).might get lost (downstream of altered splice site)
188208TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
320320CONFLICTT -> A (in Ref. 1; BAC86878).might get lost (downstream of altered splice site)
665665CONFLICTG -> W (in Ref. 1; BAC86878).might get lost (downstream of altered splice site)
877986DOMAINMSP.might get lost (downstream of altered splice site)
15251550COILEDPotential.might get lost (downstream of altered splice site)
15741574MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
17611848COMPBIASGlu-rich.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 5778 / 5778
position (AA) of stopcodon in wt / mu AA sequence 1926 / 1926
position of stopcodon in wt / mu cDNA 5862 / 5862
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 85 / 85
chromosome 2
strand -1
last intron/exon boundary 5778
theoretical NMD boundary in CDS 5643
length of CDS 5778
coding sequence (CDS) position 196
cDNA position
(for ins/del: last normal base / first normal base)		 280
gDNA position
(for ins/del: last normal base / first normal base)		 2992
chromosomal position
(for ins/del: last normal base / first normal base)		 219903258
original gDNA sequence snippet TTGGACTGTGTCCCAAGGACATGATGCTCACCCAGGCTCCA
altered gDNA sequence snippet TTGGACTGTGTCCCAAGGACCTGATGCTCACCCAGGCTCCA
original cDNA sequence snippet TTGGACTGTGTCCCAAGGACATGATGCTCACCCAGGCTCCA
altered cDNA sequence snippet TTGGACTGTGTCCCAAGGACCTGATGCTCACCCAGGCTCCA
wildtype AA sequence MFTLTGCRLV EKTQKVENPS VSFASSFPLI PLLLRGKSVQ KKQAESKSQI KLHTQSAPFG
LCPKDMMLTQ APSSVVRSRN SRNHTVNSGG SCLSASTVAI PAINDSSAAM SACSTISAQP
ASSMDTQMHS PKKQERVNKR VIWGIEVAEE LHWKGWELGK ETTRNLVLKN RSLKLQKMKY
RPPKTKFFFT VIPQPIFLSP GITLTLPIVF RPLEAKEYMD QLWFEKAEGM FCVGLRATLP
CHRLICRPPS LQLPMCAVGD TTEAFFCLDN VGDLPTFFTW EFSSPFQMLP ATGLLEPGQA
SQIKVTFQPL TAVIYEVQAT CWYGAGSRQR SSIQLQAVAK CAQLLVSIKH KCPEDQDAEG
FQKLLYFGSV AVGCTSERQI RLHNPSAVNA PFRIEISPDE LAEDQAFSCP TAHGIVLPGE
KKCVSVFFHP KTLDTRTVDY CSIMPSGCAS KTLLKVVGFC RGPAVSLQHY CVNFSWVNLG
ERSEQPLWIE NQSDCTAHFQ FAIDCLESVF TIRPAFGTLV GKARMTLHCA FQPTHPIICF
RRVACLIHHQ DPLFLDLMGT CHSDSTKPAI LKPQHLTWYR THLARGLTLY PPDILDAMLK
EKKLAQDQNG ALMIPIQDLE DMPAPQYPYI PPMTEFFFDG TSDITIFPPP ISVEPVEVDF
GACPGPEAPN PVPLCLMNHT KGKIMVVWTR RSDCPFWVTP ESCDVPPLKS MAMRLHFQPP
HPNCLYTVEL EAFAIYKVLQ SYSNIEEDCT MCPSWCLTVR ARGHSYFAGF EHHIPQYSLD
VPKLFPAVSS GEPTYRSLLL VNKDCKLLTF SLAPQRGSDV ILRPTSGLVA PGAHQIILIC
TYPEGSSWKQ HTFYLQCNAS PQYLKEVSMY SREEPLQLKL DTHKSLYFKP TWVGCSSTSP
FTFRNPSRLP LQFEWRVSEQ HRKLLAVQPS RGLIQPNERL TLTWTFSPLE ETKYLFQVGM
WVWEAGLSPN ANPAATTHYM LRLVGVGLTS SLSAKEKELA FGNVLVNSKQ SRFLVLLNDG
NCTLYYRLYL EQGSPEAVDN HPLALQLDRT EGSMPPRSQD TICLTACPKQ RSQYSWTITY
SLLSHRDNKA GEKQELCCVS LVAVYPLLSI LDVSSMGSAE GITRKHLWRL FSLDLLNSYL
ERDPTPCELT YKVPTRHSMS QIPPVLTPLR LDFNFGAAPF KAPPSVVFLA LKNSGVVSLD
WAFLLPSDQR IDVELWAEQA ELNSTELHQM RVQDNCLFSI SPKAGSLSPG QEQMVELKYS
HLFIGTDHLP VLFKVSHGRE ILLNFIGVTV KPEQKYVHFT STTHQFIPIP IGDTLPPRQI
YELYNGGSVP VTYEVQTDVL SQVQEKNFDH PIFCCLNPKG EIQPGSTARV LWIFSPIEAK
TYTVDVPIHI LGWNSALIHF QGVGYNPHMM GDTAPFHNIS SWDNSSIHSR LVVPGQNVFL
SQSHISLGNI PVQSKCSRLL FLNNISKNEE IAFSWQPSPL DFGEVSVSPM IGVVAPEETV
PFVVTLRASV HASFYSADLV CKLYSQQLMR QYHKELQEWK DEKVRQEVEF TITDMKVKKR
TCCTACEPAR KYKTLPPIKN QQSVSRPASW KLQTPKEEVS WPCPQPPSPG MLCLGLTARA
HATDYFLANF FSEFPCHFLH RELPKRKAPR EESETSEEKS PNKWGPVSKQ KKQLLVDILT
TIIRGLLEDK NFHEAVDQSL VEQVPYFRQF WNEQSTKFMD QKNSLYLMPI LPVPSSSWED
GKGKQPKEDR PEHYPGLGKK EEGEEEKGEE EEEELEEEEE EEEETEEEEL GKEEIEEKEE
ERDEKEEKVS WAGIGPTPQP ESQESMQWQW QQQLNVMVKE EQEQDEKEAI RRLPAFANLQ
EALLENMIQN ILVEASRGEV VLTSRPRVIA LPPFCVPRSL TPDTLLPTQQ AEVLHPVVPL
PTDLP*
mutated AA sequence MFTLTGCRLV EKTQKVENPS VSFASSFPLI PLLLRGKSVQ KKQAESKSQI KLHTQSAPFG
LCPKDLMLTQ APSSVVRSRN SRNHTVNSGG SCLSASTVAI PAINDSSAAM SACSTISAQP
ASSMDTQMHS PKKQERVNKR VIWGIEVAEE LHWKGWELGK ETTRNLVLKN RSLKLQKMKY
RPPKTKFFFT VIPQPIFLSP GITLTLPIVF RPLEAKEYMD QLWFEKAEGM FCVGLRATLP
CHRLICRPPS LQLPMCAVGD TTEAFFCLDN VGDLPTFFTW EFSSPFQMLP ATGLLEPGQA
SQIKVTFQPL TAVIYEVQAT CWYGAGSRQR SSIQLQAVAK CAQLLVSIKH KCPEDQDAEG
FQKLLYFGSV AVGCTSERQI RLHNPSAVNA PFRIEISPDE LAEDQAFSCP TAHGIVLPGE
KKCVSVFFHP KTLDTRTVDY CSIMPSGCAS KTLLKVVGFC RGPAVSLQHY CVNFSWVNLG
ERSEQPLWIE NQSDCTAHFQ FAIDCLESVF TIRPAFGTLV GKARMTLHCA FQPTHPIICF
RRVACLIHHQ DPLFLDLMGT CHSDSTKPAI LKPQHLTWYR THLARGLTLY PPDILDAMLK
EKKLAQDQNG ALMIPIQDLE DMPAPQYPYI PPMTEFFFDG TSDITIFPPP ISVEPVEVDF
GACPGPEAPN PVPLCLMNHT KGKIMVVWTR RSDCPFWVTP ESCDVPPLKS MAMRLHFQPP
HPNCLYTVEL EAFAIYKVLQ SYSNIEEDCT MCPSWCLTVR ARGHSYFAGF EHHIPQYSLD
VPKLFPAVSS GEPTYRSLLL VNKDCKLLTF SLAPQRGSDV ILRPTSGLVA PGAHQIILIC
TYPEGSSWKQ HTFYLQCNAS PQYLKEVSMY SREEPLQLKL DTHKSLYFKP TWVGCSSTSP
FTFRNPSRLP LQFEWRVSEQ HRKLLAVQPS RGLIQPNERL TLTWTFSPLE ETKYLFQVGM
WVWEAGLSPN ANPAATTHYM LRLVGVGLTS SLSAKEKELA FGNVLVNSKQ SRFLVLLNDG
NCTLYYRLYL EQGSPEAVDN HPLALQLDRT EGSMPPRSQD TICLTACPKQ RSQYSWTITY
SLLSHRDNKA GEKQELCCVS LVAVYPLLSI LDVSSMGSAE GITRKHLWRL FSLDLLNSYL
ERDPTPCELT YKVPTRHSMS QIPPVLTPLR LDFNFGAAPF KAPPSVVFLA LKNSGVVSLD
WAFLLPSDQR IDVELWAEQA ELNSTELHQM RVQDNCLFSI SPKAGSLSPG QEQMVELKYS
HLFIGTDHLP VLFKVSHGRE ILLNFIGVTV KPEQKYVHFT STTHQFIPIP IGDTLPPRQI
YELYNGGSVP VTYEVQTDVL SQVQEKNFDH PIFCCLNPKG EIQPGSTARV LWIFSPIEAK
TYTVDVPIHI LGWNSALIHF QGVGYNPHMM GDTAPFHNIS SWDNSSIHSR LVVPGQNVFL
SQSHISLGNI PVQSKCSRLL FLNNISKNEE IAFSWQPSPL DFGEVSVSPM IGVVAPEETV
PFVVTLRASV HASFYSADLV CKLYSQQLMR QYHKELQEWK DEKVRQEVEF TITDMKVKKR
TCCTACEPAR KYKTLPPIKN QQSVSRPASW KLQTPKEEVS WPCPQPPSPG MLCLGLTARA
HATDYFLANF FSEFPCHFLH RELPKRKAPR EESETSEEKS PNKWGPVSKQ KKQLLVDILT
TIIRGLLEDK NFHEAVDQSL VEQVPYFRQF WNEQSTKFMD QKNSLYLMPI LPVPSSSWED
GKGKQPKEDR PEHYPGLGKK EEGEEEKGEE EEEELEEEEE EEEETEEEEL GKEEIEEKEE
ERDEKEEKVS WAGIGPTPQP ESQESMQWQW QQQLNVMVKE EQEQDEKEAI RRLPAFANLQ
EALLENMIQN ILVEASRGEV VLTSRPRVIA LPPFCVPRSL TPDTLLPTQQ AEVLHPVVPL
PTDLP*
speed 0.20 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: 0.999999999999996 (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) chr2:219903258T>GN/A show variant in all transcripts   IGV
HGNC symbol CFAP65
Ensembl transcript ID ENST00000453220
Genbank transcript ID N/A
UniProt peptide Q6ZU64
alteration type single base exchange
alteration region CDS
DNA changes c.196A>C
cDNA.205A>C
g.2992A>C
AA changes M66L Score: 15 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 66
frameshift no
known variant Reference ID: rs6736922
databasehomozygous (G/G)heterozygousallele carriers
1000G92111102031
ExAC30220-276732547
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.590
-0.7660
(flanking)-0.1020
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased2987wt: 0.60 / mu: 0.67wt: TCCCTTTGGACTGTGTCCCAAGGACATGATGCTCACCCAGG
mu: TCCCTTTGGACTGTGTCCCAAGGACCTGATGCTCACCCAGG		 ccaa|GGAC
Donor increased2991wt: 0.24 / mu: 0.48wt: AAGGACATGATGCTC
mu: AAGGACCTGATGCTC		 GGAC|atga
distance from splice site 43
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      66QSAPFGLCPKDMMLTQAPSSVVRS
mutated  all conserved    66LCPKDLMLTQAPSSVVR
Ptroglodytes  all conserved  ENSPTRG00000012937  66LCPKGLMLTQAPSSIVR
Mmulatta  all conserved  ENSMMUG00000000783  66LCPKGLMLTQAPSSIMR
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000047021  1MLIQKNQCHITR
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000006863  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000013869  n/a
protein features
start (aa)end (aa)featuredetails 
129129CONFLICTH -> R (in Ref. 1; BAC86878).might get lost (downstream of altered splice site)
188208TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
320320CONFLICTT -> A (in Ref. 1; BAC86878).might get lost (downstream of altered splice site)
665665CONFLICTG -> W (in Ref. 1; BAC86878).might get lost (downstream of altered splice site)
877986DOMAINMSP.might get lost (downstream of altered splice site)
15251550COILEDPotential.might get lost (downstream of altered splice site)
15741574MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
17611848COMPBIASGlu-rich.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 5778 / 5778
position (AA) of stopcodon in wt / mu AA sequence 1926 / 1926
position of stopcodon in wt / mu cDNA 5787 / 5787
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 10 / 10
chromosome 2
strand -1
last intron/exon boundary 5703
theoretical NMD boundary in CDS 5643
length of CDS 5778
coding sequence (CDS) position 196
cDNA position
(for ins/del: last normal base / first normal base)		 205
gDNA position
(for ins/del: last normal base / first normal base)		 2992
chromosomal position
(for ins/del: last normal base / first normal base)		 219903258
original gDNA sequence snippet TTGGACTGTGTCCCAAGGACATGATGCTCACCCAGGCTCCA
altered gDNA sequence snippet TTGGACTGTGTCCCAAGGACCTGATGCTCACCCAGGCTCCA
original cDNA sequence snippet TTGGACTGTGTCCCAAGGACATGATGCTCACCCAGGCTCCA
altered cDNA sequence snippet TTGGACTGTGTCCCAAGGACCTGATGCTCACCCAGGCTCCA
wildtype AA sequence MFTLTGCRLV EKTQKVENPS VSFASSFPLI PLLLRGKSVQ KKQAESKSQI KLHTQSAPFG
LCPKDMMLTQ APSSVVRSRN SRNHTVNSGG SCLSASTVAI PAINDSSAAM SACSTISAQP
ASSMDTQMHS PKKQERVNKR VIWGIEVAEE LHWKGWELGK ETTRNLVLKN RSLKLQKMKY
RPPKTKFFFT VIPQPIFLSP GITLTLPIVF RPLEAKEYMD QLWFEKAEGM FCVGLRATLP
CHRLICRPPS LQLPMCAVGD TTEAFFCLDN VGDLPTFFTW EFSSPFQMLP ATGLLEPGQA
SQIKVTFQPL TAVIYEVQAT CWYGAGSRQR SSIQLQAVAK CAQLLVSIKH KCPEDQDAEG
FQKLLYFGSV AVGCTSERQI RLHNPSAVNA PFRIEISPDE LAEDQAFSCP TAHGIVLPGE
KKCVSVFFHP KTLDTRTVDY CSIMPSGCAS KTLLKVVGFC RGPAVSLQHY CVNFSWVNLG
ERSEQPLWIE NQSDCTAHFQ FAIDCLESVF TIRPAFGTLV GKARMTLHCA FQPTHPIICF
RRVACLIHHQ DPLFLDLMGT CHSDSTKPAI LKPQHLTWYR THLARGLTLY PPDILDAMLK
EKKLAQDQNG ALMIPIQDLE DMPAPQYPYI PPMTEFFFDG TSDITIFPPP ISVEPVEVDF
GACPGPEAPN PVPLCLMNHT KGKIMVVWTR RSDCPFWVTP ESCDVPPLKS MAMRLHFQPP
HPNCLYTVEL EAFAIYKVLQ SYSNIEEDCT MCPSWCLTVR ARGHSYFAGF EHHIPQYSLD
VPKLFPAVSS GEPTYRSLLL VNKDCKLLTF SLAPQRGSDV ILRPTSGLVA PGAHQIILIC
TYPEGSSWKQ HTFYLQCNAS PQYLKEVSMY SREEPLQLKL DTHKSLYFKP TWVGCSSTSP
FTFRNPSRLP LQFEWRVSEQ HRKLLAVQPS RGLIQPNERL TLTWTFSPLE ETKYLFQVGM
WVWEAGLSPN ANPAATTHYM LRLVGVGLTS SLSAKEKELA FGNVLVNSKQ SRFLVLLNDG
NCTLYYRLYL EQGSPEAVDN HPLALQLDRT EGSMPPRSQD TICLTACPKQ RSQYSWTITY
SLLSHRDNKA GEKQELCCVS LVAVYPLLSI LDVSSMGSAE GITRKHLWRL FSLDLLNSYL
ERDPTPCELT YKVPTRHSMS QIPPVLTPLR LDFNFGAAPF KAPPSVVFLA LKNSGVVSLD
WAFLLPSDQR IDVELWAEQA ELNSTELHQM RVQDNCLFSI SPKAGSLSPG QEQMVELKYS
HLFIGTDHLP VLFKVSHGRE ILLNFIGVTV KPEQKYVHFT STTHQFIPIP IGDTLPPRQI
YELYNGGSVP VTYEVQTDVL SQVQEKNFDH PIFCCLNPKG EIQPGSTARV LWIFSPIEAK
TYTVDVPIHI LGWNSALIHF QGVGYNPHMM GDTAPFHNIS SWDNSSIHSR LVVPGQNVFL
SQSHISLGNI PVQSKCSRLL FLNNISKNEE IAFSWQPSPL DFGEVSVSPM IGVVAPEETV
PFVVTLRASV HASFYSADLV CKLYSQQLMR QYHKELQEWK DEKVRQEVEF TITDMKVKKR
TCCTACEPAR KYKTLPPIKN QQSVSRPASW KLQTPKEEVS WPCPQPPSPG MLCLGLTARA
HATDYFLANF FSEFPCHFLH RELPKRKAPR EESETSEEKS PNKWGPVSKQ KKQLLVDILT
TIIRGLLEDK NFHEAVDQSL VEQVPYFRQF WNEQSTKFMD QKNSLYLMPI LPVPSSSWED
GKGKQPKEDR PEHYPGLGKK EEGEEEKGEE EEEELEEEEE EEEETEEEEL GKEEIEEKEE
ERDEKEEKVS WAGIGPTPQP ESQESMQWQW QQQLNVMVKE EQEQDEKEAI RRLPAFANLQ
EALLENMIQN ILVEASRGEV VLTSRPRVIA LPPFCVPRSL TPDTLLPTQQ AEVLHPVVPL
PTDLP*
mutated AA sequence MFTLTGCRLV EKTQKVENPS VSFASSFPLI PLLLRGKSVQ KKQAESKSQI KLHTQSAPFG
LCPKDLMLTQ APSSVVRSRN SRNHTVNSGG SCLSASTVAI PAINDSSAAM SACSTISAQP
ASSMDTQMHS PKKQERVNKR VIWGIEVAEE LHWKGWELGK ETTRNLVLKN RSLKLQKMKY
RPPKTKFFFT VIPQPIFLSP GITLTLPIVF RPLEAKEYMD QLWFEKAEGM FCVGLRATLP
CHRLICRPPS LQLPMCAVGD TTEAFFCLDN VGDLPTFFTW EFSSPFQMLP ATGLLEPGQA
SQIKVTFQPL TAVIYEVQAT CWYGAGSRQR SSIQLQAVAK CAQLLVSIKH KCPEDQDAEG
FQKLLYFGSV AVGCTSERQI RLHNPSAVNA PFRIEISPDE LAEDQAFSCP TAHGIVLPGE
KKCVSVFFHP KTLDTRTVDY CSIMPSGCAS KTLLKVVGFC RGPAVSLQHY CVNFSWVNLG
ERSEQPLWIE NQSDCTAHFQ FAIDCLESVF TIRPAFGTLV GKARMTLHCA FQPTHPIICF
RRVACLIHHQ DPLFLDLMGT CHSDSTKPAI LKPQHLTWYR THLARGLTLY PPDILDAMLK
EKKLAQDQNG ALMIPIQDLE DMPAPQYPYI PPMTEFFFDG TSDITIFPPP ISVEPVEVDF
GACPGPEAPN PVPLCLMNHT KGKIMVVWTR RSDCPFWVTP ESCDVPPLKS MAMRLHFQPP
HPNCLYTVEL EAFAIYKVLQ SYSNIEEDCT MCPSWCLTVR ARGHSYFAGF EHHIPQYSLD
VPKLFPAVSS GEPTYRSLLL VNKDCKLLTF SLAPQRGSDV ILRPTSGLVA PGAHQIILIC
TYPEGSSWKQ HTFYLQCNAS PQYLKEVSMY SREEPLQLKL DTHKSLYFKP TWVGCSSTSP
FTFRNPSRLP LQFEWRVSEQ HRKLLAVQPS RGLIQPNERL TLTWTFSPLE ETKYLFQVGM
WVWEAGLSPN ANPAATTHYM LRLVGVGLTS SLSAKEKELA FGNVLVNSKQ SRFLVLLNDG
NCTLYYRLYL EQGSPEAVDN HPLALQLDRT EGSMPPRSQD TICLTACPKQ RSQYSWTITY
SLLSHRDNKA GEKQELCCVS LVAVYPLLSI LDVSSMGSAE GITRKHLWRL FSLDLLNSYL
ERDPTPCELT YKVPTRHSMS QIPPVLTPLR LDFNFGAAPF KAPPSVVFLA LKNSGVVSLD
WAFLLPSDQR IDVELWAEQA ELNSTELHQM RVQDNCLFSI SPKAGSLSPG QEQMVELKYS
HLFIGTDHLP VLFKVSHGRE ILLNFIGVTV KPEQKYVHFT STTHQFIPIP IGDTLPPRQI
YELYNGGSVP VTYEVQTDVL SQVQEKNFDH PIFCCLNPKG EIQPGSTARV LWIFSPIEAK
TYTVDVPIHI LGWNSALIHF QGVGYNPHMM GDTAPFHNIS SWDNSSIHSR LVVPGQNVFL
SQSHISLGNI PVQSKCSRLL FLNNISKNEE IAFSWQPSPL DFGEVSVSPM IGVVAPEETV
PFVVTLRASV HASFYSADLV CKLYSQQLMR QYHKELQEWK DEKVRQEVEF TITDMKVKKR
TCCTACEPAR KYKTLPPIKN QQSVSRPASW KLQTPKEEVS WPCPQPPSPG MLCLGLTARA
HATDYFLANF FSEFPCHFLH RELPKRKAPR EESETSEEKS PNKWGPVSKQ KKQLLVDILT
TIIRGLLEDK NFHEAVDQSL VEQVPYFRQF WNEQSTKFMD QKNSLYLMPI LPVPSSSWED
GKGKQPKEDR PEHYPGLGKK EEGEEEKGEE EEEELEEEEE EEEETEEEEL GKEEIEEKEE
ERDEKEEKVS WAGIGPTPQP ESQESMQWQW QQQLNVMVKE EQEQDEKEAI RRLPAFANLQ
EALLENMIQN ILVEASRGEV VLTSRPRVIA LPPFCVPRSL TPDTLLPTQQ AEVLHPVVPL
PTDLP*
speed 0.15 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: 0.999999999999983 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • Kozak consensus sequence changed
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
  • start ATG shifted
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:219903258T>GN/A show variant in all transcripts   IGV
HGNC symbol CFAP65
Ensembl transcript ID ENST00000295729
Genbank transcript ID NM_152389
UniProt peptide Q6ZU64
alteration type single base exchange
alteration region CDS
alteration spans start ATG, i.e. might be located in 5'UTR and CDS
DNA changes c.1A>C
cDNA.125A>C
g.2992A>C
AA changes M1? initiating Methionine lost
possible effect: activation of potential downstream translation initiation site with same reading frame resulting in shortened AA sequence, 1 AA at beginning of AA sequence are missing
M1- Score: - explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1-1
frameshift no
known variant Reference ID: rs6736922
databasehomozygous (G/G)heterozygousallele carriers
1000G92111102031
ExAC30220-276732547
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.590
-0.7660
(flanking)-0.1020
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased2987wt: 0.60 / mu: 0.67wt: TCCCTTTGGACTGTGTCCCAAGGACATGATGCTCACCCAGG
mu: TCCCTTTGGACTGTGTCCCAAGGACCTGATGCTCACCCAGG		 ccaa|GGAC
Donor increased2991wt: 0.24 / mu: 0.48wt: AAGGACATGATGCTC
mu: AAGGACCTGATGCTC		 GGAC|atga
distance from splice site 43
Kozak consensus sequence altered? yes
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1 MMLTQAPSSVVRS
mutated  not conserved    0 MLTQAPSSVVRSRNSRNHTVN
Ptroglodytes  all conserved  ENSPTRG00000012937  66 LMLTQAPSSIVRSRNSRNHTMN
Mmulatta  all conserved  ENSMMUG00000000783  66 LMLTQAPSSIMRSRNSRDHTVN
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000047021  1 MLIQKNQCHITRTRENCDCTMN
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000006863  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000013869  n/a
protein features
start (aa)end (aa)featuredetails 
129129CONFLICTH -> R (in Ref. 1; BAC86878).might get lost (downstream of altered splice site)
188208TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
320320CONFLICTT -> A (in Ref. 1; BAC86878).might get lost (downstream of altered splice site)
665665CONFLICTG -> W (in Ref. 1; BAC86878).might get lost (downstream of altered splice site)
877986DOMAINMSP.might get lost (downstream of altered splice site)
15251550COILEDPotential.might get lost (downstream of altered splice site)
15741574MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
17611848COMPBIASGlu-rich.might get lost (downstream of altered splice site)
length of protein delayed start of translation
AA sequence altered yes
position of stopcodon in wt / mu CDS 495 / 492
position (AA) of stopcodon in wt / mu AA sequence 165 / 164
position of stopcodon in wt / mu cDNA 619 / 616
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 125 / 128
chromosome 2
strand -1
last intron/exon boundary 287
theoretical NMD boundary in CDS 112
length of CDS 495
coding sequence (CDS) position 1
cDNA position
(for ins/del: last normal base / first normal base)		 125
gDNA position
(for ins/del: last normal base / first normal base)		 2992
chromosomal position
(for ins/del: last normal base / first normal base)		 219903258
original gDNA sequence snippet TTGGACTGTGTCCCAAGGACATGATGCTCACCCAGGCTCCA
altered gDNA sequence snippet TTGGACTGTGTCCCAAGGACCTGATGCTCACCCAGGCTCCA
original cDNA sequence snippet TTGGACTGTGTCCCAAGGACATGATGCTCACCCAGGCTCCA
altered cDNA sequence snippet TTGGACTGTGTCCCAAGGACCTGATGCTCACCCAGGCTCCA
wildtype AA sequence MMLTQAPSSV VRSRNSRNHT VNSGGSCLSA STVAIPAIND SSAAMSACST ISAQPASSMD
TQMHSPKKQE RVNKRVIWGI EVAEELHWKG WELGKETTRN LVLKNRSLKL QKMKYRYQYK
GSRTQCHSLE PRKQALFKTK QNKQKKPLTC HIKASECLKY VQYE*
mutated AA sequence MLTQAPSSVV RSRNSRNHTV NSGGSCLSAS TVAIPAINDS SAAMSACSTI SAQPASSMDT
QMHSPKKQER VNKRVIWGIE VAEELHWKGW ELGKETTRNL VLKNRSLKLQ KMKYRYQYKG
SRTQCHSLEP RKQALFKTKQ NKQKKPLTCH IKASECLKYV QYE*
speed 1.19 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999983 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • Kozak consensus sequence changed
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
  • start ATG shifted
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:219903258T>GN/A show variant in all transcripts   IGV
HGNC symbol CFAP65
Ensembl transcript ID ENST00000410037
Genbank transcript ID N/A
UniProt peptide Q6ZU64
alteration type single base exchange
alteration region CDS
alteration spans start ATG, i.e. might be located in 5'UTR and CDS
DNA changes c.1A>C
cDNA.118A>C
g.2992A>C
AA changes M1? initiating Methionine lost
possible effect: activation of potential downstream translation initiation site with same reading frame resulting in shortened AA sequence, 1 AA at beginning of AA sequence are missing
M1- Score: - explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1-1
frameshift no
known variant Reference ID: rs6736922
databasehomozygous (G/G)heterozygousallele carriers
1000G92111102031
ExAC30220-276732547
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.590
-0.7660
(flanking)-0.1020
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased2987wt: 0.60 / mu: 0.67wt: TCCCTTTGGACTGTGTCCCAAGGACATGATGCTCACCCAGG
mu: TCCCTTTGGACTGTGTCCCAAGGACCTGATGCTCACCCAGG		 ccaa|GGAC
Donor increased2991wt: 0.24 / mu: 0.48wt: AAGGACATGATGCTC
mu: AAGGACCTGATGCTC		 GGAC|atga
distance from splice site 43
Kozak consensus sequence altered? yes
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1 MMLTQAPSSVVRS
mutated  not conserved    0 MLTQAPSSVVRSRNSRNHTVN
Ptroglodytes  all conserved  ENSPTRG00000012937  66 LMLTQAPSSIVRSRNSRNHTMN
Mmulatta  all conserved  ENSMMUG00000000783  66 LMLTQAPSSIMRSRNSRDHTVN
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000047021  1 MLIQKNQCHITRTRENCDCTMN
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000006863  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000013869  n/a
protein features
start (aa)end (aa)featuredetails 
129129CONFLICTH -> R (in Ref. 1; BAC86878).might get lost (downstream of altered splice site)
188208TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
320320CONFLICTT -> A (in Ref. 1; BAC86878).might get lost (downstream of altered splice site)
665665CONFLICTG -> W (in Ref. 1; BAC86878).might get lost (downstream of altered splice site)
877986DOMAINMSP.might get lost (downstream of altered splice site)
15251550COILEDPotential.might get lost (downstream of altered splice site)
15741574MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
17611848COMPBIASGlu-rich.might get lost (downstream of altered splice site)
length of protein delayed start of translation
AA sequence altered yes
position of stopcodon in wt / mu CDS 2193 / 2190
position (AA) of stopcodon in wt / mu AA sequence 731 / 730
position of stopcodon in wt / mu cDNA 2310 / 2307
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 118 / 121
chromosome 2
strand -1
last intron/exon boundary 1774
theoretical NMD boundary in CDS 1606
length of CDS 2193
coding sequence (CDS) position 1
cDNA position
(for ins/del: last normal base / first normal base)		 118
gDNA position
(for ins/del: last normal base / first normal base)		 2992
chromosomal position
(for ins/del: last normal base / first normal base)		 219903258
original gDNA sequence snippet TTGGACTGTGTCCCAAGGACATGATGCTCACCCAGGCTCCA
altered gDNA sequence snippet TTGGACTGTGTCCCAAGGACCTGATGCTCACCCAGGCTCCA
original cDNA sequence snippet TTGGACTGTGTCCCAAGGACATGATGCTCACCCAGGCTCCA
altered cDNA sequence snippet TTGGACTGTGTCCCAAGGACCTGATGCTCACCCAGGCTCCA
wildtype AA sequence MMLTQAPSSV VRSRNSRNHT VNSGGSCLSA STVAIPAIND SSAAMSACST ISAQPASSMD
TQMHSPKKQE RVNKRVIWGI EVAEELHWKG WELGKETTRN LVLKNRSLKL QKMKYRPPKT
KFFFTVIPQP IFLSPGITLT LPIVFRPLEA KEYMDQLWFE KAEGMFCVGL RATLPCHRLI
CRPPSLQLPM CAVGDTTEAF FCLDNVGDLP TFFTWEFSSP FQMLPATGLL EPGQASQIKV
TFQPLTAVIY EVQATCWYGA GSRQRSSIQL QAVAKCAQLL VSIKHKCPED QDAEGFQKLL
YFGSVAVGCT SERQIRLHNP SAVNAPFRIE ISPDELAEDQ AFSCPTAHGI VLPGEKKCVS
VFFHPKTLDT RTVDYCSIMP SGCASKTLLK VVGFCRGPAV SLQHYCVNFS WVNLGERSEQ
PLWIENQSDC TAHFQFAIDC LESVFTIRPA FGTLVGKARM TLHCAFQPTH PIICFRRVAC
LIHHQDPLFL DLMGTCHSDS TKPAILKPQH LTWYRTHLAR GLTLYPPDIL DAMLKEKKLA
QDQNGALMIP IQDLEDMPAP QYPYIPPMTE FFFDGTSDIT IFPPPISVEP VEVDFGACPG
PEAPNPVPLC LMNHTKGKIM VVWTRRSDCP FWVTPESCDV PPLKSMAMRL HFQPPHPNCL
YTVELEAFAI YKVCARNERE ECGVSARSLS GLVGWQEVTE GSFRLHPLRA RLSLGWTVTP
MSLSPPKLLA *
mutated AA sequence MLTQAPSSVV RSRNSRNHTV NSGGSCLSAS TVAIPAINDS SAAMSACSTI SAQPASSMDT
QMHSPKKQER VNKRVIWGIE VAEELHWKGW ELGKETTRNL VLKNRSLKLQ KMKYRPPKTK
FFFTVIPQPI FLSPGITLTL PIVFRPLEAK EYMDQLWFEK AEGMFCVGLR ATLPCHRLIC
RPPSLQLPMC AVGDTTEAFF CLDNVGDLPT FFTWEFSSPF QMLPATGLLE PGQASQIKVT
FQPLTAVIYE VQATCWYGAG SRQRSSIQLQ AVAKCAQLLV SIKHKCPEDQ DAEGFQKLLY
FGSVAVGCTS ERQIRLHNPS AVNAPFRIEI SPDELAEDQA FSCPTAHGIV LPGEKKCVSV
FFHPKTLDTR TVDYCSIMPS GCASKTLLKV VGFCRGPAVS LQHYCVNFSW VNLGERSEQP
LWIENQSDCT AHFQFAIDCL ESVFTIRPAF GTLVGKARMT LHCAFQPTHP IICFRRVACL
IHHQDPLFLD LMGTCHSDST KPAILKPQHL TWYRTHLARG LTLYPPDILD AMLKEKKLAQ
DQNGALMIPI QDLEDMPAPQ YPYIPPMTEF FFDGTSDITI FPPPISVEPV EVDFGACPGP
EAPNPVPLCL MNHTKGKIMV VWTRRSDCPF WVTPESCDVP PLKSMAMRLH FQPPHPNCLY
TVELEAFAIY KVCARNEREE CGVSARSLSG LVGWQEVTEG SFRLHPLRAR LSLGWTVTPM
SLSPPKLLA*
speed 0.17 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: 0.999999999999983 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • Kozak consensus sequence changed
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
  • start ATG shifted
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:219903258T>GN/A show variant in all transcripts   IGV
HGNC symbol CFAP65
Ensembl transcript ID ENST00000324264
Genbank transcript ID N/A
UniProt peptide Q6ZU64
alteration type single base exchange
alteration region CDS
alteration spans start ATG, i.e. might be located in 5'UTR and CDS
DNA changes c.1A>C
cDNA.680A>C
g.2992A>C
AA changes M1? initiating Methionine lost
possible effect: activation of potential downstream translation initiation site with same reading frame resulting in shortened AA sequence, 1 AA at beginning of AA sequence are missing
M1- Score: - explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1-1
frameshift no
known variant Reference ID: rs6736922
databasehomozygous (G/G)heterozygousallele carriers
1000G92111102031
ExAC30220-276732547
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.590
-0.7660
(flanking)-0.1020
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased2987wt: 0.60 / mu: 0.67wt: TCCCTTTGGACTGTGTCCCAAGGACATGATGCTCACCCAGG
mu: TCCCTTTGGACTGTGTCCCAAGGACCTGATGCTCACCCAGG		 ccaa|GGAC
Donor increased2991wt: 0.24 / mu: 0.48wt: AAGGACATGATGCTC
mu: AAGGACCTGATGCTC		 GGAC|atga
distance from splice site 162
Kozak consensus sequence altered? yes
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1 MMLTQAPSSVVRS
mutated  not conserved    0 MLTQAPSSVVRSRNSRNHTVN
Ptroglodytes  all conserved  ENSPTRG00000012937  66 LMLTQAPSSIVRSRNSRNHTMN
Mmulatta  all conserved  ENSMMUG00000000783  66 LMLTQAPSSIMRSRNSRDHTVN
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000047021  1 MLIQKNQCHITRTRENCDCTMN
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000006863  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000013869  n/a
protein features
start (aa)end (aa)featuredetails 
129129CONFLICTH -> R (in Ref. 1; BAC86878).might get lost (downstream of altered splice site)
188208TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
320320CONFLICTT -> A (in Ref. 1; BAC86878).might get lost (downstream of altered splice site)
665665CONFLICTG -> W (in Ref. 1; BAC86878).might get lost (downstream of altered splice site)
877986DOMAINMSP.might get lost (downstream of altered splice site)
15251550COILEDPotential.might get lost (downstream of altered splice site)
15741574MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
17611848COMPBIASGlu-rich.might get lost (downstream of altered splice site)
length of protein delayed start of translation
AA sequence altered yes
position of stopcodon in wt / mu CDS 495 / 492
position (AA) of stopcodon in wt / mu AA sequence 165 / 164
position of stopcodon in wt / mu cDNA 1174 / 1171
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 680 / 683
chromosome 2
strand -1
last intron/exon boundary 842
theoretical NMD boundary in CDS 112
length of CDS 495
coding sequence (CDS) position 1
cDNA position
(for ins/del: last normal base / first normal base)		 680
gDNA position
(for ins/del: last normal base / first normal base)		 2992
chromosomal position
(for ins/del: last normal base / first normal base)		 219903258
original gDNA sequence snippet TTGGACTGTGTCCCAAGGACATGATGCTCACCCAGGCTCCA
altered gDNA sequence snippet TTGGACTGTGTCCCAAGGACCTGATGCTCACCCAGGCTCCA
original cDNA sequence snippet TTGGACTGTGTCCCAAGGACATGATGCTCACCCAGGCTCCA
altered cDNA sequence snippet TTGGACTGTGTCCCAAGGACCTGATGCTCACCCAGGCTCCA
wildtype AA sequence MMLTQAPSSV VRSRNSRNHT VNSGGSCLSA STVAIPAIND SSAAMSACST ISAQPASSMD
TQMHSPKKQE RVNKRVIWGI EVAEELHWKG WELGKETTRN LVLKNRSLKL QKMKYRYQYK
GSRTQCHSLE PRKQALFKTK QNKQKKPLTC HIKASECLKY VQYE*
mutated AA sequence MLTQAPSSVV RSRNSRNHTV NSGGSCLSAS TVAIPAINDS SAAMSACSTI SAQPASSMDT
QMHSPKKQER VNKRVIWGIE VAEELHWKGW ELGKETTRNL VLKNRSLKLQ KMKYRYQYKG
SRTQCHSLEP RKQALFKTKQ NKQKKPLTCH IKASECLKYV QYE*
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
back to results table

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