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 3 transcript(s)...
Querying Taster for transcript #1: ENST00000389297
Querying Taster for transcript #2: ENST00000497910
Querying Taster for transcript #3: ENST00000316089
MT speed 0 s - this script 3.10974 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
CFAP69polymorphism_automatic0.99994904446941simple_aaeaffectedT885Msingle base exchangers1134956show file
CFAP69polymorphism_automatic0.99994904446941simple_aaeaffectedT867Msingle base exchangers1134956show file
CFAP69polymorphism_automatic0.99994904446941simple_aaeaffectedT839Msingle base exchangers1134956show file

Taster files

Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 5.09555305895111e-05 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:89938680C>TN/A show variant in all transcripts   IGV
HGNC symbol CFAP69
Ensembl transcript ID ENST00000389297
Genbank transcript ID NM_001039706
UniProt peptide A5D8W1
alteration type single base exchange
alteration region CDS
DNA changes c.2654C>T
cDNA.2905C>T
g.64193C>T
AA changes T885M Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS
885
frameshift no
known variant Reference ID: rs1134956
databasehomozygous (T/T)heterozygousallele carriers
1000G40111041505
ExAC1627222316495
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)3.5531
4.2561
(flanking)0.5461
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
Donor lost64193sequence motif lost- wt: AACG|gtaa
 mu: AATG.gtaa
Donor marginally decreased64193wt: 0.9932 / mu: 0.9801 (marginal change - not scored)wt: CACAACGGTAAGATT
mu: CACAATGGTAAGATT
 CAAC|ggta
distance from splice site 2
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      885FHQTHIKGLNTTVPSGGVVTVEST
mutated  not conserved    885FHQTHIKGLNTMVPSGGVVTVES
Ptroglodytes  all identical  ENSPTRG00000019383  839FHQTDIKGLNTTVPSGGVVTVES
Mmulatta  all identical  ENSMMUG00000023654  557FHGTDIKGLNTTVPSGGVVTVES
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000040473  886FHQTVIKGLNTTVPSGRVVTVQS
Ggallus  all identical  ENSGALG00000009026  844GLGTTVGSGRLVTVES
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000007441  844LNTTVPCGQLVAVES
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2826 / 2826
position (AA) of stopcodon in wt / mu AA sequence 942 / 942
position of stopcodon in wt / mu cDNA 3077 / 3077
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 252 / 252
chromosome 7
strand 1
last intron/exon boundary 2907
theoretical NMD boundary in CDS 2605
length of CDS 2826
coding sequence (CDS) position 2654
cDNA position
(for ins/del: last normal base / first normal base)
2905
gDNA position
(for ins/del: last normal base / first normal base)
64193
chromosomal position
(for ins/del: last normal base / first normal base)
89938680
original gDNA sequence snippet TATTAAAGGCCTTAACACAACGGTAAGATTCTTTCTCCATA
altered gDNA sequence snippet TATTAAAGGCCTTAACACAATGGTAAGATTCTTTCTCCATA
original cDNA sequence snippet TATTAAAGGCCTTAACACAACGGTGCCCTCTGGTGGAGTAG
altered cDNA sequence snippet TATTAAAGGCCTTAACACAATGGTGCCCTCTGGTGGAGTAG
wildtype AA sequence MWTEEAGATA EAQESGIRNK SSSSSQIPVV GVVTEDDEAQ DVFKPMDLNR VIKLLEETDK
DGLEEKQLKF VKKLVQCYQN GLPLRDLAQI FKILNLCSGK IKNQPRFIES AYDIIKLCGL
PFLKKKVSDE ITYAEDTANS IALLGDLMKI PSSELRIQIC KCIVDFYHAE PPKKHIPGYQ
QASSSYKIQM AEVGGLAKTM VQSMTLLENQ LVEKLWVLKV LQHLSTSEVN CTIMMKAQAA
SGICTHLNDP DPSGQLLFRS SEILWNLLEK SSKEEVIQQL SNLECLLALK EVFKNLFMRG
FSHYDRQLRN DILVITTIIA QNPEAPMIEC GFTKDLILFA TFNEVKSQNL LVKGLKLSNS
YEDFELKKLL FNVIVILCKD LPTVQLLIDG KVILALFTYV KKPEKQKIID WSAAQHEELQ
LHAIATLSSV APLLIEEYMS CQGNARVLAF LEWCESEDPF FSHGNSFHGT GGRGNKFAQM
RYSLRLLRAV VYLEDETVNK DLCEKGTIQQ MIGIFKNIIS KPNEKEEAIV LEIQSDILLI
LSGLCENHIQ RKEIFGTEGV DIVLHVMKTD PRKLQSGLGY NVLLFSTLDS IWCCILGCYP
SEDYFLEKEG IFLLLDLLAL NQKKFCNLIL GIMVEFCDNP KTAAHVNAWQ GKKDQTAASL
LIKLWRKEEK ELGVKRDKNG KIIDTKKPLF TSFQEEQKII PLPANCPSIA VMDVSENIRA
KIYAILGKLD FENLPGLSAE DFVTLCIIHR YLDFKIGEIW NEIYEEIKLE KLRPVTTDKK
ALEAITTASE NIGKMVASLQ SDIIESQACQ DMQNEQKVYA KIQATHKQRE LANKSWEDFL
ARTSNAKTLK KAKSLQEKAI EASRYHKRPQ NAIFHQTHIK GLNTTVPSGG VVTVESTPAR
LVGGPLVDTD IALKKLPIRG GALQRVKAVK IVDAPKKSIP T*
mutated AA sequence MWTEEAGATA EAQESGIRNK SSSSSQIPVV GVVTEDDEAQ DVFKPMDLNR VIKLLEETDK
DGLEEKQLKF VKKLVQCYQN GLPLRDLAQI FKILNLCSGK IKNQPRFIES AYDIIKLCGL
PFLKKKVSDE ITYAEDTANS IALLGDLMKI PSSELRIQIC KCIVDFYHAE PPKKHIPGYQ
QASSSYKIQM AEVGGLAKTM VQSMTLLENQ LVEKLWVLKV LQHLSTSEVN CTIMMKAQAA
SGICTHLNDP DPSGQLLFRS SEILWNLLEK SSKEEVIQQL SNLECLLALK EVFKNLFMRG
FSHYDRQLRN DILVITTIIA QNPEAPMIEC GFTKDLILFA TFNEVKSQNL LVKGLKLSNS
YEDFELKKLL FNVIVILCKD LPTVQLLIDG KVILALFTYV KKPEKQKIID WSAAQHEELQ
LHAIATLSSV APLLIEEYMS CQGNARVLAF LEWCESEDPF FSHGNSFHGT GGRGNKFAQM
RYSLRLLRAV VYLEDETVNK DLCEKGTIQQ MIGIFKNIIS KPNEKEEAIV LEIQSDILLI
LSGLCENHIQ RKEIFGTEGV DIVLHVMKTD PRKLQSGLGY NVLLFSTLDS IWCCILGCYP
SEDYFLEKEG IFLLLDLLAL NQKKFCNLIL GIMVEFCDNP KTAAHVNAWQ GKKDQTAASL
LIKLWRKEEK ELGVKRDKNG KIIDTKKPLF TSFQEEQKII PLPANCPSIA VMDVSENIRA
KIYAILGKLD FENLPGLSAE DFVTLCIIHR YLDFKIGEIW NEIYEEIKLE KLRPVTTDKK
ALEAITTASE NIGKMVASLQ SDIIESQACQ DMQNEQKVYA KIQATHKQRE LANKSWEDFL
ARTSNAKTLK KAKSLQEKAI EASRYHKRPQ NAIFHQTHIK GLNTMVPSGG VVTVESTPAR
LVGGPLVDTD IALKKLPIRG GALQRVKAVK IVDAPKKSIP T*
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

polymorphism

Model: simple_aae, prob: 5.09555305895111e-05 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:89938680C>TN/A show variant in all transcripts   IGV
HGNC symbol CFAP69
Ensembl transcript ID ENST00000497910
Genbank transcript ID NM_001160138
UniProt peptide A5D8W1
alteration type single base exchange
alteration region CDS
DNA changes c.2600C>T
cDNA.2810C>T
g.64193C>T
AA changes T867M Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS
867
frameshift no
known variant Reference ID: rs1134956
databasehomozygous (T/T)heterozygousallele carriers
1000G40111041505
ExAC1627222316495
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)3.5531
4.2561
(flanking)0.5461
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
Donor lost64193sequence motif lost- wt: AACG|gtaa
 mu: AATG.gtaa
Donor marginally decreased64193wt: 0.9932 / mu: 0.9801 (marginal change - not scored)wt: CACAACGGTAAGATT
mu: CACAATGGTAAGATT
 CAAC|ggta
distance from splice site 2
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      867FHQTHIKGLNTTVPSGGVVTVEST
mutated  not conserved    867FHQTHIKGLNTMVPSGGVVTVES
Ptroglodytes  all identical  ENSPTRG00000019383  839FHQTDIKGLNTTVPSGGVVTVES
Mmulatta  all identical  ENSMMUG00000023654  557FHGTDIKGLNTTVPSGGVVTVES
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000040473  886FHQTVIKGLNTTVPSGRVVTVQS
Ggallus  all identical  ENSGALG00000009026  844GLGTTVGSGRLVTVES
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000007441  844LNTTVPCGQLVAVES
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2772 / 2772
position (AA) of stopcodon in wt / mu AA sequence 924 / 924
position of stopcodon in wt / mu cDNA 2982 / 2982
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 211 / 211
chromosome 7
strand 1
last intron/exon boundary 2812
theoretical NMD boundary in CDS 2551
length of CDS 2772
coding sequence (CDS) position 2600
cDNA position
(for ins/del: last normal base / first normal base)
2810
gDNA position
(for ins/del: last normal base / first normal base)
64193
chromosomal position
(for ins/del: last normal base / first normal base)
89938680
original gDNA sequence snippet TATTAAAGGCCTTAACACAACGGTAAGATTCTTTCTCCATA
altered gDNA sequence snippet TATTAAAGGCCTTAACACAATGGTAAGATTCTTTCTCCATA
original cDNA sequence snippet TATTAAAGGCCTTAACACAACGGTGCCCTCTGGTGGAGTAG
altered cDNA sequence snippet TATTAAAGGCCTTAACACAATGGTGCCCTCTGGTGGAGTAG
wildtype AA sequence MWTEEAGATA EAQESGIRNK SSSSSQIPVV GVVTEDDEAQ DVFKPMDLNR VIKLLEETDK
DGLEEKQLKF VKKLVQCYQN GLPLRDLAQI FKILNLCSGK IKNQPRFIES AYDIIKLCGL
PFLKKKVSDE ITYAEDTANS IALLGDLMKI PSSELRIQIC YQQASSSYKI QMAEVGGLAK
TMVQSMTLLE NQLVEKLWVL KVLQHLSTSE VNCTIMMKAQ AASGICTHLN DPDPSGQLLF
RSSEILWNLL EKSSKEEVIQ QLSNLECLLA LKEVFKNLFM RGFSHYDRQL RNDILVITTI
IAQNPEAPMI ECGFTKDLIL FATFNEVKSQ NLLVKGLKLS NSYEDFELKK LLFNVIVILC
KDLPTVQLLI DGKVILALFT YVKKPEKQKI IDWSAAQHEE LQLHAIATLS SVAPLLIEEY
MSCQGNARVL AFLEWCESED PFFSHGNSFH GTGGRGNKFA QMRYSLRLLR AVVYLEDETV
NKDLCEKGTI QQMIGIFKNI ISKPNEKEEA IVLEIQSDIL LILSGLCENH IQRKEIFGTE
GVDIVLHVMK TDPRKLQSGL GYNVLLFSTL DSIWCCILGC YPSEDYFLEK EGIFLLLDLL
ALNQKKFCNL ILGIMVEFCD NPKTAAHVNA WQGKKDQTAA SLLIKLWRKE EKELGVKRDK
NGKIIDTKKP LFTSFQEEQK IIPLPANCPS IAVMDVSENI RAKIYAILGK LDFENLPGLS
AEDFVTLCII HRYLDFKIGE IWNEIYEEIK LEKLRPVTTD KKALEAITTA SENIGKMVAS
LQSDIIESQA CQDMQNEQKV YAKIQATHKQ RELANKSWED FLARTSNAKT LKKAKSLQEK
AIEASRYHKR PQNAIFHQTH IKGLNTTVPS GGVVTVESTP ARLVGGPLVD TDIALKKLPI
RGGALQRVKA VKIVDAPKKS IPT*
mutated AA sequence MWTEEAGATA EAQESGIRNK SSSSSQIPVV GVVTEDDEAQ DVFKPMDLNR VIKLLEETDK
DGLEEKQLKF VKKLVQCYQN GLPLRDLAQI FKILNLCSGK IKNQPRFIES AYDIIKLCGL
PFLKKKVSDE ITYAEDTANS IALLGDLMKI PSSELRIQIC YQQASSSYKI QMAEVGGLAK
TMVQSMTLLE NQLVEKLWVL KVLQHLSTSE VNCTIMMKAQ AASGICTHLN DPDPSGQLLF
RSSEILWNLL EKSSKEEVIQ QLSNLECLLA LKEVFKNLFM RGFSHYDRQL RNDILVITTI
IAQNPEAPMI ECGFTKDLIL FATFNEVKSQ NLLVKGLKLS NSYEDFELKK LLFNVIVILC
KDLPTVQLLI DGKVILALFT YVKKPEKQKI IDWSAAQHEE LQLHAIATLS SVAPLLIEEY
MSCQGNARVL AFLEWCESED PFFSHGNSFH GTGGRGNKFA QMRYSLRLLR AVVYLEDETV
NKDLCEKGTI QQMIGIFKNI ISKPNEKEEA IVLEIQSDIL LILSGLCENH IQRKEIFGTE
GVDIVLHVMK TDPRKLQSGL GYNVLLFSTL DSIWCCILGC YPSEDYFLEK EGIFLLLDLL
ALNQKKFCNL ILGIMVEFCD NPKTAAHVNA WQGKKDQTAA SLLIKLWRKE EKELGVKRDK
NGKIIDTKKP LFTSFQEEQK IIPLPANCPS IAVMDVSENI RAKIYAILGK LDFENLPGLS
AEDFVTLCII HRYLDFKIGE IWNEIYEEIK LEKLRPVTTD KKALEAITTA SENIGKMVAS
LQSDIIESQA CQDMQNEQKV YAKIQATHKQ RELANKSWED FLARTSNAKT LKKAKSLQEK
AIEASRYHKR PQNAIFHQTH IKGLNTMVPS GGVVTVESTP ARLVGGPLVD TDIALKKLPI
RGGALQRVKA VKIVDAPKKS IPT*
speed 0.61 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: 5.09555305895111e-05 (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) chr7:89938680C>TN/A show variant in all transcripts   IGV
HGNC symbol CFAP69
Ensembl transcript ID ENST00000316089
Genbank transcript ID N/A
UniProt peptide A5D8W1
alteration type single base exchange
alteration region CDS
DNA changes c.2516C>T
cDNA.2767C>T
g.64193C>T
AA changes T839M Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS
839
frameshift no
known variant Reference ID: rs1134956
databasehomozygous (T/T)heterozygousallele carriers
1000G40111041505
ExAC1627222316495
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)3.5531
4.2561
(flanking)0.5461
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
Donor lost64193sequence motif lost- wt: AACG|gtaa
 mu: AATG.gtaa
Donor marginally decreased64193wt: 0.9932 / mu: 0.9801 (marginal change - not scored)wt: CACAACGGTAAGATT
mu: CACAATGGTAAGATT
 CAAC|ggta
distance from splice site 2
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      839FHQTHIKGLNTTVPSGGVVTVEST
mutated  not conserved    839FHQTHIKGLNTMVPSGGVVTVES
Ptroglodytes  all identical  ENSPTRG00000019383  839FHQTDIKGLNTTVPSGGVVTVES
Mmulatta  all identical  ENSMMUG00000023654  557FHGTDIKGLNTTVPSGGVVTVES
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000040473  886FHQTVIKGLNTTVPSGRVVTVQS
Ggallus  all identical  ENSGALG00000009026  844GLGTTVGSGRLVTVES
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000007441  844LNTTVPCGQLVAVES
protein features
start (aa)end (aa)featuredetails 
854854CONFLICTS -> R (in Ref. 2; BAB14972/BAG63878/ BAG64159 and 4; AAI32772/AAI41835/ AAI42656).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2688 / 2688
position (AA) of stopcodon in wt / mu AA sequence 896 / 896
position of stopcodon in wt / mu cDNA 2939 / 2939
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 252 / 252
chromosome 7
strand 1
last intron/exon boundary 2769
theoretical NMD boundary in CDS 2467
length of CDS 2688
coding sequence (CDS) position 2516
cDNA position
(for ins/del: last normal base / first normal base)
2767
gDNA position
(for ins/del: last normal base / first normal base)
64193
chromosomal position
(for ins/del: last normal base / first normal base)
89938680
original gDNA sequence snippet TATTAAAGGCCTTAACACAACGGTAAGATTCTTTCTCCATA
altered gDNA sequence snippet TATTAAAGGCCTTAACACAATGGTAAGATTCTTTCTCCATA
original cDNA sequence snippet TATTAAAGGCCTTAACACAACGGTGCCCTCTGGTGGAGTAG
altered cDNA sequence snippet TATTAAAGGCCTTAACACAATGGTGCCCTCTGGTGGAGTAG
wildtype AA sequence MWTEEAGATA EAQESGIRNK SSSSSQIPVV GVVTEDDEAQ DVFKPMDLNR VIKLLEETDK
DGLEEKQLKF VKKLVQCYQN GLPLRDLAQI FKILNLCSGK IKNQPRFIES AYDIIKLCGL
PFLKKKVSDE ITYAEDTANS IALLGDLMKI PSSELRIQIC KCIVDFYHAE PPKKHIPGYQ
QASSSYKIQM AEVGGLAKTM VQSMTLLENQ LVEKLWVLKV LQHLSTSEVN CTIMMKAQAA
SGICTHLNDP DPSGQLLFRS SEILWNLLEK SSKEEVIQQL SNLECLLALK EVFKNLFMRG
FSHYDRQLRN DILVITTIIA QNPEAPMIEC GFTKDLILFA TFNEVKSQNL LVKGLKLSNS
YEDFELKKLL FNVIVILCKD LPTVQLLIDG KVILALFTYV KKPEKQKIID WSAAQHEELQ
LHAIATLSSV APLLIEEYMS CQGNARVLAF LEWCESEDPF FSHGNSFHGT GGRGNKFAQM
RYSLRLLRAV VYLEDETVNK DLCEKGTIQQ MIGIFKNIIS KPNEKEEAIV LEIQSDILLI
LSGLCENHIQ RKEIFGTEGV DIVLHVMKTD PRKLQSGLGY NVLLFSTLDS IWCCILGCYP
SEDYFLEKEG IFLLLDLLAL NQKKFCNLIL GIMVEFCDNP KTAAHVNAWQ GKKDQTAASL
LIKLWRKEEK ELGVKRDKNG KIIDFENLPG LSAEDFVTLC IIHRYLDFKI GEIWNEIYEE
IKLEKLRPVT TDKKALEAIT TASENIGKMV ASLQSDIIES QACQDMQNEQ KVYAKIQATH
KQRELANKSW EDFLARTSNA KTLKKAKSLQ EKAIEASRYH KRPQNAIFHQ THIKGLNTTV
PSGGVVTVES TPARLVGGPL VDTDIALKKL PIRGGALQRV KAVKIVDAPK KSIPT*
mutated AA sequence MWTEEAGATA EAQESGIRNK SSSSSQIPVV GVVTEDDEAQ DVFKPMDLNR VIKLLEETDK
DGLEEKQLKF VKKLVQCYQN GLPLRDLAQI FKILNLCSGK IKNQPRFIES AYDIIKLCGL
PFLKKKVSDE ITYAEDTANS IALLGDLMKI PSSELRIQIC KCIVDFYHAE PPKKHIPGYQ
QASSSYKIQM AEVGGLAKTM VQSMTLLENQ LVEKLWVLKV LQHLSTSEVN CTIMMKAQAA
SGICTHLNDP DPSGQLLFRS SEILWNLLEK SSKEEVIQQL SNLECLLALK EVFKNLFMRG
FSHYDRQLRN DILVITTIIA QNPEAPMIEC GFTKDLILFA TFNEVKSQNL LVKGLKLSNS
YEDFELKKLL FNVIVILCKD LPTVQLLIDG KVILALFTYV KKPEKQKIID WSAAQHEELQ
LHAIATLSSV APLLIEEYMS CQGNARVLAF LEWCESEDPF FSHGNSFHGT GGRGNKFAQM
RYSLRLLRAV VYLEDETVNK DLCEKGTIQQ MIGIFKNIIS KPNEKEEAIV LEIQSDILLI
LSGLCENHIQ RKEIFGTEGV DIVLHVMKTD PRKLQSGLGY NVLLFSTLDS IWCCILGCYP
SEDYFLEKEG IFLLLDLLAL NQKKFCNLIL GIMVEFCDNP KTAAHVNAWQ GKKDQTAASL
LIKLWRKEEK ELGVKRDKNG KIIDFENLPG LSAEDFVTLC IIHRYLDFKI GEIWNEIYEE
IKLEKLRPVT TDKKALEAIT TASENIGKMV ASLQSDIIES QACQDMQNEQ KVYAKIQATH
KQRELANKSW EDFLARTSNA KTLKKAKSLQ EKAIEASRYH KRPQNAIFHQ THIKGLNTMV
PSGGVVTVES TPARLVGGPL VDTDIALKKL PIRGGALQRV KAVKIVDAPK KSIPT*
speed 0.52 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

Problems