Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 5.09555305895112e-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
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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 0.46 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project