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
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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 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 0.97 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